#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
AADACL2	344752	genome.wustl.edu	37	3	151451827	151451827	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:151451827G>T	ENST00000356517.3	+	1	113	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	2						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGATATTATGGGGCTAAAAGC	0.383																																																	0													318.0	258.0	277.0					3																	151451827		692	1591	2283	SO:0001583	missense	0			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.4G>T	3.37:g.151451827G>T	ENSP00000348911:p.Gly2Trp		Q5HYJ4	Missense_Mutation	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase	p.G2W	ENST00000356517.3	37	c.4	CCDS3161.2	3	.	.	.	.	.	.	.	.	.	.	G	6.960	0.547086	0.13312	.	.	ENSG00000197953	ENST00000356517	T	0.06528	3.29	5.17	2.39	0.29439	.	.	.	.	.	T	0.15869	0.0382	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.72075	0.976	T	0.10200	-1.0640	9	0.54805	T	0.06	0.525	7.0797	0.25223	0.1618:0.0:0.6985:0.1397	.	2	Q6P093	ADCL2_HUMAN	W	2	ENSP00000348911:G2W	ENSP00000348911:G2W	G	+	1	0	AADACL2	152934517	0.894000	0.30519	0.027000	0.17364	0.000000	0.00434	1.012000	0.29924	0.082000	0.17018	-2.067000	0.00394	GGG	AADACL2	-	pirsf_Arylacetamide_deacetylase	ENSG00000197953		0.383	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL2	HGNC	protein_coding	OTTHUMT00000342288.3		0.00	110	0	G	NM_207365		151451827	+1			no_errors	ENST00000356517	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.045	T
ABCA6	23460	genome.wustl.edu	37	17	67125826	67125826	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:67125826T>C	ENST00000284425.2	-	7	1032	c.858A>G	c.(856-858)atA>atG	p.I286M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	286					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGGTGAATGTTATGATAATTG	0.294																																																	0													82.0	85.0	84.0					17																	67125826		2203	4299	6502	SO:0001583	missense	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.858A>G	17.37:g.67125826T>C	ENSP00000284425:p.Ile286Met		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I286M	ENST00000284425.2	37	c.858	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	10.94	1.491866	0.26774	.	.	ENSG00000154262	ENST00000284425	D	0.83914	-1.78	5.6	-2.69	0.06022	.	0.399214	0.21362	N	0.075790	D	0.85741	0.5767	M	0.80422	2.495	0.26320	N	0.977684	D	0.58970	0.984	D	0.66497	0.944	T	0.75442	-0.3316	10	0.51188	T	0.08	.	2.1557	0.03811	0.1323:0.1577:0.4087:0.3013	.	286	Q8N139	ABCA6_HUMAN	M	286	ENSP00000284425:I286M	ENSP00000284425:I286M	I	-	3	3	ABCA6	64637421	0.677000	0.27577	0.010000	0.14722	0.027000	0.11550	-0.006000	0.12833	-0.449000	0.07117	0.528000	0.53228	ATA	ABCA6	-	NULL	ENSG00000154262		0.294	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0.00	27	0	T	NM_080284		67125826	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.127	C
ABCA6	23460	genome.wustl.edu	37	17	67125826	67125826	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:67125826T>C	ENST00000284425.2	-	7	1032	c.858A>G	c.(856-858)atA>atG	p.I286M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	286					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGGTGAATGTTATGATAATTG	0.294																																																	0													82.0	85.0	84.0					17																	67125826		2203	4299	6502	SO:0001583	missense	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.858A>G	17.37:g.67125826T>C	ENSP00000284425:p.Ile286Met		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I286M	ENST00000284425.2	37	c.858	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	10.94	1.491866	0.26774	.	.	ENSG00000154262	ENST00000284425	D	0.83914	-1.78	5.6	-2.69	0.06022	.	0.399214	0.21362	N	0.075790	D	0.85741	0.5767	M	0.80422	2.495	0.26320	N	0.977684	D	0.58970	0.984	D	0.66497	0.944	T	0.75442	-0.3316	10	0.51188	T	0.08	.	2.1557	0.03811	0.1323:0.1577:0.4087:0.3013	.	286	Q8N139	ABCA6_HUMAN	M	286	ENSP00000284425:I286M	ENSP00000284425:I286M	I	-	3	3	ABCA6	64637421	0.677000	0.27577	0.010000	0.14722	0.027000	0.11550	-0.006000	0.12833	-0.449000	0.07117	0.528000	0.53228	ATA	ABCA6	-	NULL	ENSG00000154262		0.294	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0.00	85	0	T	NM_080284		67125826	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.127	C
ABCC1	4363	genome.wustl.edu	37	16	16103632	16103632	+	Splice_Site	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:16103632G>T	ENST00000399410.3	+	3	400		c.e3-1		ABCC1_ENST00000346370.5_Splice_Site|ABCC1_ENST00000345148.5_Splice_Site|ABCC1_ENST00000349029.5_Splice_Site|ABCC1_ENST00000351154.5_Splice_Site|ABCC1_ENST00000399408.2_Splice_Site	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1						arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TTCTCTTCCAGGCCTTGGGAT	0.562																																																	0													190.0	190.0	190.0					16																	16103632		1929	4123	6052	SO:0001630	splice_region_variant	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.226-1G>T	16.37:g.16103632G>T			A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Splice_Site	SNP	-	e3-1	ENST00000399410.3	37	c.226-1	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716137	0.68844	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6816	0.88245	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC1	16011133	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.399000	0.97285	2.424000	0.82194	0.643000	0.83706	.	ABCC1	-	-	ENSG00000103222		0.562	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	-	0.00	79	0	G	NM_004996	Intron	16103632	+1	tier1	-	no_errors	ENST00000399408	ensembl	human	known	74_37	splice_site	5.80	65	4	SNP	1.000	T
ABCC11	85320	genome.wustl.edu	37	16	48264412	48264412	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:48264412C>T	ENST00000394747.1	-	2	521	c.172G>A	c.(172-174)Gtc>Atc	p.V58I	ABCC11_ENST00000356608.2_Missense_Mutation_p.V58I|ABCC11_ENST00000394748.1_Missense_Mutation_p.V58I|ABCC11_ENST00000353782.5_Missense_Mutation_p.V58I|ABCC11_ENST00000537808.1_Missense_Mutation_p.V58I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	58					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CACGGTGGGACAGCTGCCCTC	0.532																																																	0													67.0	61.0	63.0					16																	48264412		2200	4300	6500	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.172G>A	16.37:g.48264412C>T	ENSP00000378230:p.Val58Ile		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V58I	ENST00000394747.1	37	c.172	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664035	0.29604	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92495	-2.86;-2.77;-2.77;-2.77;-3.05	4.48	-1.18	0.09617	.	2.578920	0.01107	N	0.005481	D	0.86472	0.5941	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.71935	-0.4442	10	0.29301	T	0.29	-1.441	7.5421	0.27744	0.0:0.493:0.0:0.507	.	58;58	Q96J66-2;Q96J66	.;ABCCB_HUMAN	I	58	ENSP00000311326:V58I;ENSP00000349017:V58I;ENSP00000378231:V58I;ENSP00000378230:V58I;ENSP00000438530:V58I	ENSP00000311326:V58I	V	-	1	0	ABCC11	46821913	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.331000	0.07914	-0.224000	0.09928	0.591000	0.81541	GTC	ABCC11	-	NULL	ENSG00000121270		0.532	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0.00	87	0	C	NM_032583		48264412	-1	tier1	-	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.000	T
ABCC11	85320	genome.wustl.edu	37	16	48264412	48264412	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:48264412C>T	ENST00000394747.1	-	2	521	c.172G>A	c.(172-174)Gtc>Atc	p.V58I	ABCC11_ENST00000356608.2_Missense_Mutation_p.V58I|ABCC11_ENST00000394748.1_Missense_Mutation_p.V58I|ABCC11_ENST00000353782.5_Missense_Mutation_p.V58I|ABCC11_ENST00000537808.1_Missense_Mutation_p.V58I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	58					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CACGGTGGGACAGCTGCCCTC	0.532																																																	0													67.0	61.0	63.0					16																	48264412		2200	4300	6500	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.172G>A	16.37:g.48264412C>T	ENSP00000378230:p.Val58Ile		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V58I	ENST00000394747.1	37	c.172	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664035	0.29604	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92495	-2.86;-2.77;-2.77;-2.77;-3.05	4.48	-1.18	0.09617	.	2.578920	0.01107	N	0.005481	D	0.86472	0.5941	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.71935	-0.4442	10	0.29301	T	0.29	-1.441	7.5421	0.27744	0.0:0.493:0.0:0.507	.	58;58	Q96J66-2;Q96J66	.;ABCCB_HUMAN	I	58	ENSP00000311326:V58I;ENSP00000349017:V58I;ENSP00000378231:V58I;ENSP00000378230:V58I;ENSP00000438530:V58I	ENSP00000311326:V58I	V	-	1	0	ABCC11	46821913	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.331000	0.07914	-0.224000	0.09928	0.591000	0.81541	GTC	ABCC11	-	NULL	ENSG00000121270		0.532	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0.00	92	0	C	NM_032583		48264412	-1	tier1	-	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.000	T
ABCF1	23	genome.wustl.edu	37	6	30545854	30545854	+	Splice_Site	DEL	A	A	-	rs555740367		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:30545854delA	ENST00000326195.8	+	4	330	c.218delA	c.(217-219)caa>ca	p.Q73fs	ABCF1_ENST00000396515.4_Splice_Site_p.Q73fs|ABCF1_ENST00000376545.3_Splice_Site_p.Q73fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	73					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCTCAGCAGCAAAAAAAAAAG	0.493																																																	0									,	66,405,3793		0,0,66,1,403,1662	64.0	70.0	68.0		,	5.5	1.0	6		71	105,634,7515		0,1,104,0,633,3389	no	codingComplex-near-splice,codingComplex-near-splice	ABCF1	NM_001090.2,NM_001025091.1	,	0,1,170,1,1036,5051	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9532,11.046,9.6661	,	,	30545854	171,1039,11308	2203	4300	6503	SO:0001630	splice_region_variant	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.217-1A>-	6.37:g.30545854delA			A2BF75|O14897|Q69YP6	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K76fs	ENST00000326195.8	37	c.218	CCDS34380.1	6																																																																																			ABCF1	-	NULL	ENSG00000204574		0.493	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3		0.00	43	0	A		Frame_Shift_Del	30545854	+1	tier1		no_errors	ENST00000326195	ensembl	human	known	74_37	frame_shift_del	27.27	16	6	DEL	1.000	-
ABHD15	116236	genome.wustl.edu	37	17	27889973	27889973	+	Missense_Mutation	SNP	C	C	T	rs540488510		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:27889973C>T	ENST00000307201.4	-	2	1183	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	338						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CGGGTCGTTGCGGTCCCAGTA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18451	0.0		0.0	False		,,,				2504	0.001																0													68.0	62.0	64.0					17																	27889973		2203	4300	6503	SO:0001583	missense	0			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1013G>A	17.37:g.27889973C>T	ENSP00000302657:p.Arg338His		Q96EC5	Missense_Mutation	SNP	pirsf_AB-Hydro_YheT	p.R338H	ENST00000307201.4	37	c.1013	CCDS32602.1	17	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024774	0.35701	.	.	ENSG00000168792	ENST00000307201	T	0.16324	2.35	5.92	-3.92	0.04155	.	0.492245	0.20683	N	0.087603	T	0.06600	0.0169	N	0.12746	0.255	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.21245	-1.0251	10	0.33940	T	0.23	-9.8671	5.604	0.17369	0.2096:0.3186:0.0:0.4719	.	338	Q6UXT9	ABH15_HUMAN	H	338	ENSP00000302657:R338H	ENSP00000302657:R338H	R	-	2	0	ABHD15	24914099	0.001000	0.12720	0.949000	0.38748	0.992000	0.81027	-0.003000	0.12901	-0.514000	0.06488	-0.140000	0.14226	CGC	ABHD15	-	pirsf_AB-Hydro_YheT	ENSG00000168792		0.597	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD15	HGNC	protein_coding	OTTHUMT00000447796.2	-	0.00	82	0	C	NM_198147		27889973	-1	tier1	-	no_errors	ENST00000307201	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.003	T
ABHD15	116236	genome.wustl.edu	37	17	27889973	27889973	+	Missense_Mutation	SNP	C	C	T	rs540488510		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:27889973C>T	ENST00000307201.4	-	2	1183	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	338						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CGGGTCGTTGCGGTCCCAGTA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18451	0.0		0.0	False		,,,				2504	0.001																0													68.0	62.0	64.0					17																	27889973		2203	4300	6503	SO:0001583	missense	0			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1013G>A	17.37:g.27889973C>T	ENSP00000302657:p.Arg338His		Q96EC5	Missense_Mutation	SNP	pirsf_AB-Hydro_YheT	p.R338H	ENST00000307201.4	37	c.1013	CCDS32602.1	17	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024774	0.35701	.	.	ENSG00000168792	ENST00000307201	T	0.16324	2.35	5.92	-3.92	0.04155	.	0.492245	0.20683	N	0.087603	T	0.06600	0.0169	N	0.12746	0.255	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.21245	-1.0251	10	0.33940	T	0.23	-9.8671	5.604	0.17369	0.2096:0.3186:0.0:0.4719	.	338	Q6UXT9	ABH15_HUMAN	H	338	ENSP00000302657:R338H	ENSP00000302657:R338H	R	-	2	0	ABHD15	24914099	0.001000	0.12720	0.949000	0.38748	0.992000	0.81027	-0.003000	0.12901	-0.514000	0.06488	-0.140000	0.14226	CGC	ABHD15	-	pirsf_AB-Hydro_YheT	ENSG00000168792		0.597	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD15	HGNC	protein_coding	OTTHUMT00000447796.2	-	0.00	89	0	C	NM_198147		27889973	-1	tier1	-	no_errors	ENST00000307201	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.003	T
ABHD6	57406	genome.wustl.edu	37	3	58279350	58279350	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:58279350A>C	ENST00000478253.1	+	10	1373	c.872A>C	c.(871-873)aAg>aCg	p.K291T	ABHD6_ENST00000295962.4_Missense_Mutation_p.K291T			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	291					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ATGTTGGCCAAGTCAATTGCC	0.512																																																	0													93.0	85.0	88.0					3																	58279350		2203	4300	6503	SO:0001583	missense	0			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.872A>C	3.37:g.58279350A>C	ENSP00000420315:p.Lys291Thr		B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.K291T	ENST00000478253.1	37	c.872	CCDS2887.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.70|12.70	2.015109|2.015109	0.35511|0.35511	.|.	.|.	ENSG00000163686|ENSG00000163686	ENST00000478253;ENST00000295962|ENST00000511761	T;T|.	0.78707|.	-1.2;-1.2|.	5.6|5.6	3.19|3.19	0.36642|0.36642	.|.	0.360834|.	0.35525|.	N|.	0.003146|.	T|T	0.33118|0.33118	0.0852|0.0852	N|N	0.25485|0.25485	0.75|0.75	0.22675|0.22675	N|N	0.998866|0.998866	B|.	0.20550|.	0.046|.	B|.	0.21546|.	0.035|.	T|T	0.20107|0.20107	-1.0285|-1.0285	10|6	0.33940|0.46703	T|T	0.23|0.11	-11.4152|-11.4152	8.148|8.148	0.31124|0.31124	0.6786:0.0:0.3214:0.0|0.6786:0.0:0.3214:0.0	.|.	291|.	Q9BV23|.	ABHD6_HUMAN|.	T|H	291|290	ENSP00000420315:K291T;ENSP00000295962:K291T|.	ENSP00000295962:K291T|ENSP00000442448:Q290H	K|Q	+|+	2|3	0|2	ABHD6|ABHD6	58254390|58254390	0.062000|0.062000	0.20869|0.20869	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.625000|0.625000	0.24477|0.24477	0.393000|0.393000	0.25203|0.25203	0.533000|0.533000	0.62120|0.62120	AAG|CAA	ABHD6	-	pfam_AB_hydrolase_1,pfam_Ndr	ENSG00000163686		0.512	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD6	HGNC	protein_coding	OTTHUMT00000353511.1	-	0.00	55	0	A	NM_020676		58279350	+1	tier1	-	no_errors	ENST00000295962	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.288	C
ACACB	32	genome.wustl.edu	37	12	109684194	109684194	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:109684194G>A	ENST00000338432.7	+	39	5631	c.5512G>A	c.(5512-5514)Gca>Aca	p.A1838T	ACACB_ENST00000543201.1_Missense_Mutation_p.A504T|ACACB_ENST00000377854.5_Missense_Mutation_p.A1768T|ACACB_ENST00000377848.3_Missense_Mutation_p.A1838T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1838	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TATTGGCATGGCAGAGGAGAT	0.587																																																	0													70.0	72.0	71.0					12																	109684194		2203	4300	6503	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5512G>A	12.37:g.109684194G>A	ENSP00000341044:p.Ala1838Thr		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.A1838T	ENST00000338432.7	37	c.5512	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952374	0.92660	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51	5.14	4.24	0.50183	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.047958	0.85682	D	0.000000	D	0.98871	0.9618	H	0.94847	3.59	0.80722	D	1	D	0.54047	0.964	P	0.59761	0.863	D	0.99418	1.0932	10	0.87932	D	0	.	15.5028	0.75713	0.0:0.0:0.8608:0.1392	.	1838	O00763	ACACB_HUMAN	T	1838;1838;1768;1069;504	ENSP00000341044:A1838T;ENSP00000367079:A1838T;ENSP00000367085:A1768T;ENSP00000444075:A504T	ENSP00000341044:A1838T	A	+	1	0	ACACB	108168577	1.000000	0.71417	0.082000	0.20525	0.967000	0.64934	7.991000	0.88244	1.284000	0.44531	0.561000	0.74099	GCA	ACACB	-	pfam_Carboxyl_trans,pfscan_COA_CT_N	ENSG00000076555		0.587	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1		0.00	88	0	G	NM_001093		109684194	+1			no_errors	ENST00000338432	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.999	A
ACAD11	84129	genome.wustl.edu	37	3	132294705	132294705	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:132294705T>C	ENST00000264990.6	-	17	2883	c.1912A>G	c.(1912-1914)Aga>Gga	p.R638G	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.R163G	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	638					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CCTACTGTTCTCATACAGTGG	0.488																																																	0													103.0	97.0	99.0					3																	132294705		2203	4300	6503	SO:0001583	missense	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1912A>G	3.37:g.132294705T>C	ENSP00000264990:p.Arg638Gly		Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.R638G	ENST00000264990.6	37	c.1912	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338978	0.81911	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.95885	-3.84;-3.84	5.59	3.05	0.35203	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.97904	0.9311	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98106	1.0417	9	0.87932	D	0	.	11.7116	0.51628	0.0:0.0:0.2795:0.7205	.	638	Q709F0	ACD11_HUMAN	G	638;163	ENSP00000264990:R638G;ENSP00000446263:R163G	ENSP00000264990:R638G	R	-	1	2	ACAD11	133777395	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	1.778000	0.38614	0.910000	0.36722	0.482000	0.46254	AGA	ACAD11	-	pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000240303		0.488	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2		0.00	63	0	T	NM_032169		132294705	-1			no_errors	ENST00000264990	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	C
ACAP2	23527	genome.wustl.edu	37	3	195063340	195063340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:195063340delC	ENST00000326793.6	-	6	618	c.388delG	c.(388-390)gtcfs	p.V130fs		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	130	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TCTTCACTGACTTTTTCGAAT	0.313																																																	0													142.0	128.0	132.0					3																	195063340		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.388delG	3.37:g.195063340delC	ENSP00000324287:p.Val130fs		A8K2V4|Q8N5Z8|Q9UQR3	Frame_Shift_Del	DEL	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.V130fs	ENST00000326793.6	37	c.388	CCDS33924.1	3																																																																																			ACAP2	-	NULL	ENSG00000114331		0.313	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2		0.00	50	0	C	NM_012287		195063340	-1	tier1		no_errors	ENST00000326793	ensembl	human	known	74_37	frame_shift_del	20.34	47	12	DEL	1.000	-
ACAP2	23527	genome.wustl.edu	37	3	195063340	195063340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:195063340delC	ENST00000326793.6	-	6	618	c.388delG	c.(388-390)gtcfs	p.V130fs		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	130	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TCTTCACTGACTTTTTCGAAT	0.313																																																	0													142.0	128.0	132.0					3																	195063340		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.388delG	3.37:g.195063340delC	ENSP00000324287:p.Val130fs		A8K2V4|Q8N5Z8|Q9UQR3	Frame_Shift_Del	DEL	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.V130fs	ENST00000326793.6	37	c.388	CCDS33924.1	3																																																																																			ACAP2	-	NULL	ENSG00000114331		0.313	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2		0.00	71	0	C	NM_012287		195063340	-1	tier1		no_errors	ENST00000326793	ensembl	human	known	74_37	frame_shift_del	20.34	47	12	DEL	1.000	-
ACHE	43	genome.wustl.edu	37	7	100490202	100490202	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:100490202G>A	ENST00000412389.1	-	2	1461	c.1306C>T	c.(1306-1308)Cac>Tac	p.H436Y	ACHE_ENST00000428317.1_Missense_Mutation_p.H436Y|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000411582.1_Missense_Mutation_p.H436Y|ACHE_ENST00000241069.5_Missense_Mutation_p.H436Y|ACHE_ENST00000419336.2_Intron|ACHE_ENST00000302913.4_Missense_Mutation_p.H436Y			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	436					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	ACGACATTGTGGTCGCCCACC	0.667																																																	0													34.0	36.0	35.0					7																	100490202		2202	4298	6500	SO:0001583	missense	0				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1306C>T	7.37:g.100490202G>A	ENSP00000394976:p.His436Tyr		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.H436Y	ENST00000412389.1	37	c.1306	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	G	2.497	-0.316080	0.05422	.	.	ENSG00000087085	ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000411582;ENST00000422451	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	3.92	3.92	0.45320	Carboxylesterase, type B (1);	0.056204	0.64402	D	0.000001	T	0.06050	0.0157	N	0.00823	-1.155	0.53688	D	0.999979	P;P	0.46327	0.876;0.814	B;B	0.37508	0.252;0.238	T	0.42207	-0.9465	9	.	.	.	.	13.7912	0.63143	0.0:0.0:1.0:0.0	.	436;436	P22303-2;P22303	.;ACES_HUMAN	Y	436	ENSP00000241069:H436Y;ENSP00000414858:H436Y;ENSP00000303211:H436Y;ENSP00000394976:H436Y;ENSP00000404865:H436Y	.	H	-	1	0	ACHE	100328138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.810000	0.47979	2.202000	0.70862	0.491000	0.48974	CAC	ACHE	-	pfam_CarbesteraseB,prints_Cholinesterase	ENSG00000087085		0.667	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	-	0.00	107	0	G	NM_015831		100490202	-1	tier1	-	no_errors	ENST00000302913	ensembl	human	known	74_37	missense	5.96	220	14	SNP	1.000	A
ACHE	43	genome.wustl.edu	37	7	100490202	100490202	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:100490202G>A	ENST00000412389.1	-	2	1461	c.1306C>T	c.(1306-1308)Cac>Tac	p.H436Y	ACHE_ENST00000428317.1_Missense_Mutation_p.H436Y|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000411582.1_Missense_Mutation_p.H436Y|ACHE_ENST00000241069.5_Missense_Mutation_p.H436Y|ACHE_ENST00000419336.2_Intron|ACHE_ENST00000302913.4_Missense_Mutation_p.H436Y			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	436					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	ACGACATTGTGGTCGCCCACC	0.667																																																	0													34.0	36.0	35.0					7																	100490202		2202	4298	6500	SO:0001583	missense	0				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1306C>T	7.37:g.100490202G>A	ENSP00000394976:p.His436Tyr		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.H436Y	ENST00000412389.1	37	c.1306	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	G	2.497	-0.316080	0.05422	.	.	ENSG00000087085	ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000411582;ENST00000422451	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	3.92	3.92	0.45320	Carboxylesterase, type B (1);	0.056204	0.64402	D	0.000001	T	0.06050	0.0157	N	0.00823	-1.155	0.53688	D	0.999979	P;P	0.46327	0.876;0.814	B;B	0.37508	0.252;0.238	T	0.42207	-0.9465	9	.	.	.	.	13.7912	0.63143	0.0:0.0:1.0:0.0	.	436;436	P22303-2;P22303	.;ACES_HUMAN	Y	436	ENSP00000241069:H436Y;ENSP00000414858:H436Y;ENSP00000303211:H436Y;ENSP00000394976:H436Y;ENSP00000404865:H436Y	.	H	-	1	0	ACHE	100328138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.810000	0.47979	2.202000	0.70862	0.491000	0.48974	CAC	ACHE	-	pfam_CarbesteraseB,prints_Cholinesterase	ENSG00000087085		0.667	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	-	0.00	117	0	G	NM_015831		100490202	-1	tier1	-	no_errors	ENST00000302913	ensembl	human	known	74_37	missense	5.96	220	14	SNP	1.000	A
ACP2	53	genome.wustl.edu	37	11	47269238	47269238	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:47269238C>T	ENST00000256997.3	-	3	367	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	NR1H3_ENST00000395397.3_5'Flank|ACP2_ENST00000529444.1_Missense_Mutation_p.R84Q|ACP2_ENST00000527256.1_Missense_Mutation_p.R52Q|ACP2_ENST00000537863.1_5'UTR|NR1H3_ENST00000407404.1_5'Flank|ACP2_ENST00000444355.2_Missense_Mutation_p.R84Q|ACP2_ENST00000530453.1_Missense_Mutation_p.R84Q|ACP2_ENST00000525230.1_5'Flank|NR1H3_ENST00000405576.1_5'Flank|NR1H3_ENST00000481889.2_5'Flank|ACP2_ENST00000529788.1_Missense_Mutation_p.R84Q|ACP2_ENST00000533929.1_Missense_Mutation_p.R56Q	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	84					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						ATAGCGCTGCCGCAGGGCCTG	0.582																																					Melanoma(90;262 1440 11488 44828 48531)												0													89.0	79.0	82.0					11																	47269238		2201	4298	6499	SO:0001583	missense	0			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.251G>A	11.37:g.47269238C>T	ENSP00000256997:p.Arg84Gln		E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.R84Q	ENST00000256997.3	37	c.251	CCDS7928.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.625775	0.96671	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000533929;ENST00000529663;ENST00000530453;ENST00000444355;ENST00000529788	T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.53	5.53	0.82687	.	0.051511	0.85682	D	0.000000	T	0.76557	0.4004	M	0.91612	3.225	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77557	0.874;0.919;0.985;0.959;0.99	T	0.81990	-0.0679	10	0.87932	D	0	.	19.076	0.93161	0.0:1.0:0.0:0.0	.	84;84;52;56;84	E9PCI1;E9PHY0;B7Z7D2;E9PQY3;P11117	.;.;.;.;PPAL_HUMAN	Q	84;84;52;56;84;84;84;84	ENSP00000256997:R84Q;ENSP00000436658:R84Q;ENSP00000432205:R52Q;ENSP00000432439:R56Q;ENSP00000436487:R84Q;ENSP00000434205:R84Q;ENSP00000414911:R84Q;ENSP00000436828:R84Q	ENSP00000256997:R84Q	R	-	2	0	ACP2	47225814	0.993000	0.37304	1.000000	0.80357	0.958000	0.62258	3.137000	0.50562	2.596000	0.87737	0.655000	0.94253	CGG	ACP2	-	pfam_His_Pase_superF_clade-2	ENSG00000134575		0.582	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACP2	HGNC	protein_coding	OTTHUMT00000392022.2	-	0.00	89	0	C	NM_001610		47269238	-1	tier1	-	no_errors	ENST00000256997	ensembl	human	known	74_37	missense	11.76	60	8	SNP	0.994	T
ACP2	53	genome.wustl.edu	37	11	47269238	47269238	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:47269238C>T	ENST00000256997.3	-	3	367	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	NR1H3_ENST00000395397.3_5'Flank|ACP2_ENST00000529444.1_Missense_Mutation_p.R84Q|ACP2_ENST00000527256.1_Missense_Mutation_p.R52Q|ACP2_ENST00000537863.1_5'UTR|NR1H3_ENST00000407404.1_5'Flank|ACP2_ENST00000444355.2_Missense_Mutation_p.R84Q|ACP2_ENST00000530453.1_Missense_Mutation_p.R84Q|ACP2_ENST00000525230.1_5'Flank|NR1H3_ENST00000405576.1_5'Flank|NR1H3_ENST00000481889.2_5'Flank|ACP2_ENST00000529788.1_Missense_Mutation_p.R84Q|ACP2_ENST00000533929.1_Missense_Mutation_p.R56Q	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	84					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						ATAGCGCTGCCGCAGGGCCTG	0.582																																					Melanoma(90;262 1440 11488 44828 48531)												0													89.0	79.0	82.0					11																	47269238		2201	4298	6499	SO:0001583	missense	0			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.251G>A	11.37:g.47269238C>T	ENSP00000256997:p.Arg84Gln		E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.R84Q	ENST00000256997.3	37	c.251	CCDS7928.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.625775	0.96671	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000533929;ENST00000529663;ENST00000530453;ENST00000444355;ENST00000529788	T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.53	5.53	0.82687	.	0.051511	0.85682	D	0.000000	T	0.76557	0.4004	M	0.91612	3.225	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77557	0.874;0.919;0.985;0.959;0.99	T	0.81990	-0.0679	10	0.87932	D	0	.	19.076	0.93161	0.0:1.0:0.0:0.0	.	84;84;52;56;84	E9PCI1;E9PHY0;B7Z7D2;E9PQY3;P11117	.;.;.;.;PPAL_HUMAN	Q	84;84;52;56;84;84;84;84	ENSP00000256997:R84Q;ENSP00000436658:R84Q;ENSP00000432205:R52Q;ENSP00000432439:R56Q;ENSP00000436487:R84Q;ENSP00000434205:R84Q;ENSP00000414911:R84Q;ENSP00000436828:R84Q	ENSP00000256997:R84Q	R	-	2	0	ACP2	47225814	0.993000	0.37304	1.000000	0.80357	0.958000	0.62258	3.137000	0.50562	2.596000	0.87737	0.655000	0.94253	CGG	ACP2	-	pfam_His_Pase_superF_clade-2	ENSG00000134575		0.582	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACP2	HGNC	protein_coding	OTTHUMT00000392022.2	-	0.00	96	0	C	NM_001610		47269238	-1	tier1	-	no_errors	ENST00000256997	ensembl	human	known	74_37	missense	11.76	60	8	SNP	0.994	T
PXYLP1	92370	genome.wustl.edu	37	3	141011698	141011698	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:141011698A>G	ENST00000286353.4	+	6	1231	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	ACPL2_ENST00000504264.1_Missense_Mutation_p.E348G|ACPL2_ENST00000508812.1_Missense_Mutation_p.E356G|ACPL2_ENST00000502783.1_Missense_Mutation_p.E327G|ACPL2_ENST00000393007.1_Missense_Mutation_p.E349G|ACPL2_ENST00000393010.2_Missense_Mutation_p.E365G|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		365						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CGTGCCACCGAGGGCAGGAAA	0.552																																																	0													152.0	115.0	127.0					3																	141011698		2203	4300	6503	SO:0001583	missense	0																														ENST00000286353.4:c.1094A>G	3.37:g.141011698A>G	ENSP00000286353:p.Glu365Gly		D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.E365G	ENST00000286353.4	37	c.1094	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416293	0.25552	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.48	-1.37	0.09056	.	0.625902	0.17771	N	0.162583	T	0.14657	0.0354	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.11817	-1.0572	10	0.32370	T	0.25	.	1.8905	0.03246	0.4157:0.2594:0.0741:0.2508	.	348;365	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	G	365;327;365;348;356;349;173	ENSP00000286353:E365G;ENSP00000422558:E327G;ENSP00000376733:E365G;ENSP00000426877:E348G;ENSP00000422901:E356G;ENSP00000376731:E349G	ENSP00000286353:E365G	E	+	2	0	ACPL2	142494388	0.005000	0.15991	0.001000	0.08648	0.785000	0.44390	0.684000	0.25364	-0.219000	0.10003	0.533000	0.62120	GAG	ACPL2	-	pfam_His_Pase_superF_clade-2	ENSG00000155893		0.552	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	HGNC	protein_coding	OTTHUMT00000359533.2	-	0.00	46	0	A			141011698	+1	tier1	-	no_errors	ENST00000286353	ensembl	human	known	74_37	missense	30.95	29	13	SNP	0.014	G
PXYLP1	92370	genome.wustl.edu	37	3	141011698	141011698	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:141011698A>G	ENST00000286353.4	+	6	1231	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	ACPL2_ENST00000504264.1_Missense_Mutation_p.E348G|ACPL2_ENST00000508812.1_Missense_Mutation_p.E356G|ACPL2_ENST00000502783.1_Missense_Mutation_p.E327G|ACPL2_ENST00000393007.1_Missense_Mutation_p.E349G|ACPL2_ENST00000393010.2_Missense_Mutation_p.E365G|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		365						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CGTGCCACCGAGGGCAGGAAA	0.552																																																	0													152.0	115.0	127.0					3																	141011698		2203	4300	6503	SO:0001583	missense	0																														ENST00000286353.4:c.1094A>G	3.37:g.141011698A>G	ENSP00000286353:p.Glu365Gly		D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.E365G	ENST00000286353.4	37	c.1094	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416293	0.25552	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.48	-1.37	0.09056	.	0.625902	0.17771	N	0.162583	T	0.14657	0.0354	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.11817	-1.0572	10	0.32370	T	0.25	.	1.8905	0.03246	0.4157:0.2594:0.0741:0.2508	.	348;365	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	G	365;327;365;348;356;349;173	ENSP00000286353:E365G;ENSP00000422558:E327G;ENSP00000376733:E365G;ENSP00000426877:E348G;ENSP00000422901:E356G;ENSP00000376731:E349G	ENSP00000286353:E365G	E	+	2	0	ACPL2	142494388	0.005000	0.15991	0.001000	0.08648	0.785000	0.44390	0.684000	0.25364	-0.219000	0.10003	0.533000	0.62120	GAG	ACPL2	-	pfam_His_Pase_superF_clade-2	ENSG00000155893		0.552	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	HGNC	protein_coding	OTTHUMT00000359533.2	-	0.00	63	0	A			141011698	+1	tier1	-	no_errors	ENST00000286353	ensembl	human	known	74_37	missense	30.95	29	13	SNP	0.014	G
ACSM2B	348158	genome.wustl.edu	37	16	20566633	20566633	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:20566633T>G	ENST00000329697.6	-	4	722	c.554A>C	c.(553-555)gAg>gCg	p.E185A	ACSM2B_ENST00000414188.2_Missense_Mutation_p.E185A|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E106A|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E185A|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E185A	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	185					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCAGCTTTTCTCAGACACCAG	0.443																																																	0													247.0	233.0	238.0					16																	20566633		2201	4300	6501	SO:0001583	missense	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.554A>C	16.37:g.20566633T>G	ENSP00000327453:p.Glu185Ala		Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E185A	ENST00000329697.6	37	c.554	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	T	4.272	0.049626	0.08243	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.48836	1.08;0.8	3.11	1.96	0.26148	AMP-dependent synthetase/ligase (1);	0.153716	0.29924	N	0.010844	T	0.31734	0.0806	L	0.33137	0.985	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.01	T	0.16867	-1.0388	10	0.23891	T	0.37	-11.6364	8.0979	0.30840	0.0:0.0:0.4021:0.5979	.	185;185	A8K051;Q68CK6	.;ACS2B_HUMAN	A	185	ENSP00000327453:E185A;ENSP00000390378:E185A	ENSP00000327453:E185A	E	-	2	0	ACSM2B	20474134	0.003000	0.15002	0.727000	0.30756	0.201000	0.24016	1.277000	0.33167	0.369000	0.24510	0.496000	0.49642	GAG	ACSM2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066813		0.443	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	-	0.00	119	0	T	NM_182617		20566633	-1	tier1	-	no_errors	ENST00000329697	ensembl	human	known	74_37	missense	24.21	72	23	SNP	0.141	G
ACSM2B	348158	genome.wustl.edu	37	16	20566633	20566633	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:20566633T>G	ENST00000329697.6	-	4	722	c.554A>C	c.(553-555)gAg>gCg	p.E185A	ACSM2B_ENST00000414188.2_Missense_Mutation_p.E185A|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E106A|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E185A|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E185A	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	185					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCAGCTTTTCTCAGACACCAG	0.443																																																	0													247.0	233.0	238.0					16																	20566633		2201	4300	6501	SO:0001583	missense	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.554A>C	16.37:g.20566633T>G	ENSP00000327453:p.Glu185Ala		Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E185A	ENST00000329697.6	37	c.554	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	T	4.272	0.049626	0.08243	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.48836	1.08;0.8	3.11	1.96	0.26148	AMP-dependent synthetase/ligase (1);	0.153716	0.29924	N	0.010844	T	0.31734	0.0806	L	0.33137	0.985	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.01	T	0.16867	-1.0388	10	0.23891	T	0.37	-11.6364	8.0979	0.30840	0.0:0.0:0.4021:0.5979	.	185;185	A8K051;Q68CK6	.;ACS2B_HUMAN	A	185	ENSP00000327453:E185A;ENSP00000390378:E185A	ENSP00000327453:E185A	E	-	2	0	ACSM2B	20474134	0.003000	0.15002	0.727000	0.30756	0.201000	0.24016	1.277000	0.33167	0.369000	0.24510	0.496000	0.49642	GAG	ACSM2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066813		0.443	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	-	0.00	140	0	T	NM_182617		20566633	-1	tier1	-	no_errors	ENST00000329697	ensembl	human	known	74_37	missense	24.21	72	23	SNP	0.141	G
ACTL7A	10881	genome.wustl.edu	37	9	111625588	111625588	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:111625588A>T	ENST00000333999.3	+	1	986	c.986A>T	c.(985-987)aAg>aTg	p.K329M		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	329						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTCTCATCAAGTCCATGCAG	0.572																																					Esophageal Squamous(177;1480 3591 17554)												0													137.0	123.0	128.0					9																	111625588		2203	4300	6503	SO:0001583	missense	0			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.986A>T	9.37:g.111625588A>T	ENSP00000334300:p.Lys329Met		B2RC83|Q5JSV0	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.K329M	ENST00000333999.3	37	c.986	CCDS6772.1	9	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201602	0.58234	.	.	ENSG00000187003	ENST00000333999	T	0.31247	1.5	5.47	3.13	0.36017	.	0.134135	0.33875	N	0.004480	T	0.35068	0.0919	L	0.31926	0.97	0.34632	D	0.719679	D	0.55172	0.97	P	0.59948	0.866	T	0.48479	-0.9032	10	0.87932	D	0	.	6.5458	0.22404	0.8139:0.0:0.1861:0.0	.	329	Q9Y615	ACL7A_HUMAN	M	329	ENSP00000334300:K329M	ENSP00000334300:K329M	K	+	2	0	ACTL7A	110665409	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.646000	0.46630	1.013000	0.39391	0.533000	0.62120	AAG	ACTL7A	-	pfam_Actin-related,smart_Actin-related	ENSG00000187003		0.572	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	HGNC	protein_coding	OTTHUMT00000053570.1	-	0.00	50	0	A	NM_006687		111625588	+1	tier1	-	no_errors	ENST00000333999	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	T
ACTL7A	10881	genome.wustl.edu	37	9	111625588	111625588	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:111625588A>T	ENST00000333999.3	+	1	986	c.986A>T	c.(985-987)aAg>aTg	p.K329M		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	329						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTCTCATCAAGTCCATGCAG	0.572																																					Esophageal Squamous(177;1480 3591 17554)												0													137.0	123.0	128.0					9																	111625588		2203	4300	6503	SO:0001583	missense	0			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.986A>T	9.37:g.111625588A>T	ENSP00000334300:p.Lys329Met		B2RC83|Q5JSV0	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.K329M	ENST00000333999.3	37	c.986	CCDS6772.1	9	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201602	0.58234	.	.	ENSG00000187003	ENST00000333999	T	0.31247	1.5	5.47	3.13	0.36017	.	0.134135	0.33875	N	0.004480	T	0.35068	0.0919	L	0.31926	0.97	0.34632	D	0.719679	D	0.55172	0.97	P	0.59948	0.866	T	0.48479	-0.9032	10	0.87932	D	0	.	6.5458	0.22404	0.8139:0.0:0.1861:0.0	.	329	Q9Y615	ACL7A_HUMAN	M	329	ENSP00000334300:K329M	ENSP00000334300:K329M	K	+	2	0	ACTL7A	110665409	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.646000	0.46630	1.013000	0.39391	0.533000	0.62120	AAG	ACTL7A	-	pfam_Actin-related,smart_Actin-related	ENSG00000187003		0.572	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	HGNC	protein_coding	OTTHUMT00000053570.1	-	0.00	55	0	A	NM_006687		111625588	+1	tier1	-	no_errors	ENST00000333999	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	T
ACTR3B	57180	genome.wustl.edu	37	7	152513671	152513671	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:152513671G>T	ENST00000256001.8	+	6	672	c.538G>T	c.(538-540)Gtg>Ttg	p.V180L	ACTR3B_ENST00000397282.2_Missense_Mutation_p.V92L|ACTR3B_ENST00000537264.1_Missense_Mutation_p.V92L|ACTR3B_ENST00000377776.3_Missense_Mutation_p.V180L	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	180						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		TGTTATCCCAGTGGTAAGCAG	0.433																																																	0													44.0	35.0	38.0					7																	152513671		2202	4295	6497	SO:0001583	missense	0				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.538G>T	7.37:g.152513671G>T	ENSP00000256001:p.Val180Leu		A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.V180L	ENST00000256001.8	37	c.538	CCDS5934.1	7	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214875	0.58452	.	.	ENSG00000133627	ENST00000377776;ENST00000256001;ENST00000397282;ENST00000537264	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	4.66	4.66	0.58398	.	0.000000	0.56097	U	0.000036	D	0.97182	0.9079	H	0.95294	3.65	0.53688	D	0.999979	B;B	0.25441	0.126;0.021	B;B	0.25614	0.044;0.062	D	0.97199	0.9863	10	0.59425	D	0.04	-9.1292	16.5518	0.84474	0.0:0.0:1.0:0.0	.	180;180	Q9P1U1-3;Q9P1U1	.;ARP3B_HUMAN	L	180;180;92;92	ENSP00000367007:V180L;ENSP00000256001:V180L;ENSP00000380452:V92L;ENSP00000446157:V92L	ENSP00000256001:V180L	V	+	1	0	ACTR3B	152144604	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	9.470000	0.97683	2.137000	0.66172	0.491000	0.48974	GTG	ACTR3B	-	pfam_Actin-related,smart_Actin-related	ENSG00000133627		0.433	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	-	0.00	104	0	G	NM_020445		152513671	+1	tier1	-	no_errors	ENST00000256001	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
ACTR3B	57180	genome.wustl.edu	37	7	152513671	152513671	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:152513671G>T	ENST00000256001.8	+	6	672	c.538G>T	c.(538-540)Gtg>Ttg	p.V180L	ACTR3B_ENST00000397282.2_Missense_Mutation_p.V92L|ACTR3B_ENST00000537264.1_Missense_Mutation_p.V92L|ACTR3B_ENST00000377776.3_Missense_Mutation_p.V180L	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	180						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		TGTTATCCCAGTGGTAAGCAG	0.433																																																	0													44.0	35.0	38.0					7																	152513671		2202	4295	6497	SO:0001583	missense	0				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.538G>T	7.37:g.152513671G>T	ENSP00000256001:p.Val180Leu		A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.V180L	ENST00000256001.8	37	c.538	CCDS5934.1	7	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214875	0.58452	.	.	ENSG00000133627	ENST00000377776;ENST00000256001;ENST00000397282;ENST00000537264	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	4.66	4.66	0.58398	.	0.000000	0.56097	U	0.000036	D	0.97182	0.9079	H	0.95294	3.65	0.53688	D	0.999979	B;B	0.25441	0.126;0.021	B;B	0.25614	0.044;0.062	D	0.97199	0.9863	10	0.59425	D	0.04	-9.1292	16.5518	0.84474	0.0:0.0:1.0:0.0	.	180;180	Q9P1U1-3;Q9P1U1	.;ARP3B_HUMAN	L	180;180;92;92	ENSP00000367007:V180L;ENSP00000256001:V180L;ENSP00000380452:V92L;ENSP00000446157:V92L	ENSP00000256001:V180L	V	+	1	0	ACTR3B	152144604	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	9.470000	0.97683	2.137000	0.66172	0.491000	0.48974	GTG	ACTR3B	-	pfam_Actin-related,smart_Actin-related	ENSG00000133627		0.433	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	-	0.00	64	0	G	NM_020445		152513671	+1	tier1	-	no_errors	ENST00000256001	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
ADAM3A	1587	genome.wustl.edu	37	8	39362957	39362957	+	RNA	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:39362957C>T	ENST00000490268.2	-	0	387					NR_073423.1				ADAM metallopeptidase domain 3A (pseudogene)																		ATTTTTAATTCGATAAACTAC	0.333																																																	0																																												0			X89657		8p11.22	2012-06-11	2012-06-11		ENSG00000197475	ENSG00000197475		"""ADAM metallopeptidase domain containing"""	209	pseudogene	pseudogene			"""cyritestin 1"", ""a disintegrin and metalloproteinase domain 3a (cyritestin 1)"", ""ADAM metallopeptidase domain 3A, pseudogene"", ""ADAM metallopeptidase domain 3A"""	CYRN1		9502432, 11439107	Standard	NR_024107		Approved	ADAM3, tMDCI	uc003xnf.4		OTTHUMG00000154991		8.37:g.39362957C>T				RNA	SNP	-	NULL	ENST00000490268.2	37	NULL		8																																																																																			ADAM3A	-	-	ENSG00000197475		0.333	ADAM3A-005	KNOWN	basic	processed_transcript	ADAM3A	HGNC	pseudogene	OTTHUMT00000337953.1	-	0.00	119	0	C	NR_001569		39362957	-1	tier1	-	no_errors	ENST00000460383	ensembl	human	known	74_37	rna	17.07	68	14	SNP	0.024	T
ADAM3A	1587	genome.wustl.edu	37	8	39362957	39362957	+	RNA	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:39362957C>T	ENST00000490268.2	-	0	387					NR_073423.1				ADAM metallopeptidase domain 3A (pseudogene)																		ATTTTTAATTCGATAAACTAC	0.333																																																	0																																												0			X89657		8p11.22	2012-06-11	2012-06-11		ENSG00000197475	ENSG00000197475		"""ADAM metallopeptidase domain containing"""	209	pseudogene	pseudogene			"""cyritestin 1"", ""a disintegrin and metalloproteinase domain 3a (cyritestin 1)"", ""ADAM metallopeptidase domain 3A, pseudogene"", ""ADAM metallopeptidase domain 3A"""	CYRN1		9502432, 11439107	Standard	NR_024107		Approved	ADAM3, tMDCI	uc003xnf.4		OTTHUMG00000154991		8.37:g.39362957C>T				RNA	SNP	-	NULL	ENST00000490268.2	37	NULL		8																																																																																			ADAM3A	-	-	ENSG00000197475		0.333	ADAM3A-005	KNOWN	basic	processed_transcript	ADAM3A	HGNC	pseudogene	OTTHUMT00000337953.1	-	0.00	64	0	C	NR_001569		39362957	-1	tier1	-	no_errors	ENST00000460383	ensembl	human	known	74_37	rna	17.07	68	14	SNP	0.024	T
ADAMTS14	140766	genome.wustl.edu	37	10	72517717	72517717	+	Splice_Site	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:72517717G>C	ENST00000373207.1	+	20	2937		c.e20-1		ADAMTS14_ENST00000373208.1_Splice_Site	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14						collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCCACGGCAGTGCTCTGCCA	0.657																																																	0													58.0	60.0	59.0					10																	72517717		2202	4298	6500	SO:0001630	splice_region_variant	0			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2938-1G>C	10.37:g.72517717G>C			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Splice_Site	SNP	-	e20-1	ENST00000373207.1	37	c.2947-1	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924193	0.52653	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3755	0.83383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTS14	72187723	1.000000	0.71417	0.999000	0.59377	0.454000	0.32378	9.650000	0.98490	2.180000	0.69256	0.462000	0.41574	.	ADAMTS14	-	-	ENSG00000138316		0.657	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	-	0.00	56	0	G	NM_080722	Intron	72517717	+1	tier1	-	no_errors	ENST00000373208	ensembl	human	known	74_37	splice_site	10.00	36	4	SNP	1.000	C
ADAMTS14	140766	genome.wustl.edu	37	10	72517717	72517717	+	Splice_Site	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:72517717G>C	ENST00000373207.1	+	20	2937		c.e20-1		ADAMTS14_ENST00000373208.1_Splice_Site	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14						collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCCACGGCAGTGCTCTGCCA	0.657																																																	0													58.0	60.0	59.0					10																	72517717		2202	4298	6500	SO:0001630	splice_region_variant	0			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2938-1G>C	10.37:g.72517717G>C			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Splice_Site	SNP	-	e20-1	ENST00000373207.1	37	c.2947-1	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924193	0.52653	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3755	0.83383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTS14	72187723	1.000000	0.71417	0.999000	0.59377	0.454000	0.32378	9.650000	0.98490	2.180000	0.69256	0.462000	0.41574	.	ADAMTS14	-	-	ENSG00000138316		0.657	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	-	0.00	58	0	G	NM_080722	Intron	72517717	+1	tier1	-	no_errors	ENST00000373208	ensembl	human	known	74_37	splice_site	10.00	36	4	SNP	1.000	C
ADAMTS18	170692	genome.wustl.edu	37	16	77353779	77353779	+	Silent	SNP	C	C	T	rs538095477		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:77353779C>T	ENST00000282849.5	-	16	2917	c.2499G>A	c.(2497-2499)gcG>gcA	p.A833A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	833	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A833A(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGGCCCTGGCGCGTACAGAC	0.542																																																	1	Substitution - coding silent(1)	large_intestine(1)											60.0	60.0	60.0					16																	77353779		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2499G>A	16.37:g.77353779C>T			Q6P4R5|Q6ZWJ9	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A833	ENST00000282849.5	37	c.2499	CCDS10926.1	16																																																																																			ADAMTS18	-	pfam_ADAM_spacer1	ENSG00000140873		0.542	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	-	0.00	82	0	C			77353779	-1	tier1	-	no_errors	ENST00000282849	ensembl	human	known	74_37	silent	33.33	34	17	SNP	0.004	T
ADAMTS6	11174	genome.wustl.edu	37	5	64447710	64447710	+	5'UTR	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:64447710G>C	ENST00000314351.5	-	0	966							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AAGTATGCTCGACTGCAGAAC	0.453																																																	0													144.0	136.0	138.0					5																	64447710		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-356C>G	5.37:g.64447710G>C			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R1103G	ENST00000314351.5	37	c.3307		5	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734833	0.48939	.	.	ENSG00000049192	ENST00000381055	T	0.48522	0.81	5.65	3.84	0.44239	PLAC (2);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58092	-0.7697	10	0.45353	T	0.12	.	15.0297	0.71696	0.0:0.0:0.7403:0.2597	.	1103	Q9UKP5	ATS6_HUMAN	G	1103	ENSP00000370443:R1103G	ENSP00000370443:R1103G	R	-	1	2	ADAMTS6	64483466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.224000	0.72265	0.904000	0.36572	0.655000	0.94253	CGA	ADAMTS6	-	pfam_PLAC,pfscan_PLAC	ENSG00000049192		0.453	ADAMTS6-006	KNOWN	basic	processed_transcript	ADAMTS6	HGNC	protein_coding	OTTHUMT00000157334.2	-	0.00	24	0	G	NM_197941		64447710	-1	tier1	-	no_errors	ENST00000381055	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	C
ADAMTS6	11174	genome.wustl.edu	37	5	64447710	64447710	+	5'UTR	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:64447710G>C	ENST00000314351.5	-	0	966							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AAGTATGCTCGACTGCAGAAC	0.453																																																	0													144.0	136.0	138.0					5																	64447710		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-356C>G	5.37:g.64447710G>C			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R1103G	ENST00000314351.5	37	c.3307		5	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734833	0.48939	.	.	ENSG00000049192	ENST00000381055	T	0.48522	0.81	5.65	3.84	0.44239	PLAC (2);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58092	-0.7697	10	0.45353	T	0.12	.	15.0297	0.71696	0.0:0.0:0.7403:0.2597	.	1103	Q9UKP5	ATS6_HUMAN	G	1103	ENSP00000370443:R1103G	ENSP00000370443:R1103G	R	-	1	2	ADAMTS6	64483466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.224000	0.72265	0.904000	0.36572	0.655000	0.94253	CGA	ADAMTS6	-	pfam_PLAC,pfscan_PLAC	ENSG00000049192		0.453	ADAMTS6-006	KNOWN	basic	processed_transcript	ADAMTS6	HGNC	protein_coding	OTTHUMT00000157334.2	-	0.00	52	0	G	NM_197941		64447710	-1	tier1	-	no_errors	ENST00000381055	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	C
ADAMTS19	171019	genome.wustl.edu	37	5	128984537	128984537	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:128984537A>G	ENST00000274487.4	+	13	2177	c.2032A>G	c.(2032-2034)Aga>Gga	p.R678G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	678	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAACAATACAGAATATGTGA	0.378																																																	0													114.0	120.0	118.0					5																	128984537		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2032A>G	5.37:g.128984537A>G	ENSP00000274487:p.Arg678Gly			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,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.R678G	ENST00000274487.4	37	c.2032	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394965	0.42512	.	.	ENSG00000145808	ENST00000274487	T	0.56275	0.47	4.41	3.23	0.37069	.	0.146062	0.44097	D	0.000484	T	0.47967	0.1474	M	0.69248	2.105	0.49483	D	0.999793	P	0.36086	0.536	B	0.33960	0.173	T	0.46965	-0.9153	9	.	.	.	.	11.9066	0.52715	0.854:0.146:0.0:0.0	.	678	Q8TE59	ATS19_HUMAN	G	678	ENSP00000274487:R678G	.	R	+	1	2	ADAMTS19	129012436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.677000	0.61634	0.999000	0.39023	0.533000	0.62120	AGA	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.378	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0.00	135	0	A	NM_133638		128984537	+1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	6.90	81	6	SNP	1.000	G
ADAMTS19	171019	genome.wustl.edu	37	5	128984537	128984537	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:128984537A>G	ENST00000274487.4	+	13	2177	c.2032A>G	c.(2032-2034)Aga>Gga	p.R678G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	678	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAACAATACAGAATATGTGA	0.378																																																	0													114.0	120.0	118.0					5																	128984537		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2032A>G	5.37:g.128984537A>G	ENSP00000274487:p.Arg678Gly			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,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.R678G	ENST00000274487.4	37	c.2032	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394965	0.42512	.	.	ENSG00000145808	ENST00000274487	T	0.56275	0.47	4.41	3.23	0.37069	.	0.146062	0.44097	D	0.000484	T	0.47967	0.1474	M	0.69248	2.105	0.49483	D	0.999793	P	0.36086	0.536	B	0.33960	0.173	T	0.46965	-0.9153	9	.	.	.	.	11.9066	0.52715	0.854:0.146:0.0:0.0	.	678	Q8TE59	ATS19_HUMAN	G	678	ENSP00000274487:R678G	.	R	+	1	2	ADAMTS19	129012436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.677000	0.61634	0.999000	0.39023	0.533000	0.62120	AGA	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.378	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0.00	79	0	A	NM_133638		128984537	+1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	6.90	81	6	SNP	1.000	G
AEBP1	165	genome.wustl.edu	37	7	44147429	44147429	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:44147429A>G	ENST00000223357.3	+	5	1066	c.761A>G	c.(760-762)aAg>aGg	p.K254R	AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	254	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CGGCGCCAGAAGCAACCCAGG	0.692																																																	0													19.0	24.0	22.0					7																	44147429		2198	4293	6491	SO:0001583	missense	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.761A>G	7.37:g.44147429A>G	ENSP00000223357:p.Lys254Arg		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.K254R	ENST00000223357.3	37	c.761	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282036	0.59867	.	.	ENSG00000106624	ENST00000223357	T	0.49139	0.79	4.89	3.74	0.42951	.	8.367670	0.00166	N	0.000000	T	0.41811	0.1175	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22977	-1.0201	10	0.87932	D	0	-34.7116	8.1331	0.31039	0.9051:0.0:0.0949:0.0	.	254	Q8IUX7	AEBP1_HUMAN	R	254	ENSP00000223357:K254R	ENSP00000223357:K254R	K	+	2	0	AEBP1	44113954	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.070000	0.41491	0.735000	0.32537	0.402000	0.26972	AAG	AEBP1	-	NULL	ENSG00000106624		0.692	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	-	0.00	109	0	A	NM_001129		44147429	+1	tier1	-	no_errors	ENST00000223357	ensembl	human	known	74_37	missense	7.53	86	7	SNP	1.000	G
AEBP1	165	genome.wustl.edu	37	7	44147429	44147429	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:44147429A>G	ENST00000223357.3	+	5	1066	c.761A>G	c.(760-762)aAg>aGg	p.K254R	AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	254	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CGGCGCCAGAAGCAACCCAGG	0.692																																																	0													19.0	24.0	22.0					7																	44147429		2198	4293	6491	SO:0001583	missense	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.761A>G	7.37:g.44147429A>G	ENSP00000223357:p.Lys254Arg		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.K254R	ENST00000223357.3	37	c.761	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282036	0.59867	.	.	ENSG00000106624	ENST00000223357	T	0.49139	0.79	4.89	3.74	0.42951	.	8.367670	0.00166	N	0.000000	T	0.41811	0.1175	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22977	-1.0201	10	0.87932	D	0	-34.7116	8.1331	0.31039	0.9051:0.0:0.0949:0.0	.	254	Q8IUX7	AEBP1_HUMAN	R	254	ENSP00000223357:K254R	ENSP00000223357:K254R	K	+	2	0	AEBP1	44113954	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.070000	0.41491	0.735000	0.32537	0.402000	0.26972	AAG	AEBP1	-	NULL	ENSG00000106624		0.692	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	-	0.00	97	0	A	NM_001129		44147429	+1	tier1	-	no_errors	ENST00000223357	ensembl	human	known	74_37	missense	7.53	86	7	SNP	1.000	G
AEN	64782	genome.wustl.edu	37	15	89169590	89169590	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:89169590G>T	ENST00000332810.3	+	2	301	c.150G>T	c.(148-150)caG>caT	p.Q50H	AEN_ENST00000379231.3_Missense_Mutation_p.Q50H	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	50					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGCAGGAGCAGGGGCTGCTGA	0.622																																																	0													31.0	26.0	28.0					15																	89169590		2200	4299	6499	SO:0001583	missense	0			BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.150G>T	15.37:g.89169590G>T	ENSP00000331944:p.Gln50His		C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.Q50H	ENST00000332810.3	37	c.150	CCDS10344.1	15	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415106	0.62511	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.18960	2.19;2.18	5.02	1.58	0.23477	.	1.515010	0.03918	N	0.283039	T	0.19805	0.0476	L	0.32530	0.975	0.28705	N	0.903846	P;P	0.44877	0.835;0.845	B;B	0.43225	0.412;0.303	T	0.20405	-1.0276	10	0.51188	T	0.08	-21.8246	5.8453	0.18663	0.2457:0.0:0.6102:0.1441	.	50;50	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	H	50	ENSP00000331944:Q50H;ENSP00000368533:Q50H	ENSP00000331944:Q50H	Q	+	3	2	AEN	86970594	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	1.318000	0.33643	0.511000	0.28236	0.563000	0.77884	CAG	AEN	-	NULL	ENSG00000181026		0.622	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEN	HGNC	protein_coding	OTTHUMT00000309071.1		0.00	108	0	G	NM_022767		89169590	+1			no_errors	ENST00000379231	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.992	T
AFAP1	60312	genome.wustl.edu	37	4	7795508	7795508	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:7795508C>T	ENST00000360265.4	-	10	1546	c.1312G>A	c.(1312-1314)Gca>Aca	p.A438T	AFAP1_ENST00000382543.3_Missense_Mutation_p.A438T|AFAP1_ENST00000358461.2_Missense_Mutation_p.A438T|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000420658.1_Missense_Mutation_p.A438T			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	438	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CCCGTCTCTGCGAGTAAAATC	0.453																																																	0													152.0	150.0	151.0					4																	7795508		2203	4300	6503	SO:0001583	missense	0			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1312G>A	4.37:g.7795508C>T	ENSP00000353402:p.Ala438Thr		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A438T	ENST00000360265.4	37	c.1312	CCDS3397.1	4	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519809	0.64634	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.16196	2.43;2.36;2.43;2.36	5.67	4.81	0.61882	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.75447	2.3	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;P	0.97110	1.0;0.836	T	0.45716	-0.9242	10	0.72032	D	0.01	-19.0962	15.8437	0.78871	0.1368:0.8632:0.0:0.0	.	438;438	E9PDT7;Q8N556	.;AFAP1_HUMAN	T	438	ENSP00000353402:A438T;ENSP00000410689:A438T;ENSP00000351245:A438T;ENSP00000371983:A438T	ENSP00000351245:A438T	A	-	1	0	AFAP1	7846408	1.000000	0.71417	0.536000	0.28039	0.017000	0.09413	5.275000	0.65575	1.353000	0.45828	0.557000	0.71058	GCA	AFAP1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000196526		0.453	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	-	0.00	68	0	C	NM_021638		7795508	-1	tier1	-	no_errors	ENST00000420658	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
AFAP1	60312	genome.wustl.edu	37	4	7795508	7795508	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:7795508C>T	ENST00000360265.4	-	10	1546	c.1312G>A	c.(1312-1314)Gca>Aca	p.A438T	AFAP1_ENST00000382543.3_Missense_Mutation_p.A438T|AFAP1_ENST00000358461.2_Missense_Mutation_p.A438T|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000420658.1_Missense_Mutation_p.A438T			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	438	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CCCGTCTCTGCGAGTAAAATC	0.453																																																	0													152.0	150.0	151.0					4																	7795508		2203	4300	6503	SO:0001583	missense	0			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1312G>A	4.37:g.7795508C>T	ENSP00000353402:p.Ala438Thr		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A438T	ENST00000360265.4	37	c.1312	CCDS3397.1	4	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519809	0.64634	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.16196	2.43;2.36;2.43;2.36	5.67	4.81	0.61882	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.75447	2.3	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;P	0.97110	1.0;0.836	T	0.45716	-0.9242	10	0.72032	D	0.01	-19.0962	15.8437	0.78871	0.1368:0.8632:0.0:0.0	.	438;438	E9PDT7;Q8N556	.;AFAP1_HUMAN	T	438	ENSP00000353402:A438T;ENSP00000410689:A438T;ENSP00000351245:A438T;ENSP00000371983:A438T	ENSP00000351245:A438T	A	-	1	0	AFAP1	7846408	1.000000	0.71417	0.536000	0.28039	0.017000	0.09413	5.275000	0.65575	1.353000	0.45828	0.557000	0.71058	GCA	AFAP1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000196526		0.453	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	-	0.00	92	0	C	NM_021638		7795508	-1	tier1	-	no_errors	ENST00000420658	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
AFF4	27125	genome.wustl.edu	37	5	132223538	132223538	+	Splice_Site	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:132223538T>G	ENST00000265343.5	-	16	3312	c.2933A>C	c.(2932-2934)aAa>aCa	p.K978T		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	978					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCACTTACTTGATGAGATC	0.403																																					Ovarian(126;889 1733 2942 10745 11605)												0													129.0	120.0	123.0					5																	132223538		2203	4300	6503	SO:0001630	splice_region_variant	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2933+1A>C	5.37:g.132223538T>G			B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.K978T	ENST00000265343.5	37	c.2933	CCDS4164.1	5	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898003	0.72639	.	.	ENSG00000072364	ENST00000265343	T	0.69561	-0.41	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81650	0.4867	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.82135	-0.0607	9	.	.	.	-15.057	16.3943	0.83563	0.0:0.0:0.0:1.0	.	978	Q9UHB7	AFF4_HUMAN	T	978	ENSP00000265343:K978T	.	K	-	2	0	AFF4	132251437	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.249000	0.72427	2.281000	0.76405	0.533000	0.62120	AAA	AFF4	-	pfam_TF_AF4/FMR2	ENSG00000072364		0.403	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1	-	0.00	12	0	T	NM_014423	Missense_Mutation	132223538	-1	tier1	-	no_errors	ENST00000265343	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	G
AFF4	27125	genome.wustl.edu	37	5	132223538	132223538	+	Splice_Site	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:132223538T>G	ENST00000265343.5	-	16	3312	c.2933A>C	c.(2932-2934)aAa>aCa	p.K978T		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	978					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCACTTACTTGATGAGATC	0.403																																					Ovarian(126;889 1733 2942 10745 11605)												0													129.0	120.0	123.0					5																	132223538		2203	4300	6503	SO:0001630	splice_region_variant	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2933+1A>C	5.37:g.132223538T>G			B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.K978T	ENST00000265343.5	37	c.2933	CCDS4164.1	5	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898003	0.72639	.	.	ENSG00000072364	ENST00000265343	T	0.69561	-0.41	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81650	0.4867	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.82135	-0.0607	9	.	.	.	-15.057	16.3943	0.83563	0.0:0.0:0.0:1.0	.	978	Q9UHB7	AFF4_HUMAN	T	978	ENSP00000265343:K978T	.	K	-	2	0	AFF4	132251437	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.249000	0.72427	2.281000	0.76405	0.533000	0.62120	AAA	AFF4	-	pfam_TF_AF4/FMR2	ENSG00000072364		0.403	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1	-	0.00	23	0	T	NM_014423	Missense_Mutation	132223538	-1	tier1	-	no_errors	ENST00000265343	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	G
AFTPH	54812	genome.wustl.edu	37	2	64796810	64796810	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:64796810A>G	ENST00000422803.1	+	5	2582	c.2268A>G	c.(2266-2268)ggA>ggG	p.G756G	AFTPH_ENST00000238856.4_Silent_p.G756G|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409933.1_Silent_p.G756G|AFTPH_ENST00000409183.1_Silent_p.G387G|AFTPH_ENST00000238855.7_Silent_p.G756G			Q6ULP2	AFTIN_HUMAN	aftiphilin	756					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATGCAGCAGGATTGGTAAGTA	0.348																																																	0													159.0	159.0	159.0					2																	64796810		2203	4300	6503	SO:0001819	synonymous_variant	0			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2268A>G	2.37:g.64796810A>G			D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	NULL	p.G756	ENST00000422803.1	37	c.2268		2																																																																																			AFTPH	-	NULL	ENSG00000119844		0.348	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		-	0.00	51	0	A	NM_017657		64796810	+1	tier1	-	no_errors	ENST00000422803	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	G
AFTPH	54812	genome.wustl.edu	37	2	64796810	64796810	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:64796810A>G	ENST00000422803.1	+	5	2582	c.2268A>G	c.(2266-2268)ggA>ggG	p.G756G	AFTPH_ENST00000238856.4_Silent_p.G756G|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409933.1_Silent_p.G756G|AFTPH_ENST00000409183.1_Silent_p.G387G|AFTPH_ENST00000238855.7_Silent_p.G756G			Q6ULP2	AFTIN_HUMAN	aftiphilin	756					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATGCAGCAGGATTGGTAAGTA	0.348																																																	0													159.0	159.0	159.0					2																	64796810		2203	4300	6503	SO:0001819	synonymous_variant	0			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2268A>G	2.37:g.64796810A>G			D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	NULL	p.G756	ENST00000422803.1	37	c.2268		2																																																																																			AFTPH	-	NULL	ENSG00000119844		0.348	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		-	0.00	57	0	A	NM_017657		64796810	+1	tier1	-	no_errors	ENST00000422803	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	G
AGXT	189	genome.wustl.edu	37	2	241813453	241813453	+	Silent	SNP	G	G	C	rs33958047	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:241813453G>C	ENST00000307503.3	+	6	1041	c.654G>C	c.(652-654)tcG>tcC	p.S218S		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	218			S -> L (in HP1). {ECO:0000269|PubMed:15963748}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CAGGGACCTCGCTCATCTCCT	0.642																																																	0													90.0	80.0	84.0					2																	241813453		2203	4300	6503	SO:0001819	synonymous_variant	0			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.654G>C	2.37:g.241813453G>C			Q53QU6	Silent	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	p.S218	ENST00000307503.3	37	c.654	CCDS2543.1	2																																																																																			AGXT	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	ENSG00000172482		0.642	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT	HGNC	protein_coding	OTTHUMT00000257186.1	-	0.00	12	0	G	NM_000030		241813453	+1	tier1	-	no_errors	ENST00000307503	ensembl	human	known	74_37	silent	20.83	18	5	SNP	0.001	C
AGXT	189	genome.wustl.edu	37	2	241813453	241813453	+	Silent	SNP	G	G	C	rs33958047	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:241813453G>C	ENST00000307503.3	+	6	1041	c.654G>C	c.(652-654)tcG>tcC	p.S218S		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	218			S -> L (in HP1). {ECO:0000269|PubMed:15963748}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CAGGGACCTCGCTCATCTCCT	0.642																																																	0													90.0	80.0	84.0					2																	241813453		2203	4300	6503	SO:0001819	synonymous_variant	0			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.654G>C	2.37:g.241813453G>C			Q53QU6	Silent	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	p.S218	ENST00000307503.3	37	c.654	CCDS2543.1	2																																																																																			AGXT	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	ENSG00000172482		0.642	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT	HGNC	protein_coding	OTTHUMT00000257186.1	-	0.00	18	0	G	NM_000030		241813453	+1	tier1	-	no_errors	ENST00000307503	ensembl	human	known	74_37	silent	20.83	18	5	SNP	0.001	C
AJAP1	55966	genome.wustl.edu	37	1	4772429	4772429	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:4772429T>G	ENST00000378191.4	+	2	880	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V	AJAP1_ENST00000378190.3_Missense_Mutation_p.F167V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	167					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCTCAGCAGCTTCGACTCCAG	0.701																																																	0													9.0	10.0	10.0					1																	4772429		2173	4266	6439	SO:0001583	missense	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.499T>G	1.37:g.4772429T>G	ENSP00000367433:p.Phe167Val		Q9Y229	Missense_Mutation	SNP	NULL	p.F167V	ENST00000378191.4	37	c.499	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209898	0.39003	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.55760	0.5;0.5	5.25	4.1	0.47936	.	0.097290	0.43416	D	0.000570	T	0.39306	0.1073	L	0.29908	0.895	0.34881	D	0.744569	B	0.20550	0.046	B	0.20955	0.032	T	0.45659	-0.9246	10	0.54805	T	0.06	-13.8258	9.1405	0.36901	0.0:0.0:0.1846:0.8154	.	167	Q9UKB5	AJAP1_HUMAN	V	167	ENSP00000367432:F167V;ENSP00000367433:F167V	ENSP00000367432:F167V	F	+	1	0	AJAP1	4672289	0.532000	0.26346	0.342000	0.25602	0.030000	0.12068	2.227000	0.42972	0.803000	0.34113	-0.644000	0.03951	TTC	AJAP1	-	NULL	ENSG00000196581		0.701	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	-	0.00	83	0	T	NM_018836		4772429	+1	tier1	-	no_errors	ENST00000378190	ensembl	human	known	74_37	missense	22.37	59	17	SNP	0.613	G
AJAP1	55966	genome.wustl.edu	37	1	4772429	4772429	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:4772429T>G	ENST00000378191.4	+	2	880	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V	AJAP1_ENST00000378190.3_Missense_Mutation_p.F167V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	167					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCTCAGCAGCTTCGACTCCAG	0.701																																																	0													9.0	10.0	10.0					1																	4772429		2173	4266	6439	SO:0001583	missense	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.499T>G	1.37:g.4772429T>G	ENSP00000367433:p.Phe167Val		Q9Y229	Missense_Mutation	SNP	NULL	p.F167V	ENST00000378191.4	37	c.499	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209898	0.39003	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.55760	0.5;0.5	5.25	4.1	0.47936	.	0.097290	0.43416	D	0.000570	T	0.39306	0.1073	L	0.29908	0.895	0.34881	D	0.744569	B	0.20550	0.046	B	0.20955	0.032	T	0.45659	-0.9246	10	0.54805	T	0.06	-13.8258	9.1405	0.36901	0.0:0.0:0.1846:0.8154	.	167	Q9UKB5	AJAP1_HUMAN	V	167	ENSP00000367432:F167V;ENSP00000367433:F167V	ENSP00000367432:F167V	F	+	1	0	AJAP1	4672289	0.532000	0.26346	0.342000	0.25602	0.030000	0.12068	2.227000	0.42972	0.803000	0.34113	-0.644000	0.03951	TTC	AJAP1	-	NULL	ENSG00000196581		0.701	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	-	0.00	90	0	T	NM_018836		4772429	+1	tier1	-	no_errors	ENST00000378190	ensembl	human	known	74_37	missense	22.37	59	17	SNP	0.613	G
AKAP3	10566	genome.wustl.edu	37	12	4736863	4736863	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:4736863T>G	ENST00000545990.2	-	5	1729	c.1205A>C	c.(1204-1206)gAg>gCg	p.E402A	AKAP3_ENST00000228850.1_Missense_Mutation_p.E402A|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	402				E -> V (in Ref. 2; AAC35854). {ECO:0000305}.	acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGAATAACTCTCAGCCTTGTC	0.408																																																	0													157.0	154.0	155.0					12																	4736863		2203	4300	6503	SO:0001583	missense	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1205A>C	12.37:g.4736863T>G	ENSP00000440994:p.Glu402Ala		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.E402A	ENST00000545990.2	37	c.1205	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048838	0.36181	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08720	3.06;3.06	5.43	5.43	0.79202	A-kinase anchor 110kDa, C-terminal (1);	0.084489	0.51477	D	0.000085	T	0.23727	0.0574	M	0.68317	2.08	0.36852	D	0.887953	D	0.59767	0.986	P	0.61800	0.894	T	0.05533	-1.0879	10	0.62326	D	0.03	-38.6823	13.2964	0.60298	0.0:0.0:0.0:1.0	.	402	O75969	AKAP3_HUMAN	A	402	ENSP00000228850:E402A;ENSP00000440994:E402A	ENSP00000228850:E402A	E	-	2	0	AKAP3	4607124	1.000000	0.71417	0.978000	0.43139	0.129000	0.20672	2.573000	0.46007	2.198000	0.70561	0.533000	0.62120	GAG	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.408	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	-	0.00	20	0	T	NM_006422		4736863	-1	tier1	-	no_errors	ENST00000228850	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.889	G
AKAP9	10142	genome.wustl.edu	37	7	91652182	91652183	+	Missense_Mutation	DNP	TT	TT	AA	rs74746725		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:91652182_91652183TT>AA	ENST00000359028.2	+	15	4268_4269	c.4043_4044TT>AA	c.(4042-4044)cTT>cAA	p.L1348Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.L1336Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.L1348Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1348					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAACTAAACTTGAAGAACAAG	0.317			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0																																										SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	Exception_encountered	7.37:g.91652182_91652183delinsAA	ENSP00000351922:p.Leu1348Gln		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation|Silent	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.L1348H|p.L1348	ENST00000359028.2	37	c.4043|c.4044		7																																																																																			AKAP9	-	NULL	ENSG00000127914		0.317	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding			0.00	81|82	0	T	NM_005751		91652182|91652183	+1			no_errors	ENST00000359028	ensembl	human	known	74_37	missense|silent	5.92|5.11	476|482	30|26	SNP	0.976|0.984	A
AKNA	80709	genome.wustl.edu	37	9	117104335	117104335	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:117104335T>A	ENST00000307564.4	-	20	3989	c.3828A>T	c.(3826-3828)caA>caT	p.Q1276H	AKNA_ENST00000374088.3_Missense_Mutation_p.Q1276H|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.Q736H|AKNA_ENST00000374079.4_Missense_Mutation_p.Q221H|AKNA_ENST00000374075.5_Missense_Mutation_p.Q1195H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1276					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GAGACCCAACTTGACCACACA	0.582																																																	0													75.0	72.0	73.0					9																	117104335		2203	4300	6503	SO:0001583	missense	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3828A>T	9.37:g.117104335T>A	ENSP00000303769:p.Gln1276His		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.Q1276H	ENST00000307564.4	37	c.3828	CCDS6805.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.01|12.01	1.810130|1.810130	0.32053|0.32053	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000320310|ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	.|T;T;T;T;T	.|0.18960	.|2.65;2.18;2.65;2.43;2.65	4.95|4.95	-3.7|-3.7	0.04437|0.04437	.|.	.|2.361950	.|0.01411	.|N	.|0.014007	T|T	0.14743|0.14743	0.0356|0.0356	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.23154|0.23154	-1.0196|-1.0196	6|10	0.62326|0.44086	D|T	0.03|0.13	1.0381|1.0381	1.9853|1.9853	0.03435|0.03435	0.1531:0.3907:0.1572:0.299|0.1531:0.3907:0.1572:0.299	.|.	.|1276;1195	.|Q7Z591;Q7Z591-2	.|AKNA_HUMAN;.	M|H	287|1276;221;1276;736;1195	.|ENSP00000303769:Q1276H;ENSP00000363192:Q221H;ENSP00000363201:Q1276H;ENSP00000223791:Q736H;ENSP00000363188:Q1195H	ENSP00000314538:K287M|ENSP00000223791:Q736H	K|Q	-|-	2|3	0|2	AKNA|AKNA	116144156|116144156	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.093000|0.093000	0.18481|0.18481	-0.063000|-0.063000	0.11655|0.11655	-0.400000|-0.400000	0.07656|0.07656	-0.371000|-0.371000	0.07208|0.07208	AAG|CAA	AKNA	-	NULL	ENSG00000106948		0.582	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2		0.00	67	0	T	NM_030767		117104335	-1			no_errors	ENST00000307564	ensembl	human	known	74_37	missense	13.16	33	5	SNP	0.000	A
AKR1C4	1109	genome.wustl.edu	37	10	5255027	5255027	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:5255027A>C	ENST00000380448.1	+	9	1004	c.751A>C	c.(751-753)Acc>Ccc	p.T251P	AKR1C4_ENST00000263126.1_Missense_Mutation_p.T251P			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	251					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						ACACAAACAAACCCCAGCCCT	0.537																																																	0													69.0	65.0	66.0					10																	5255027		2203	4300	6503	SO:0001583	missense	0			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.751A>C	10.37:g.5255027A>C	ENSP00000369814:p.Thr251Pro		Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.T251P	ENST00000380448.1	37	c.751	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	A	8.306	0.820910	0.16678	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.56776	0.44;0.44	3.3	0.665	0.17896	NADP-dependent oxidoreductase domain (3);	0.279277	0.29321	N	0.012487	T	0.66655	0.2811	M	0.68593	2.085	0.24433	N	0.994562	P	0.36683	0.565	P	0.61201	0.885	T	0.63576	-0.6606	10	0.87932	D	0	.	8.2893	0.31948	0.6959:0.0:0.0:0.3041	.	251	P17516	AK1C4_HUMAN	P	251	ENSP00000369814:T251P;ENSP00000263126:T251P	ENSP00000263126:T251P	T	+	1	0	AKR1C4	5245027	0.001000	0.12720	0.009000	0.14445	0.027000	0.11550	1.671000	0.37513	-0.761000	0.04670	-2.559000	0.00174	ACC	AKR1C4	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000198610		0.537	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	HGNC	protein_coding	OTTHUMT00000046543.2	-	0.00	92	0	A	NM_001818		5255027	+1	tier1	-	no_errors	ENST00000263126	ensembl	human	known	74_37	missense	7.35	63	5	SNP	0.465	C
ALPK3	57538	genome.wustl.edu	37	15	85400659	85400659	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:85400659T>C	ENST00000258888.5	+	6	3463	c.3296T>C	c.(3295-3297)tTc>tCc	p.F1099S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1099					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAGCCACCTTCCTGCCCTCT	0.627																																																	0													52.0	43.0	46.0					15																	85400659		2203	4299	6502	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3296T>C	15.37:g.85400659T>C	ENSP00000258888:p.Phe1099Ser		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.F1099S	ENST00000258888.5	37	c.3296	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624714	0.28889	.	.	ENSG00000136383	ENST00000258888	T	0.61510	0.1	4.18	-3.04	0.05412	.	1.536580	0.03721	N	0.251862	T	0.40347	0.1113	L	0.32530	0.975	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.08186	-1.0734	10	0.23302	T	0.38	0.128	2.9995	0.06009	0.3448:0.3375:0.0:0.3176	.	1099	Q96L96	ALPK3_HUMAN	S	1099	ENSP00000258888:F1099S	ENSP00000258888:F1099S	F	+	2	0	ALPK3	83201663	0.000000	0.05858	0.000000	0.03702	0.716000	0.41182	-0.125000	0.10579	-0.393000	0.07739	0.460000	0.39030	TTC	ALPK3	-	NULL	ENSG00000136383		0.627	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0.00	47	0	T	NM_020778		85400659	+1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.000	C
ALPK3	57538	genome.wustl.edu	37	15	85400659	85400659	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:85400659T>C	ENST00000258888.5	+	6	3463	c.3296T>C	c.(3295-3297)tTc>tCc	p.F1099S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1099					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAGCCACCTTCCTGCCCTCT	0.627																																																	0													52.0	43.0	46.0					15																	85400659		2203	4299	6502	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3296T>C	15.37:g.85400659T>C	ENSP00000258888:p.Phe1099Ser		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.F1099S	ENST00000258888.5	37	c.3296	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624714	0.28889	.	.	ENSG00000136383	ENST00000258888	T	0.61510	0.1	4.18	-3.04	0.05412	.	1.536580	0.03721	N	0.251862	T	0.40347	0.1113	L	0.32530	0.975	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.08186	-1.0734	10	0.23302	T	0.38	0.128	2.9995	0.06009	0.3448:0.3375:0.0:0.3176	.	1099	Q96L96	ALPK3_HUMAN	S	1099	ENSP00000258888:F1099S	ENSP00000258888:F1099S	F	+	2	0	ALPK3	83201663	0.000000	0.05858	0.000000	0.03702	0.716000	0.41182	-0.125000	0.10579	-0.393000	0.07739	0.460000	0.39030	TTC	ALPK3	-	NULL	ENSG00000136383		0.627	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0.00	79	0	T	NM_020778		85400659	+1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.000	C
AMELX	265	genome.wustl.edu	37	X	11316830	11316830	+	Missense_Mutation	SNP	G	G	A	rs367556910		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:11316830G>A	ENST00000380714.3	+	5	375	c.307G>A	c.(307-309)Gtt>Att	p.V103I	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.V87I|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.V117I|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	103					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						AATGATGCCCGTTCCTGGCCA	0.642																																																	0								G	,,ILE/VAL,ILE/VAL,ILE/VAL	0,3835		0,0,0,1632,571	156.0	128.0	138.0		,,259,349,307	0.3	1.0	X		138	1,6727		0,0,1,2428,1871	no	intron,intron,missense,missense,missense	AMELX,ARHGAP6	NM_006125.2,NM_013427.2,NM_182681.1,NM_182680.1,NM_001142.2	,,29,29,29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,,benign,benign,benign	,,87/176,117/206,103/192	11316830	1,10562	2203	4300	6503	SO:0001583	missense	0				CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.307G>A	X.37:g.11316830G>A	ENSP00000370090:p.Val103Ile		Q96NW6|Q9UCA7	Missense_Mutation	SNP	pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin	p.V117I	ENST00000380714.3	37	c.349	CCDS14144.1	X	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859331	0.32884	0.0	1.49E-4	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.88741	-2.42;-2.42;-2.42	5.17	0.259	0.15583	.	0.795910	0.10943	N	0.617015	T	0.81959	0.4933	L	0.48362	1.52	0.27792	N	0.942794	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.08055	0.003;0.002;0.003	T	0.66248	-0.5971	10	0.30078	T	0.28	1.0509	5.0375	0.14441	0.3121:0.2658:0.4221:0.0	.	87;103;117	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	I	103;117;87	ENSP00000370090:V103I;ENSP00000370088:V117I;ENSP00000335312:V87I	ENSP00000335312:V87I	V	+	1	0	AMELX	11226751	0.831000	0.29352	0.981000	0.43875	0.975000	0.68041	-0.157000	0.10085	-0.137000	0.11455	0.415000	0.27848	GTT	AMELX	-	pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin	ENSG00000125363		0.642	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMELX	HGNC	protein_coding	OTTHUMT00000055746.1	-	0.00	26	0	G	NM_001142		11316830	+1	tier1	-	no_errors	ENST00000380712	ensembl	human	known	74_37	missense	72.50	11	29	SNP	0.842	A
AMELX	265	genome.wustl.edu	37	X	11316830	11316830	+	Missense_Mutation	SNP	G	G	A	rs367556910		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:11316830G>A	ENST00000380714.3	+	5	375	c.307G>A	c.(307-309)Gtt>Att	p.V103I	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.V87I|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.V117I|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	103					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						AATGATGCCCGTTCCTGGCCA	0.642																																																	0								G	,,ILE/VAL,ILE/VAL,ILE/VAL	0,3835		0,0,0,1632,571	156.0	128.0	138.0		,,259,349,307	0.3	1.0	X		138	1,6727		0,0,1,2428,1871	no	intron,intron,missense,missense,missense	AMELX,ARHGAP6	NM_006125.2,NM_013427.2,NM_182681.1,NM_182680.1,NM_001142.2	,,29,29,29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,,benign,benign,benign	,,87/176,117/206,103/192	11316830	1,10562	2203	4300	6503	SO:0001583	missense	0				CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.307G>A	X.37:g.11316830G>A	ENSP00000370090:p.Val103Ile		Q96NW6|Q9UCA7	Missense_Mutation	SNP	pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin	p.V117I	ENST00000380714.3	37	c.349	CCDS14144.1	X	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859331	0.32884	0.0	1.49E-4	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.88741	-2.42;-2.42;-2.42	5.17	0.259	0.15583	.	0.795910	0.10943	N	0.617015	T	0.81959	0.4933	L	0.48362	1.52	0.27792	N	0.942794	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.08055	0.003;0.002;0.003	T	0.66248	-0.5971	10	0.30078	T	0.28	1.0509	5.0375	0.14441	0.3121:0.2658:0.4221:0.0	.	87;103;117	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	I	103;117;87	ENSP00000370090:V103I;ENSP00000370088:V117I;ENSP00000335312:V87I	ENSP00000335312:V87I	V	+	1	0	AMELX	11226751	0.831000	0.29352	0.981000	0.43875	0.975000	0.68041	-0.157000	0.10085	-0.137000	0.11455	0.415000	0.27848	GTT	AMELX	-	pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin	ENSG00000125363		0.642	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMELX	HGNC	protein_coding	OTTHUMT00000055746.1	-	0.00	39	0	G	NM_001142		11316830	+1	tier1	-	no_errors	ENST00000380712	ensembl	human	known	74_37	missense	72.50	11	29	SNP	0.842	A
ANK3	288	genome.wustl.edu	37	10	61830372	61830372	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:61830372C>T	ENST00000280772.2	-	37	10458	c.10267G>A	c.(10267-10269)Gaa>Aaa	p.E3423K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3423					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCATCATCTTCATCTTGCAGG	0.468																																																	0													109.0	101.0	104.0					10																	61830372		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10267G>A	10.37:g.61830372C>T	ENSP00000280772:p.Glu3423Lys		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.E3423K	ENST00000280772.2	37	c.10267	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612651	0.87258	.	.	ENSG00000151150	ENST00000280772	T	0.75154	-0.91	5.48	5.48	0.80851	.	0.000000	0.43110	D	0.000612	D	0.83133	0.5188	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.80935	-0.1160	10	0.35671	T	0.21	.	19.359	0.94428	0.0:1.0:0.0:0.0	.	3423	Q12955	ANK3_HUMAN	K	3423	ENSP00000280772:E3423K	ENSP00000280772:E3423K	E	-	1	0	ANK3	61500378	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.089000	0.71384	2.584000	0.87258	0.561000	0.74099	GAA	ANK3	-	NULL	ENSG00000151150		0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0.00	37	0	C	NM_020987		61830372	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T
ANKRD18B	441459	genome.wustl.edu	37	9	33566351	33566351	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:33566351T>G	ENST00000290943.6	+	13	2505	c.2409T>G	c.(2407-2409)gaT>gaG	p.D803E		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	803										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						TTGAGAAGGATAAAAAGATGT	0.318																																																	0																																										SO:0001583	missense	0					9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.2409T>G	9.37:g.33566351T>G	ENSP00000290943:p.Asp803Glu			Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D803E	ENST00000290943.6	37	c.2409		9	.	.	.	.	.	.	.	.	.	.	t	12.03	1.816837	0.32145	.	.	ENSG00000230453	ENST00000290943;ENST00000357927	T;T	0.25749	1.78;3.24	1.64	0.357	0.16079	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.20196	N	0.999924	.	.	.	.	.	.	T	0.29088	-1.0023	5	0.30078	T	0.28	.	4.3611	0.11203	0.0:0.0:0.3565:0.6435	.	.	.	.	E	803;184	ENSP00000290943:D803E;ENSP00000350607:D184E	ENSP00000290943:D803E	D	+	3	2	ANKRD18B	33556351	0.991000	0.36638	0.537000	0.28052	0.062000	0.15995	0.108000	0.15396	0.076000	0.16826	0.377000	0.23210	GAT	ANKRD18B	-	NULL	ENSG00000230453		0.318	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	HGNC	protein_coding	OTTHUMT00000313729.2	-	0.00	118	0	T	XM_001718334		33566351	+1	tier1	-	no_errors	ENST00000290943	ensembl	human	known	74_37	missense	26.67	109	40	SNP	0.615	G
ANKRD18B	441459	genome.wustl.edu	37	9	33566351	33566351	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:33566351T>G	ENST00000290943.6	+	13	2505	c.2409T>G	c.(2407-2409)gaT>gaG	p.D803E		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	803										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						TTGAGAAGGATAAAAAGATGT	0.318																																																	0																																										SO:0001583	missense	0					9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.2409T>G	9.37:g.33566351T>G	ENSP00000290943:p.Asp803Glu			Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D803E	ENST00000290943.6	37	c.2409		9	.	.	.	.	.	.	.	.	.	.	t	12.03	1.816837	0.32145	.	.	ENSG00000230453	ENST00000290943;ENST00000357927	T;T	0.25749	1.78;3.24	1.64	0.357	0.16079	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.20196	N	0.999924	.	.	.	.	.	.	T	0.29088	-1.0023	5	0.30078	T	0.28	.	4.3611	0.11203	0.0:0.0:0.3565:0.6435	.	.	.	.	E	803;184	ENSP00000290943:D803E;ENSP00000350607:D184E	ENSP00000290943:D803E	D	+	3	2	ANKRD18B	33556351	0.991000	0.36638	0.537000	0.28052	0.062000	0.15995	0.108000	0.15396	0.076000	0.16826	0.377000	0.23210	GAT	ANKRD18B	-	NULL	ENSG00000230453		0.318	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	HGNC	protein_coding	OTTHUMT00000313729.2	-	0.00	228	0	T	XM_001718334		33566351	+1	tier1	-	no_errors	ENST00000290943	ensembl	human	known	74_37	missense	26.67	109	40	SNP	0.615	G
ANKRD19P	138649	genome.wustl.edu	37	9	95599088	95599089	+	RNA	DEL	CA	CA	-	rs544950203|rs372688534	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:95599088_95599089delCA	ENST00000473204.1	+	0	1169_1170							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											TTCACGGGCGCACACACACACA	0.421																																																	0																																												0			BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599098_95599099delCA			A8K853|Q17RD3	RNA	DEL	-	NULL	ENST00000473204.1	37	NULL		9																																																																																			ANKRD19P	-	-	ENSG00000187984		0.421	ANKRD19P-004	KNOWN	basic	processed_transcript	ANKRD19P	HGNC	pseudogene	OTTHUMT00000053116.3		0.00	66	0	CA	NR_026868		95599089	+1	tier1		no_errors	ENST00000464387	ensembl	human	known	74_37	rna	8.51	43	4	DEL	0.575:0.723	-
ANKRD2	26287	genome.wustl.edu	37	10	99341131	99341131	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:99341131T>A	ENST00000307518.5	+	6	962	c.695T>A	c.(694-696)cTt>cAt	p.L232H	ANKRD2_ENST00000298808.5_Missense_Mutation_p.L232H|HOGA1_ENST00000370647.4_5'Flank|PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000455090.1_Missense_Mutation_p.L205H|HOGA1_ENST00000370646.4_5'Flank|PI4K2A_ENST00000370649.3_5'Flank|ANKRD2_ENST00000370655.1_Missense_Mutation_p.L205H			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	232					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GTGGTGAAACTTCTGCAAAGC	0.542																																																	0													63.0	63.0	63.0					10																	99341131		2203	4300	6503	SO:0001583	missense	0			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.695T>A	10.37:g.99341131T>A	ENSP00000306163:p.Leu232His		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L232H	ENST00000307518.5	37	c.695	CCDS7466.1	10	.	.	.	.	.	.	.	.	.	.	T	13.67	2.305417	0.40795	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.41	5.41	0.78517	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000008	D	0.84133	0.5405	M	0.80183	2.485	0.38641	D	0.951614	D;D	0.89917	0.999;1.0	D;D	0.85130	0.951;0.997	D	0.86868	0.2034	10	0.52906	T	0.07	-18.5913	14.4334	0.67266	0.0:0.0:0.0:1.0	.	232;232	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	H	232;232;205;205	ENSP00000306163:L232H;ENSP00000298808:L232H;ENSP00000359689:L205H;ENSP00000403114:L205H	ENSP00000298808:L232H	L	+	2	0	ANKRD2	99331121	0.979000	0.34478	0.994000	0.49952	0.009000	0.06853	2.935000	0.48963	2.043000	0.60533	0.528000	0.53228	CTT	ANKRD2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000165887		0.542	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD2	HGNC	protein_coding		-	0.00	43	0	T			99341131	+1	tier1	-	no_errors	ENST00000307518	ensembl	human	known	74_37	missense	25.58	32	11	SNP	0.995	A
ANKRD2	26287	genome.wustl.edu	37	10	99341131	99341131	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:99341131T>A	ENST00000307518.5	+	6	962	c.695T>A	c.(694-696)cTt>cAt	p.L232H	ANKRD2_ENST00000298808.5_Missense_Mutation_p.L232H|HOGA1_ENST00000370647.4_5'Flank|PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000455090.1_Missense_Mutation_p.L205H|HOGA1_ENST00000370646.4_5'Flank|PI4K2A_ENST00000370649.3_5'Flank|ANKRD2_ENST00000370655.1_Missense_Mutation_p.L205H			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	232					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GTGGTGAAACTTCTGCAAAGC	0.542																																																	0													63.0	63.0	63.0					10																	99341131		2203	4300	6503	SO:0001583	missense	0			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.695T>A	10.37:g.99341131T>A	ENSP00000306163:p.Leu232His		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L232H	ENST00000307518.5	37	c.695	CCDS7466.1	10	.	.	.	.	.	.	.	.	.	.	T	13.67	2.305417	0.40795	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.41	5.41	0.78517	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000008	D	0.84133	0.5405	M	0.80183	2.485	0.38641	D	0.951614	D;D	0.89917	0.999;1.0	D;D	0.85130	0.951;0.997	D	0.86868	0.2034	10	0.52906	T	0.07	-18.5913	14.4334	0.67266	0.0:0.0:0.0:1.0	.	232;232	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	H	232;232;205;205	ENSP00000306163:L232H;ENSP00000298808:L232H;ENSP00000359689:L205H;ENSP00000403114:L205H	ENSP00000298808:L232H	L	+	2	0	ANKRD2	99331121	0.979000	0.34478	0.994000	0.49952	0.009000	0.06853	2.935000	0.48963	2.043000	0.60533	0.528000	0.53228	CTT	ANKRD2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000165887		0.542	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD2	HGNC	protein_coding		-	0.00	56	0	T			99341131	+1	tier1	-	no_errors	ENST00000307518	ensembl	human	known	74_37	missense	25.58	32	11	SNP	0.995	A
ANKRD30B	374860	genome.wustl.edu	37	18	14760618	14760618	+	Splice_Site	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:14760618G>T	ENST00000358984.4	+	6	1000		c.e6+1		ANKRD30B_ENST00000579292.1_Intron|RNU6-1210P_ENST00000363775.1_RNA|ANKRD30B_ENST00000447268.2_Splice_Site	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B											breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCAATCCAGGTAAGACTTCG	0.308																																																	0													74.0	58.0	63.0					18																	14760618		692	1590	2282	SO:0001630	splice_region_variant	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.820+1G>T	18.37:g.14760618G>T			B4DGP1|F8WAG3|Q4G175	Splice_Site	SNP	-	e6+1	ENST00000358984.4	37	c.820+1	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	G	5.424	0.263293	0.10294	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	.	.	.	1.65	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.29982	N	0.817606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7399	0.23431	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD30B	14750618	0.999000	0.42202	0.170000	0.22879	0.023000	0.10783	2.604000	0.46274	1.228000	0.43614	0.306000	0.20318	.	ANKRD30B	-	-	ENSG00000180777		0.308	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0.00	81	0	G	NM_001145029	Intron	14760618	+1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	splice_site	6.67	56	4	SNP	0.205	T
ANKRD33B	651746	genome.wustl.edu	37	5	10564869	10564869	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:10564869A>C	ENST00000296657.5	+	1	290	c.290A>C	c.(289-291)aAc>aCc	p.N97T		NM_001164440.1	NP_001157912.1	A6NCL7	AN33B_HUMAN	ankyrin repeat domain 33B	97																	TGCGCCAACAACGTGGGGCTG	0.736																																																	0													6.0	6.0	6.0					5																	10564869		677	1564	2241	SO:0001583	missense	0				CCDS47191.1	5p15.2	2013-01-10			ENSG00000164236	ENSG00000164236		"""Ankyrin repeat domain containing"""	35240	protein-coding gene	gene with protein product							Standard	NM_001164440		Approved		uc021xwp.1	A6NCL7	OTTHUMG00000162050	ENST00000296657.5:c.290A>C	5.37:g.10564869A>C	ENSP00000296657:p.Asn97Thr			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.N97T	ENST00000296657.5	37	c.290	CCDS47191.1	5	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660544	0.67586	.	.	ENSG00000164236	ENST00000296657	T	0.67865	-0.29	3.6	3.6	0.41247	.	0.140077	0.44097	U	0.000495	T	0.75532	0.3862	M	0.79475	2.455	0.34836	D	0.740142	.	.	.	.	.	.	D	0.83467	0.0057	8	0.56958	D	0.05	-7.7749	10.9373	0.47253	1.0:0.0:0.0:0.0	.	.	.	.	T	97	ENSP00000296657:N97T	ENSP00000296657:N97T	N	+	2	0	ANKRD33B	10617869	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.515000	0.67049	1.496000	0.48567	0.459000	0.35465	AAC	ANKRD33B	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000164236		0.736	ANKRD33B-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf|CCDS	protein_coding	ANKRD33B	HGNC	protein_coding	OTTHUMT00000367037.3	-	0.00	33	0	A	XM_001130634		10564869	+1	tier1	-	no_errors	ENST00000504806	ensembl	human	known	74_37	missense	30.77	9	4	SNP	1.000	C
ANKRD33B	651746	genome.wustl.edu	37	5	10564869	10564869	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:10564869A>C	ENST00000296657.5	+	1	290	c.290A>C	c.(289-291)aAc>aCc	p.N97T		NM_001164440.1	NP_001157912.1	A6NCL7	AN33B_HUMAN	ankyrin repeat domain 33B	97																	TGCGCCAACAACGTGGGGCTG	0.736																																																	0													6.0	6.0	6.0					5																	10564869		677	1564	2241	SO:0001583	missense	0				CCDS47191.1	5p15.2	2013-01-10			ENSG00000164236	ENSG00000164236		"""Ankyrin repeat domain containing"""	35240	protein-coding gene	gene with protein product							Standard	NM_001164440		Approved		uc021xwp.1	A6NCL7	OTTHUMG00000162050	ENST00000296657.5:c.290A>C	5.37:g.10564869A>C	ENSP00000296657:p.Asn97Thr			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.N97T	ENST00000296657.5	37	c.290	CCDS47191.1	5	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660544	0.67586	.	.	ENSG00000164236	ENST00000296657	T	0.67865	-0.29	3.6	3.6	0.41247	.	0.140077	0.44097	U	0.000495	T	0.75532	0.3862	M	0.79475	2.455	0.34836	D	0.740142	.	.	.	.	.	.	D	0.83467	0.0057	8	0.56958	D	0.05	-7.7749	10.9373	0.47253	1.0:0.0:0.0:0.0	.	.	.	.	T	97	ENSP00000296657:N97T	ENSP00000296657:N97T	N	+	2	0	ANKRD33B	10617869	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.515000	0.67049	1.496000	0.48567	0.459000	0.35465	AAC	ANKRD33B	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000164236		0.736	ANKRD33B-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf|CCDS	protein_coding	ANKRD33B	HGNC	protein_coding	OTTHUMT00000367037.3	-	0.00	41	0	A	XM_001130634		10564869	+1	tier1	-	no_errors	ENST00000504806	ensembl	human	known	74_37	missense	30.77	9	4	SNP	1.000	C
ANLN	54443	genome.wustl.edu	37	7	36455377	36455377	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:36455377G>A	ENST00000265748.2	+	8	1627	c.1406G>A	c.(1405-1407)tGt>tAt	p.C469Y	ANLN_ENST00000495714.1_Intron|ANLN_ENST00000396068.2_Missense_Mutation_p.C469Y	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	469	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GAAACTCACTGTCAGAGCACT	0.318																																																	0													107.0	114.0	112.0					7																	36455377		2203	4300	6503	SO:0001583	missense	0			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1406G>A	7.37:g.36455377G>A	ENSP00000265748:p.Cys469Tyr		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.C469Y	ENST00000265748.2	37	c.1406	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	G	6.973	0.549437	0.13374	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.12039	2.74;2.72	4.52	-0.772	0.10998	.	0.385642	0.29009	N	0.013424	T	0.13157	0.0319	M	0.71581	2.175	0.22827	N	0.998686	P;P;P;P	0.43633	0.802;0.716;0.813;0.716	B;B;B;B	0.39299	0.26;0.155;0.296;0.155	T	0.12041	-1.0563	10	0.56958	D	0.05	-0.0011	5.9068	0.19006	0.1918:0.4847:0.3234:0.0	.	346;469;469;469	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	Y	469	ENSP00000265748:C469Y;ENSP00000379380:C469Y	ENSP00000265748:C469Y	C	+	2	0	ANLN	36421902	0.801000	0.28930	0.119000	0.21687	0.217000	0.24651	0.471000	0.22100	-0.048000	0.13401	0.591000	0.81541	TGT	ANLN	-	NULL	ENSG00000011426		0.318	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	-	0.00	103	0	G	NM_018685		36455377	+1	tier1	-	no_errors	ENST00000265748	ensembl	human	known	74_37	missense	25.88	62	22	SNP	0.068	A
ANLN	54443	genome.wustl.edu	37	7	36455377	36455377	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:36455377G>A	ENST00000265748.2	+	8	1627	c.1406G>A	c.(1405-1407)tGt>tAt	p.C469Y	ANLN_ENST00000495714.1_Intron|ANLN_ENST00000396068.2_Missense_Mutation_p.C469Y	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	469	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GAAACTCACTGTCAGAGCACT	0.318																																																	0													107.0	114.0	112.0					7																	36455377		2203	4300	6503	SO:0001583	missense	0			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1406G>A	7.37:g.36455377G>A	ENSP00000265748:p.Cys469Tyr		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.C469Y	ENST00000265748.2	37	c.1406	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	G	6.973	0.549437	0.13374	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.12039	2.74;2.72	4.52	-0.772	0.10998	.	0.385642	0.29009	N	0.013424	T	0.13157	0.0319	M	0.71581	2.175	0.22827	N	0.998686	P;P;P;P	0.43633	0.802;0.716;0.813;0.716	B;B;B;B	0.39299	0.26;0.155;0.296;0.155	T	0.12041	-1.0563	10	0.56958	D	0.05	-0.0011	5.9068	0.19006	0.1918:0.4847:0.3234:0.0	.	346;469;469;469	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	Y	469	ENSP00000265748:C469Y;ENSP00000379380:C469Y	ENSP00000265748:C469Y	C	+	2	0	ANLN	36421902	0.801000	0.28930	0.119000	0.21687	0.217000	0.24651	0.471000	0.22100	-0.048000	0.13401	0.591000	0.81541	TGT	ANLN	-	NULL	ENSG00000011426		0.318	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	-	0.00	79	0	G	NM_018685		36455377	+1	tier1	-	no_errors	ENST00000265748	ensembl	human	known	74_37	missense	25.88	62	22	SNP	0.068	A
ANO5	203859	genome.wustl.edu	37	11	22301155	22301155	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:22301155G>T	ENST00000324559.8	+	22	2903	c.2586G>T	c.(2584-2586)gtG>gtT	p.V862V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	862					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGATGTTGTGGAGAGAATCA	0.328																																																	0													106.0	105.0	105.0					11																	22301155		2203	4299	6502	SO:0001819	synonymous_variant	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2586G>T	11.37:g.22301155G>T				Silent	SNP	pfam_Anoctamin	p.V862	ENST00000324559.8	37	c.2586	CCDS31444.1	11																																																																																			ANO5	-	pfam_Anoctamin	ENSG00000171714		0.328	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	-	0.00	60	0	G	NM_213599		22301155	+1	tier1	-	no_errors	ENST00000324559	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.827	T
ANO5	203859	genome.wustl.edu	37	11	22301155	22301155	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:22301155G>T	ENST00000324559.8	+	22	2903	c.2586G>T	c.(2584-2586)gtG>gtT	p.V862V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	862					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGATGTTGTGGAGAGAATCA	0.328																																																	0													106.0	105.0	105.0					11																	22301155		2203	4299	6502	SO:0001819	synonymous_variant	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2586G>T	11.37:g.22301155G>T				Silent	SNP	pfam_Anoctamin	p.V862	ENST00000324559.8	37	c.2586	CCDS31444.1	11																																																																																			ANO5	-	pfam_Anoctamin	ENSG00000171714		0.328	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	-	0.00	80	0	G	NM_213599		22301155	+1	tier1	-	no_errors	ENST00000324559	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.827	T
ANO7	50636	genome.wustl.edu	37	2	242149948	242149948	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:242149948G>T	ENST00000274979.8	+	15	1789	c.1686G>T	c.(1684-1686)aaG>aaT	p.K562N	ANO7_ENST00000402430.3_Missense_Mutation_p.K561N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	562					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCCTCTCCAAGATCTATGTAT	0.647																																																	0													109.0	92.0	98.0					2																	242149948		2203	4300	6503	SO:0001583	missense	0			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1686G>T	2.37:g.242149948G>T	ENSP00000274979:p.Lys562Asn		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.K562N	ENST00000274979.8	37	c.1686	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	G	7.702	0.693266	0.15039	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.64260	-0.09;-0.09	3.12	1.81	0.25067	.	1.163790	0.06701	U	0.771445	T	0.60457	0.2270	L	0.52823	1.66	0.09310	N	1	P	0.40553	0.721	P	0.45913	0.497	T	0.51236	-0.8731	10	0.27082	T	0.32	.	5.4086	0.16336	0.3203:0.0:0.6797:0.0	.	562	Q6IWH7	ANO7_HUMAN	N	562;561	ENSP00000274979:K562N;ENSP00000385418:K561N	ENSP00000274979:K562N	K	+	3	2	ANO7	241798621	0.003000	0.15002	0.029000	0.17559	0.299000	0.27559	0.312000	0.19397	1.453000	0.47775	0.313000	0.20887	AAG	ANO7	-	pfam_Anoctamin	ENSG00000146205		0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	-	0.00	36	0	G	NM_001001891		242149948	+1	tier1	-	no_errors	ENST00000274979	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.046	T
APBA1	320	genome.wustl.edu	37	9	72131501	72131501	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:72131501G>T	ENST00000265381.4	-	2	848	c.626C>A	c.(625-627)gCa>gAa	p.A209E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	209					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCCGTCGCGTGCGTCCAGCTC	0.721																																																	0													18.0	20.0	19.0					9																	72131501		2198	4296	6494	SO:0001583	missense	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.626C>A	9.37:g.72131501G>T	ENSP00000265381:p.Ala209Glu		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.A209E	ENST00000265381.4	37	c.626	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084917	0.36758	.	.	ENSG00000107282	ENST00000265381	T	0.03951	3.75	5.26	3.31	0.37934	.	0.379769	0.28398	N	0.015499	T	0.02727	0.0082	N	0.14661	0.345	0.30445	N	0.775758	B	0.26445	0.149	B	0.25884	0.064	T	0.23368	-1.0190	10	0.29301	T	0.29	.	5.8259	0.18554	0.1926:0.2941:0.5132:0.0	.	209	Q02410	APBA1_HUMAN	E	209	ENSP00000265381:A209E	ENSP00000265381:A209E	A	-	2	0	APBA1	71321321	0.000000	0.05858	1.000000	0.80357	0.889000	0.51656	0.334000	0.19787	2.634000	0.89283	0.561000	0.74099	GCA	APBA1	-	NULL	ENSG00000107282		0.721	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	-	0.00	27	0	G	NM_001163		72131501	-1	tier1	-	no_errors	ENST00000265381	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.959	T
APBA1	320	genome.wustl.edu	37	9	72131501	72131501	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:72131501G>T	ENST00000265381.4	-	2	848	c.626C>A	c.(625-627)gCa>gAa	p.A209E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	209					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCCGTCGCGTGCGTCCAGCTC	0.721																																																	0													18.0	20.0	19.0					9																	72131501		2198	4296	6494	SO:0001583	missense	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.626C>A	9.37:g.72131501G>T	ENSP00000265381:p.Ala209Glu		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.A209E	ENST00000265381.4	37	c.626	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084917	0.36758	.	.	ENSG00000107282	ENST00000265381	T	0.03951	3.75	5.26	3.31	0.37934	.	0.379769	0.28398	N	0.015499	T	0.02727	0.0082	N	0.14661	0.345	0.30445	N	0.775758	B	0.26445	0.149	B	0.25884	0.064	T	0.23368	-1.0190	10	0.29301	T	0.29	.	5.8259	0.18554	0.1926:0.2941:0.5132:0.0	.	209	Q02410	APBA1_HUMAN	E	209	ENSP00000265381:A209E	ENSP00000265381:A209E	A	-	2	0	APBA1	71321321	0.000000	0.05858	1.000000	0.80357	0.889000	0.51656	0.334000	0.19787	2.634000	0.89283	0.561000	0.74099	GCA	APBA1	-	NULL	ENSG00000107282		0.721	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	-	0.00	33	0	G	NM_001163		72131501	-1	tier1	-	no_errors	ENST00000265381	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.959	T
APBB1IP	54518	genome.wustl.edu	37	10	26800761	26800761	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:26800761A>G	ENST00000376236.4	+	7	1072	c.617A>G	c.(616-618)aAc>aGc	p.N206S	RNA5SP307_ENST00000362863.1_RNA	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	206	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GTTCTGGACAACCTTTTCGAG	0.478																																																	0													160.0	149.0	153.0					10																	26800761		2203	4300	6503	SO:0001583	missense	0			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.617A>G	10.37:g.26800761A>G	ENSP00000365411:p.Asn206Ser		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.N206S	ENST00000376236.4	37	c.617	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065119	0.76187	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.16597	2.33	5.65	5.65	0.86999	Ras-association (3);	0.039490	0.85682	D	0.000000	T	0.28632	0.0709	L	0.50333	1.59	0.80722	D	1	B;D	0.60160	0.115;0.987	B;P	0.60415	0.246;0.874	T	0.04360	-1.0957	10	0.06365	T	0.9	.	15.8689	0.79091	1.0:0.0:0.0:0.0	.	206;206	B4E100;Q7Z5R6	.;AB1IP_HUMAN	S	206	ENSP00000365411:N206S	ENSP00000365411:N206S	N	+	2	0	APBB1IP	26840767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.097000	0.76967	2.150000	0.67090	0.533000	0.62120	AAC	APBB1IP	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000077420		0.478	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	-	0.00	116	0	A	NM_019043		26800761	+1	tier1	-	no_errors	ENST00000376236	ensembl	human	known	74_37	missense	28.17	51	20	SNP	1.000	G
APBB1IP	54518	genome.wustl.edu	37	10	26800761	26800761	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:26800761A>G	ENST00000376236.4	+	7	1072	c.617A>G	c.(616-618)aAc>aGc	p.N206S	RNA5SP307_ENST00000362863.1_RNA	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	206	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GTTCTGGACAACCTTTTCGAG	0.478																																																	0													160.0	149.0	153.0					10																	26800761		2203	4300	6503	SO:0001583	missense	0			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.617A>G	10.37:g.26800761A>G	ENSP00000365411:p.Asn206Ser		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.N206S	ENST00000376236.4	37	c.617	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065119	0.76187	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.16597	2.33	5.65	5.65	0.86999	Ras-association (3);	0.039490	0.85682	D	0.000000	T	0.28632	0.0709	L	0.50333	1.59	0.80722	D	1	B;D	0.60160	0.115;0.987	B;P	0.60415	0.246;0.874	T	0.04360	-1.0957	10	0.06365	T	0.9	.	15.8689	0.79091	1.0:0.0:0.0:0.0	.	206;206	B4E100;Q7Z5R6	.;AB1IP_HUMAN	S	206	ENSP00000365411:N206S	ENSP00000365411:N206S	N	+	2	0	APBB1IP	26840767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.097000	0.76967	2.150000	0.67090	0.533000	0.62120	AAC	APBB1IP	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000077420		0.478	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	-	0.00	90	0	A	NM_019043		26800761	+1	tier1	-	no_errors	ENST00000376236	ensembl	human	known	74_37	missense	28.17	51	20	SNP	1.000	G
APC	324	genome.wustl.edu	37	5	112174004	112174004	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:112174004A>C	ENST00000457016.1	+	16	3093	c.2713A>C	c.(2713-2715)Agt>Cgt	p.S905R	APC_ENST00000257430.4_Missense_Mutation_p.S905R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.S905R			P25054	APC_HUMAN	adenomatous polyposis coli	905	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E902fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAAGACAGAAGTTCTGGGTC	0.443		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Unknown(1)|Deletion - Frameshift(1)	thyroid(1)|skin(1)											78.0	78.0	78.0					5																	112174004		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2713A>C	5.37:g.112174004A>C	ENSP00000413133:p.Ser905Arg		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S905R	ENST00000457016.1	37	c.2713	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	A	8.745	0.919883	0.17982	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93763	-2.56;-3.28;-2.56;-2.56;-2.73	5.92	4.75	0.60458	.	0.107165	0.64402	D	0.000003	D	0.91811	0.7409	M	0.71581	2.175	0.42668	D	0.993505	B;B	0.27380	0.177;0.177	B;B	0.26770	0.073;0.073	D	0.90882	0.4754	10	0.56958	D	0.05	-7.1184	12.2835	0.54779	0.9327:0.0:0.0673:0.0	.	907;905	Q4LE70;P25054	.;APC_HUMAN	R	905;887;905;905;905	ENSP00000413133:S905R;ENSP00000423224:S887R;ENSP00000257430:S905R;ENSP00000427089:S905R;ENSP00000423828:S905R	ENSP00000257430:S905R	S	+	1	0	APC	112201903	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	3.652000	0.54439	2.266000	0.75297	0.455000	0.32223	AGT	APC	-	NULL	ENSG00000134982		0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	-	0.00	25	0	A	NM_000038		112174004	+1	tier1	-	no_errors	ENST00000257430	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	C
APC	324	genome.wustl.edu	37	5	112174004	112174004	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:112174004A>C	ENST00000457016.1	+	16	3093	c.2713A>C	c.(2713-2715)Agt>Cgt	p.S905R	APC_ENST00000257430.4_Missense_Mutation_p.S905R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.S905R			P25054	APC_HUMAN	adenomatous polyposis coli	905	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E902fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAAGACAGAAGTTCTGGGTC	0.443		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Unknown(1)|Deletion - Frameshift(1)	thyroid(1)|skin(1)											78.0	78.0	78.0					5																	112174004		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2713A>C	5.37:g.112174004A>C	ENSP00000413133:p.Ser905Arg		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S905R	ENST00000457016.1	37	c.2713	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	A	8.745	0.919883	0.17982	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93763	-2.56;-3.28;-2.56;-2.56;-2.73	5.92	4.75	0.60458	.	0.107165	0.64402	D	0.000003	D	0.91811	0.7409	M	0.71581	2.175	0.42668	D	0.993505	B;B	0.27380	0.177;0.177	B;B	0.26770	0.073;0.073	D	0.90882	0.4754	10	0.56958	D	0.05	-7.1184	12.2835	0.54779	0.9327:0.0:0.0673:0.0	.	907;905	Q4LE70;P25054	.;APC_HUMAN	R	905;887;905;905;905	ENSP00000413133:S905R;ENSP00000423224:S887R;ENSP00000257430:S905R;ENSP00000427089:S905R;ENSP00000423828:S905R	ENSP00000257430:S905R	S	+	1	0	APC	112201903	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	3.652000	0.54439	2.266000	0.75297	0.455000	0.32223	AGT	APC	-	NULL	ENSG00000134982		0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	-	0.00	49	0	A	NM_000038		112174004	+1	tier1	-	no_errors	ENST00000257430	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	C
APP	351	genome.wustl.edu	37	21	27347420	27347420	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:27347420T>C	ENST00000346798.3	-	11	1454	c.1421A>G	c.(1420-1422)gAg>gGg	p.E474G	APP_ENST00000448388.2_Missense_Mutation_p.E364G|APP_ENST00000348990.5_Missense_Mutation_p.E399G|APP_ENST00000359726.3_Missense_Mutation_p.E418G|APP_ENST00000440126.3_Missense_Mutation_p.E450G|APP_ENST00000354192.3_Missense_Mutation_p.E343G|APP_ENST00000357903.3_Missense_Mutation_p.E455G|APP_ENST00000439274.2_Missense_Mutation_p.E418G|APP_ENST00000358918.3_Missense_Mutation_p.E474G	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	474					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GATGTAGTTCTCCAGGGCCAG	0.597																																																	0													98.0	73.0	81.0					21																	27347420		2203	4300	6503	SO:0001583	missense	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1421A>G	21.37:g.27347420T>C	ENSP00000284981:p.Glu474Gly		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.E474G	ENST00000346798.3	37	c.1421	CCDS13576.1	21	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628796	0.87560	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	4.12	4.12	0.48240	Amyloidogenic glycoprotein, E2 domain (2);	0.099977	0.64402	D	0.000002	T	0.69278	0.3093	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.994;1.0;0.993;0.993;1.0	D;D;D;D;D;D;D	0.73708	0.972;0.95;0.969;0.953;0.947;0.947;0.981	T	0.75488	-0.3300	10	0.87932	D	0	-20.1901	13.825	0.63346	0.0:0.0:0.0:1.0	.	364;418;450;343;399;455;474	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	G	474;343;399;455;474;418;364;450;418;61	ENSP00000284981:E474G;ENSP00000346129:E343G;ENSP00000345463:E399G;ENSP00000350578:E455G;ENSP00000351796:E474G;ENSP00000352760:E418G;ENSP00000388538:E364G;ENSP00000387483:E450G;ENSP00000398879:E418G;ENSP00000397795:E61G	ENSP00000284981:E474G	E	-	2	0	APP	26269291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.482000	0.81143	2.096000	0.63516	0.383000	0.25322	GAG	APP	-	superfamily_Amyloid_glyco_E2_domain	ENSG00000142192		0.597	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	-	0.00	61	0	T	NM_000484		27347420	-1	tier1	-	no_errors	ENST00000346798	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	C
APP	351	genome.wustl.edu	37	21	27347420	27347420	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:27347420T>C	ENST00000346798.3	-	11	1454	c.1421A>G	c.(1420-1422)gAg>gGg	p.E474G	APP_ENST00000448388.2_Missense_Mutation_p.E364G|APP_ENST00000348990.5_Missense_Mutation_p.E399G|APP_ENST00000359726.3_Missense_Mutation_p.E418G|APP_ENST00000440126.3_Missense_Mutation_p.E450G|APP_ENST00000354192.3_Missense_Mutation_p.E343G|APP_ENST00000357903.3_Missense_Mutation_p.E455G|APP_ENST00000439274.2_Missense_Mutation_p.E418G|APP_ENST00000358918.3_Missense_Mutation_p.E474G	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	474					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GATGTAGTTCTCCAGGGCCAG	0.597																																																	0													98.0	73.0	81.0					21																	27347420		2203	4300	6503	SO:0001583	missense	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1421A>G	21.37:g.27347420T>C	ENSP00000284981:p.Glu474Gly		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.E474G	ENST00000346798.3	37	c.1421	CCDS13576.1	21	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628796	0.87560	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	4.12	4.12	0.48240	Amyloidogenic glycoprotein, E2 domain (2);	0.099977	0.64402	D	0.000002	T	0.69278	0.3093	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.994;1.0;0.993;0.993;1.0	D;D;D;D;D;D;D	0.73708	0.972;0.95;0.969;0.953;0.947;0.947;0.981	T	0.75488	-0.3300	10	0.87932	D	0	-20.1901	13.825	0.63346	0.0:0.0:0.0:1.0	.	364;418;450;343;399;455;474	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	G	474;343;399;455;474;418;364;450;418;61	ENSP00000284981:E474G;ENSP00000346129:E343G;ENSP00000345463:E399G;ENSP00000350578:E455G;ENSP00000351796:E474G;ENSP00000352760:E418G;ENSP00000388538:E364G;ENSP00000387483:E450G;ENSP00000398879:E418G;ENSP00000397795:E61G	ENSP00000284981:E474G	E	-	2	0	APP	26269291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.482000	0.81143	2.096000	0.63516	0.383000	0.25322	GAG	APP	-	superfamily_Amyloid_glyco_E2_domain	ENSG00000142192		0.597	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	-	0.00	71	0	T	NM_000484		27347420	-1	tier1	-	no_errors	ENST00000346798	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	C
ARHGAP20	57569	genome.wustl.edu	37	11	110485314	110485314	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:110485314A>G	ENST00000260283.4	-	7	885	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.F175L|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.F165L|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.F178L|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.F175L|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.F165L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	201	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTTGGCGAAGATTTTGAGG	0.413																																																	0													120.0	107.0	112.0					11																	110485314		2201	4298	6499	SO:0001583	missense	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.601T>C	11.37:g.110485314A>G	ENSP00000260283:p.Phe201Leu		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.F201L	ENST00000260283.4	37	c.601	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309304	0.81247	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	6.06	3.61	0.41365	Ras-association (2);	0.267989	0.43260	D	0.000599	T	0.23370	0.0565	L	0.38175	1.15	0.30744	N	0.745884	D;D	0.54397	0.966;0.958	P;P	0.57204	0.815;0.719	T	0.07083	-1.0791	10	0.18710	T	0.47	.	6.309	0.21154	0.4661:0.1234:0.0:0.4105	.	201;178	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	L	201;175;178;165;175;165	ENSP00000260283:F201L;ENSP00000349660:F175L;ENSP00000432076:F178L;ENSP00000436319:F165L;ENSP00000436522:F175L;ENSP00000431399:F165L	ENSP00000260283:F201L	F	-	1	0	ARHGAP20	109990524	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.095000	0.50235	1.095000	0.41419	0.533000	0.62120	TTC	ARHGAP20	-	pfam_Ras-assoc,pfscan_Ras-assoc	ENSG00000137727		0.413	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	-	0.00	103	0	A	NM_020809		110485314	-1	tier1	-	no_errors	ENST00000260283	ensembl	human	known	74_37	missense	10.53	68	8	SNP	1.000	G
ARHGAP20	57569	genome.wustl.edu	37	11	110485314	110485314	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:110485314A>G	ENST00000260283.4	-	7	885	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.F175L|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.F165L|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.F178L|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.F175L|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.F165L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	201	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTTGGCGAAGATTTTGAGG	0.413																																																	0													120.0	107.0	112.0					11																	110485314		2201	4298	6499	SO:0001583	missense	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.601T>C	11.37:g.110485314A>G	ENSP00000260283:p.Phe201Leu		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.F201L	ENST00000260283.4	37	c.601	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309304	0.81247	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	6.06	3.61	0.41365	Ras-association (2);	0.267989	0.43260	D	0.000599	T	0.23370	0.0565	L	0.38175	1.15	0.30744	N	0.745884	D;D	0.54397	0.966;0.958	P;P	0.57204	0.815;0.719	T	0.07083	-1.0791	10	0.18710	T	0.47	.	6.309	0.21154	0.4661:0.1234:0.0:0.4105	.	201;178	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	L	201;175;178;165;175;165	ENSP00000260283:F201L;ENSP00000349660:F175L;ENSP00000432076:F178L;ENSP00000436319:F165L;ENSP00000436522:F175L;ENSP00000431399:F165L	ENSP00000260283:F201L	F	-	1	0	ARHGAP20	109990524	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.095000	0.50235	1.095000	0.41419	0.533000	0.62120	TTC	ARHGAP20	-	pfam_Ras-assoc,pfscan_Ras-assoc	ENSG00000137727		0.413	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	-	0.00	72	0	A	NM_020809		110485314	-1	tier1	-	no_errors	ENST00000260283	ensembl	human	known	74_37	missense	10.53	68	8	SNP	1.000	G
ARHGAP23	57636	genome.wustl.edu	37	17	36623420	36623420	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:36623420G>T	ENST00000431231.2	+	7	1564	c.1496G>T	c.(1495-1497)cGc>cTc	p.R499L	ARHGAP23_ENST00000443378.1_Missense_Mutation_p.R405L|ARHGAP23_ENST00000437668.3_Missense_Mutation_p.R499L	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	499					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						CCGACGGGCCGCAAGGTTCAG	0.677																																																	0													19.0	21.0	20.0					17																	36623420		692	1591	2283	SO:0001583	missense	0			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.1496G>T	17.37:g.36623420G>T	ENSP00000393539:p.Arg499Leu			Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R499L	ENST00000431231.2	37	c.1496	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723806	0.68959	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.25749	1.78;2.19;2.17	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.42245	1.32	0.41825	D	0.990046	D;D	0.89917	0.996;1.0	D;D	0.87578	0.952;0.998	T	0.43861	-0.9365	10	0.72032	D	0.01	.	16.5075	0.84276	0.0:0.0:1.0:0.0	.	499;499	Q9P227;Q9P227-2	RHG23_HUMAN;.	L	499;499;405	ENSP00000394153:R499L;ENSP00000393539:R499L;ENSP00000407333:R405L	ENSP00000393539:R499L	R	+	2	0	ARHGAP23	33876946	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.523000	0.73787	2.200000	0.70718	0.462000	0.41574	CGC	ARHGAP23	-	NULL	ENSG00000225485		0.677	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	-	0.00	56	0	G	XM_290799		36623420	+1	tier1	-	no_errors	ENST00000431231	ensembl	human	known	74_37	missense	20.69	46	12	SNP	1.000	T
ARHGAP23	57636	genome.wustl.edu	37	17	36623420	36623420	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:36623420G>T	ENST00000431231.2	+	7	1564	c.1496G>T	c.(1495-1497)cGc>cTc	p.R499L	ARHGAP23_ENST00000443378.1_Missense_Mutation_p.R405L|ARHGAP23_ENST00000437668.3_Missense_Mutation_p.R499L	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	499					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						CCGACGGGCCGCAAGGTTCAG	0.677																																																	0													19.0	21.0	20.0					17																	36623420		692	1591	2283	SO:0001583	missense	0			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.1496G>T	17.37:g.36623420G>T	ENSP00000393539:p.Arg499Leu			Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R499L	ENST00000431231.2	37	c.1496	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723806	0.68959	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.25749	1.78;2.19;2.17	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.42245	1.32	0.41825	D	0.990046	D;D	0.89917	0.996;1.0	D;D	0.87578	0.952;0.998	T	0.43861	-0.9365	10	0.72032	D	0.01	.	16.5075	0.84276	0.0:0.0:1.0:0.0	.	499;499	Q9P227;Q9P227-2	RHG23_HUMAN;.	L	499;499;405	ENSP00000394153:R499L;ENSP00000393539:R499L;ENSP00000407333:R405L	ENSP00000393539:R499L	R	+	2	0	ARHGAP23	33876946	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.523000	0.73787	2.200000	0.70718	0.462000	0.41574	CGC	ARHGAP23	-	NULL	ENSG00000225485		0.677	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	-	0.00	72	0	G	XM_290799		36623420	+1	tier1	-	no_errors	ENST00000431231	ensembl	human	known	74_37	missense	20.69	46	12	SNP	1.000	T
ARHGAP28	79822	genome.wustl.edu	37	18	6882152	6882152	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:6882152T>G	ENST00000383472.4	+	11	1411	c.1307T>G	c.(1306-1308)cTt>cGt	p.L436R	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.L384R|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.L277R|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.L259R|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.L277R|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.L272R|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.L277R|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.L436R			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	436	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.L436P(1)|p.L277P(1)|p.L436R(1)|p.L277R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CGTGAAGAACTTGATGCCAAG	0.378																																																	4	Substitution - Missense(4)	large_intestine(4)											151.0	146.0	148.0					18																	6882152		2203	4300	6503	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1307T>G	18.37:g.6882152T>G	ENSP00000372964:p.Leu436Arg		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L436R	ENST00000383472.4	37	c.1307		18	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127366	0.77549	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	5.68	5.68	0.88126	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.151215	0.44285	D	0.000463	T	0.60702	0.2289	M	0.91612	3.225	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.997	T	0.70718	-0.4795	10	0.87932	D	0	.	15.9369	0.79717	0.0:0.0:0.0:1.0	.	436;268;277;384	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	R	436;384;277;272;277;277;268;259	ENSP00000382963:L436R;ENSP00000262227:L384R;ENSP00000392660:L277R;ENSP00000437262:L272R;ENSP00000313506:L277R;ENSP00000406907:L277R	ENSP00000262227:L384R	L	+	2	0	ARHGAP28	6872152	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.655000	0.74392	2.172000	0.68678	0.533000	0.62120	CTT	ARHGAP28	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000088756		0.378	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0.00	115	0	T	XM_371108		6882152	+1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	missense	36.47	54	31	SNP	1.000	G
ARHGAP28	79822	genome.wustl.edu	37	18	6882152	6882152	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:6882152T>G	ENST00000383472.4	+	11	1411	c.1307T>G	c.(1306-1308)cTt>cGt	p.L436R	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.L384R|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.L277R|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.L259R|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.L277R|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.L272R|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.L277R|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.L436R			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	436	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.L436P(1)|p.L277P(1)|p.L436R(1)|p.L277R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CGTGAAGAACTTGATGCCAAG	0.378																																																	4	Substitution - Missense(4)	large_intestine(4)											151.0	146.0	148.0					18																	6882152		2203	4300	6503	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1307T>G	18.37:g.6882152T>G	ENSP00000372964:p.Leu436Arg		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L436R	ENST00000383472.4	37	c.1307		18	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127366	0.77549	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	5.68	5.68	0.88126	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.151215	0.44285	D	0.000463	T	0.60702	0.2289	M	0.91612	3.225	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.997	T	0.70718	-0.4795	10	0.87932	D	0	.	15.9369	0.79717	0.0:0.0:0.0:1.0	.	436;268;277;384	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	R	436;384;277;272;277;277;268;259	ENSP00000382963:L436R;ENSP00000262227:L384R;ENSP00000392660:L277R;ENSP00000437262:L272R;ENSP00000313506:L277R;ENSP00000406907:L277R	ENSP00000262227:L384R	L	+	2	0	ARHGAP28	6872152	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.655000	0.74392	2.172000	0.68678	0.533000	0.62120	CTT	ARHGAP28	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000088756		0.378	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0.00	55	0	T	XM_371108		6882152	+1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	missense	36.47	54	31	SNP	1.000	G
ARHGAP36	158763	genome.wustl.edu	37	X	130218356	130218356	+	Silent	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:130218356T>A	ENST00000276211.5	+	5	1068	c.723T>A	c.(721-723)gcT>gcA	p.A241A	ARHGAP36_ENST00000370921.1_Silent_p.A105A|ARHGAP36_ENST00000370922.1_Silent_p.A229A	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	241	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTGTTGAGGCTTGCTGCCAAT	0.448																																																	0													41.0	39.0	40.0					X																	130218356		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.723T>A	X.37:g.130218356T>A			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A241	ENST00000276211.5	37	c.723	CCDS14628.1	X																																																																																			ARHGAP36	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000147256		0.448	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	-	0.00	37	0	T	NM_144967		130218356	+1	tier1	-	no_errors	ENST00000276211	ensembl	human	known	74_37	silent	54.17	21	26	SNP	0.800	A
ARHGEF38	54848	genome.wustl.edu	37	4	106588326	106588326	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:106588326T>G	ENST00000420470.2	+	12	1874	c.1730T>G	c.(1729-1731)cTt>cGt	p.L577R	ARHGEF38_ENST00000508036.2_3'UTR	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	577						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						CGCTCCAAACTTCTATCCACA	0.408																																																	0																																										SO:0001583	missense	0			AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.1730T>G	4.37:g.106588326T>G	ENSP00000416125:p.Leu577Arg		C9JIB4	Missense_Mutation	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.L577R	ENST00000420470.2	37	c.1730	CCDS56338.1	4	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308171	0.81247	.	.	ENSG00000236699	ENST00000420470	T	0.61274	0.12	5.6	5.6	0.85130	.	.	.	.	.	T	0.76673	0.4020	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.80344	-0.1422	9	0.72032	D	0.01	-4.9459	15.7919	0.78372	0.0:0.0:0.0:1.0	.	577	C9JIB4	.	R	577	ENSP00000416125:L577R	ENSP00000416125:L577R	L	+	2	0	ARHGEF38	106807775	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.409000	0.80053	2.114000	0.64651	0.533000	0.62120	CTT	ARHGEF38	-	superfamily_SH3_domain	ENSG00000236699		0.408	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	ARHGEF38	HGNC	protein_coding	OTTHUMT00000336934.3	-	0.00	80	0	T	NM_017700		106588326	+1	tier1	-	no_errors	ENST00000420470	ensembl	human	putative	74_37	missense	12.50	28	4	SNP	1.000	G
ARMCX4	100131755	genome.wustl.edu	37	X	100746311	100746311	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:100746311T>G	ENST00000423738.3	+	2	2937	c.2735T>G	c.(2734-2736)gTt>gGt	p.V912G		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	201						integral component of membrane (GO:0016021)				lung(1)	1						CAGCCTCAGGTTGTGGCCAAC	0.542																																																	0																																										SO:0001583	missense	0			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.2735T>G	X.37:g.100746311T>G	ENSP00000404304:p.Val912Gly		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.V912G	ENST00000423738.3	37	c.2735	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	4.811	0.150871	0.09185	.	.	ENSG00000196440	ENST00000423738	.	.	.	3.99	-1.56	0.08532	.	.	.	.	.	T	0.23727	0.0574	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29671	-1.0004	4	.	.	.	.	5.2819	0.15680	0.0:0.3464:0.1505:0.5032	.	.	.	.	G	1016	.	.	V	+	2	0	ARMCX4	100632967	.	.	0.000000	0.03702	0.005000	0.04900	.	.	-0.473000	0.06871	-0.314000	0.08810	GTT	ARMCX4	-	NULL	ENSG00000196440		0.542	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	-	0.00	52	0	T	NM_001256155		100746311	+1	tier1	-	no_errors	ENST00000423738	ensembl	human	putative	74_37	missense	25.00	36	12	SNP	0.000	G
ARMCX4	100131755	genome.wustl.edu	37	X	100746311	100746311	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:100746311T>G	ENST00000423738.3	+	2	2937	c.2735T>G	c.(2734-2736)gTt>gGt	p.V912G		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	201						integral component of membrane (GO:0016021)				lung(1)	1						CAGCCTCAGGTTGTGGCCAAC	0.542																																																	0																																										SO:0001583	missense	0			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.2735T>G	X.37:g.100746311T>G	ENSP00000404304:p.Val912Gly		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.V912G	ENST00000423738.3	37	c.2735	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	4.811	0.150871	0.09185	.	.	ENSG00000196440	ENST00000423738	.	.	.	3.99	-1.56	0.08532	.	.	.	.	.	T	0.23727	0.0574	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29671	-1.0004	4	.	.	.	.	5.2819	0.15680	0.0:0.3464:0.1505:0.5032	.	.	.	.	G	1016	.	.	V	+	2	0	ARMCX4	100632967	.	.	0.000000	0.03702	0.005000	0.04900	.	.	-0.473000	0.06871	-0.314000	0.08810	GTT	ARMCX4	-	NULL	ENSG00000196440		0.542	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	-	0.00	67	0	T	NM_001256155		100746311	+1	tier1	-	no_errors	ENST00000423738	ensembl	human	putative	74_37	missense	25.00	36	12	SNP	0.000	G
ARMCX4	100131755	genome.wustl.edu	37	X	100747720	100747720	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:100747720G>T	ENST00000423738.3	+	2	4346	c.4144G>T	c.(4144-4146)Gat>Tat	p.D1382Y		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	0						integral component of membrane (GO:0016021)				lung(1)	1						TGGGACACTTGATCAGTCTGG	0.597																																																	0																																										SO:0001583	missense	0			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.4144G>T	X.37:g.100747720G>T	ENSP00000404304:p.Asp1382Tyr		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.D1382Y	ENST00000423738.3	37	c.4144	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	2.631	-0.286299	0.05605	.	.	ENSG00000196440	ENST00000423738	.	.	.	3.04	2.14	0.27477	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16453	-1.0402	4	.	.	.	.	3.8075	0.08783	0.3356:0.0:0.6644:0.0	.	.	.	.	Y	1486	.	.	D	+	1	0	ARMCX4	100634376	0.001000	0.12720	0.274000	0.24659	0.826000	0.46750	0.826000	0.27407	1.478000	0.48253	0.271000	0.19318	GAT	ARMCX4	-	NULL	ENSG00000196440		0.597	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	-	0.00	79	0	G	NM_001256155		100747720	+1	tier1	-	no_errors	ENST00000423738	ensembl	human	putative	74_37	missense	5.33	71	4	SNP	0.014	T
ARMCX4	100131755	genome.wustl.edu	37	X	100747720	100747720	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:100747720G>T	ENST00000423738.3	+	2	4346	c.4144G>T	c.(4144-4146)Gat>Tat	p.D1382Y		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	0						integral component of membrane (GO:0016021)				lung(1)	1						TGGGACACTTGATCAGTCTGG	0.597																																																	0																																										SO:0001583	missense	0			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.4144G>T	X.37:g.100747720G>T	ENSP00000404304:p.Asp1382Tyr		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.D1382Y	ENST00000423738.3	37	c.4144	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	2.631	-0.286299	0.05605	.	.	ENSG00000196440	ENST00000423738	.	.	.	3.04	2.14	0.27477	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16453	-1.0402	4	.	.	.	.	3.8075	0.08783	0.3356:0.0:0.6644:0.0	.	.	.	.	Y	1486	.	.	D	+	1	0	ARMCX4	100634376	0.001000	0.12720	0.274000	0.24659	0.826000	0.46750	0.826000	0.27407	1.478000	0.48253	0.271000	0.19318	GAT	ARMCX4	-	NULL	ENSG00000196440		0.597	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	-	0.00	94	0	G	NM_001256155		100747720	+1	tier1	-	no_errors	ENST00000423738	ensembl	human	putative	74_37	missense	5.33	71	4	SNP	0.014	T
ARMCX3	51566	genome.wustl.edu	37	X	100880909	100880909	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:100880909G>T	ENST00000341189.4	+	5	1806	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000471229.2_Missense_Mutation_p.D314Y|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_Missense_Mutation_p.D314Y	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	314					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GAACATAAATGATAATTTCAA	0.353																																																	0													41.0	43.0	42.0					X																	100880909		2196	4287	6483	SO:0001583	missense	0			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.940G>T	X.37:g.100880909G>T	ENSP00000340672:p.Asp314Tyr		Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.D314Y	ENST00000341189.4	37	c.940	CCDS14489.1	X	.	.	.	.	.	.	.	.	.	.	G	9.058	0.993804	0.19043	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.32515	1.45;1.45	4.43	4.43	0.53597	Armadillo-type fold (1);	0.258863	0.45606	D	0.000353	T	0.23054	0.0557	N	0.15975	0.35	0.34661	D	0.72266	P	0.36086	0.536	B	0.44224	0.444	T	0.28650	-1.0037	9	.	.	.	-16.2045	11.364	0.49660	0.0:0.0:1.0:0.0	.	314	Q9UH62	ARMX3_HUMAN	Y	314	ENSP00000340672:D314Y;ENSP00000439032:D314Y	.	D	+	1	0	ARMCX3	100767565	1.000000	0.71417	0.994000	0.49952	0.689000	0.40095	1.749000	0.38319	2.454000	0.82982	0.600000	0.82982	GAT	ARMCX3	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000102401		0.353	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3	HGNC	protein_coding	OTTHUMT00000057568.2		0.00	53	0	G	NM_016607		100880909	+1			no_errors	ENST00000341189	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.994	T
ARV1	64801	genome.wustl.edu	37	1	231124166	231124166	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:231124166T>G	ENST00000310256.2	+	2	332	c.275T>G	c.(274-276)cTt>cGt	p.L92R	ARV1_ENST00000366658.2_Intron|ARV1_ENST00000497753.1_3'UTR|AL844165.1_ENST00000516322.1_RNA	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	92					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		AGACATATTCTTTTCAATACT	0.274																																																	0													111.0	119.0	117.0					1																	231124166		2203	4296	6499	SO:0001583	missense	0			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.275T>G	1.37:g.231124166T>G	ENSP00000312458:p.Leu92Arg		A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Missense_Mutation	SNP	pfam_Arv1	p.L92R	ENST00000310256.2	37	c.275	CCDS1589.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.86|16.86	3.238014|3.238014	0.58886|0.58886	.|.	.|.	ENSG00000173409|ENSG00000173409	ENST00000450711;ENST00000435927|ENST00000310256	.|T	.|0.53857	.|0.6	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76905|0.76905	0.4053|0.4053	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.69479	.|0.964	T|T	0.81686|0.81686	-0.0820|-0.0820	5|10	.|0.87932	.|D	.|0	-9.7304|-9.7304	16.5582|16.5582	0.84512|0.84512	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|92	.|Q9H2C2	.|ARV1_HUMAN	V|R	89;79|92	.|ENSP00000312458:L92R	.|ENSP00000312458:L92R	F|L	+|+	1|2	0|0	ARV1|ARV1	229190789|229190789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.262000|0.262000	0.26303|0.26303	7.468000|7.468000	0.80943|0.80943	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	TTT|CTT	ARV1	-	pfam_Arv1	ENSG00000173409		0.274	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARV1	HGNC	protein_coding	OTTHUMT00000092362.2	-	0.00	36	0	T	NM_022786		231124166	+1	tier1	-	no_errors	ENST00000310256	ensembl	human	known	74_37	missense	17.24	48	10	SNP	1.000	G
ARV1	64801	genome.wustl.edu	37	1	231124166	231124166	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:231124166T>G	ENST00000310256.2	+	2	332	c.275T>G	c.(274-276)cTt>cGt	p.L92R	ARV1_ENST00000366658.2_Intron|ARV1_ENST00000497753.1_3'UTR|AL844165.1_ENST00000516322.1_RNA	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	92					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		AGACATATTCTTTTCAATACT	0.274																																																	0													111.0	119.0	117.0					1																	231124166		2203	4296	6499	SO:0001583	missense	0			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.275T>G	1.37:g.231124166T>G	ENSP00000312458:p.Leu92Arg		A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Missense_Mutation	SNP	pfam_Arv1	p.L92R	ENST00000310256.2	37	c.275	CCDS1589.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.86|16.86	3.238014|3.238014	0.58886|0.58886	.|.	.|.	ENSG00000173409|ENSG00000173409	ENST00000450711;ENST00000435927|ENST00000310256	.|T	.|0.53857	.|0.6	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76905|0.76905	0.4053|0.4053	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.69479	.|0.964	T|T	0.81686|0.81686	-0.0820|-0.0820	5|10	.|0.87932	.|D	.|0	-9.7304|-9.7304	16.5582|16.5582	0.84512|0.84512	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|92	.|Q9H2C2	.|ARV1_HUMAN	V|R	89;79|92	.|ENSP00000312458:L92R	.|ENSP00000312458:L92R	F|L	+|+	1|2	0|0	ARV1|ARV1	229190789|229190789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.262000|0.262000	0.26303|0.26303	7.468000|7.468000	0.80943|0.80943	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	TTT|CTT	ARV1	-	pfam_Arv1	ENSG00000173409		0.274	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARV1	HGNC	protein_coding	OTTHUMT00000092362.2	-	0.00	76	0	T	NM_022786		231124166	+1	tier1	-	no_errors	ENST00000310256	ensembl	human	known	74_37	missense	17.24	48	10	SNP	1.000	G
ASCC3	10973	genome.wustl.edu	37	6	100988137	100988137	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:100988137G>T	ENST00000369162.2	-	37	6021	c.5677C>A	c.(5677-5679)Ctc>Atc	p.L1893I		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1893	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGTAGCAGGAGATGTGCTTTG	0.453																																																	0													224.0	190.0	201.0					6																	100988137		2203	4300	6503	SO:0001583	missense	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5677C>A	6.37:g.100988137G>T	ENSP00000358159:p.Leu1893Ile		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1893I	ENST00000369162.2	37	c.5677	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	G	31	5.073813	0.94000	.	.	ENSG00000112249	ENST00000369162	T	0.61274	0.12	5.66	5.66	0.87406	Sec63 domain (3);	0.000000	0.64402	D	0.000001	T	0.73210	0.3558	M	0.79926	2.475	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.70073	-0.4972	10	0.33940	T	0.23	.	19.8023	0.96513	0.0:0.0:1.0:0.0	.	1893	Q8N3C0	HELC1_HUMAN	I	1893	ENSP00000358159:L1893I	ENSP00000358159:L1893I	L	-	1	0	ASCC3	101094858	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.937000	0.92936	2.674000	0.91012	0.650000	0.86243	CTC	ASCC3	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000112249		0.453	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	-	0.00	71	0	G	NM_006828		100988137	-1	tier1	-	no_errors	ENST00000369162	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T
ASCC3	10973	genome.wustl.edu	37	6	100988137	100988137	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:100988137G>T	ENST00000369162.2	-	37	6021	c.5677C>A	c.(5677-5679)Ctc>Atc	p.L1893I		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1893	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGTAGCAGGAGATGTGCTTTG	0.453																																																	0													224.0	190.0	201.0					6																	100988137		2203	4300	6503	SO:0001583	missense	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5677C>A	6.37:g.100988137G>T	ENSP00000358159:p.Leu1893Ile		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1893I	ENST00000369162.2	37	c.5677	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	G	31	5.073813	0.94000	.	.	ENSG00000112249	ENST00000369162	T	0.61274	0.12	5.66	5.66	0.87406	Sec63 domain (3);	0.000000	0.64402	D	0.000001	T	0.73210	0.3558	M	0.79926	2.475	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.70073	-0.4972	10	0.33940	T	0.23	.	19.8023	0.96513	0.0:0.0:1.0:0.0	.	1893	Q8N3C0	HELC1_HUMAN	I	1893	ENSP00000358159:L1893I	ENSP00000358159:L1893I	L	-	1	0	ASCC3	101094858	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.937000	0.92936	2.674000	0.91012	0.650000	0.86243	CTC	ASCC3	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000112249		0.453	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	-	0.00	80	0	G	NM_006828		100988137	-1	tier1	-	no_errors	ENST00000369162	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T
ASH1L	55870	genome.wustl.edu	37	1	155448920	155448920	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:155448920T>C	ENST00000368346.3	-	3	4380	c.3741A>G	c.(3739-3741)aaA>aaG	p.K1247K	ASH1L_ENST00000392403.3_Silent_p.K1247K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1247					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGTGTTTATGTTTTTCTTTAA	0.393																																																	0													170.0	178.0	175.0					1																	155448920		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3741A>G	1.37:g.155448920T>C			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.K1247	ENST00000368346.3	37	c.3741		1																																																																																			ASH1L	-	NULL	ENSG00000116539		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	-	0.00	30	0	T	NM_018489		155448920	-1	tier1	-	no_errors	ENST00000368346	ensembl	human	known	74_37	silent	50.00	13	13	SNP	1.000	C
ASH1L	55870	genome.wustl.edu	37	1	155448920	155448920	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:155448920T>C	ENST00000368346.3	-	3	4380	c.3741A>G	c.(3739-3741)aaA>aaG	p.K1247K	ASH1L_ENST00000392403.3_Silent_p.K1247K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1247					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGTGTTTATGTTTTTCTTTAA	0.393																																																	0													170.0	178.0	175.0					1																	155448920		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3741A>G	1.37:g.155448920T>C			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.K1247	ENST00000368346.3	37	c.3741		1																																																																																			ASH1L	-	NULL	ENSG00000116539		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	-	0.00	36	0	T	NM_018489		155448920	-1	tier1	-	no_errors	ENST00000368346	ensembl	human	known	74_37	silent	50.00	13	13	SNP	1.000	C
ASPA	443	genome.wustl.edu	37	17	3397735	3397735	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:3397735C>A	ENST00000263080.2	+	5	884	c.726C>A	c.(724-726)atC>atA	p.I242I	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.I242I	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	242					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTGCTGCTATCATCCATCCTA	0.353																																																	0													154.0	168.0	163.0					17																	3397735		2203	4300	6503	SO:0001819	synonymous_variant	0			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.726C>A	17.37:g.3397735C>A				Silent	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.I242	ENST00000263080.2	37	c.726	CCDS11028.1	17																																																																																			ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase	ENSG00000108381		0.353	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	-	0.00	42	0	C	NM_000049		3397735	+1	tier1	-	no_errors	ENST00000263080	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.031	A
ASPA	443	genome.wustl.edu	37	17	3397735	3397735	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:3397735C>A	ENST00000263080.2	+	5	884	c.726C>A	c.(724-726)atC>atA	p.I242I	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.I242I	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	242					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTGCTGCTATCATCCATCCTA	0.353																																																	0													154.0	168.0	163.0					17																	3397735		2203	4300	6503	SO:0001819	synonymous_variant	0			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.726C>A	17.37:g.3397735C>A				Silent	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.I242	ENST00000263080.2	37	c.726	CCDS11028.1	17																																																																																			ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase	ENSG00000108381		0.353	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	-	0.00	45	0	C	NM_000049		3397735	+1	tier1	-	no_errors	ENST00000263080	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.031	A
ASPM	259266	genome.wustl.edu	37	1	197065138	197065138	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:197065138C>T	ENST00000367409.4	-	19	9233	c.8977G>A	c.(8977-8979)Gag>Aag	p.E2993K	ASPM_ENST00000294732.7_Missense_Mutation_p.E1408K|ASPM_ENST00000367408.1_Missense_Mutation_p.E658K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2993					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CGTGTTCTCTCTAGTTTGGTA	0.323																																																	0													99.0	107.0	104.0					1																	197065138		2203	4299	6502	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8977G>A	1.37:g.197065138C>T	ENSP00000356379:p.Glu2993Lys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.E2993K	ENST00000367409.4	37	c.8977	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863815	0.32884	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;D	0.95171	-0.87;-0.87;-3.63	5.15	3.17	0.36434	.	0.329988	0.29205	N	0.012823	D	0.89044	0.6603	L	0.47716	1.5	0.09310	N	1	B;B;P	0.51351	0.437;0.267;0.944	B;B;B	0.39339	0.115;0.058;0.297	T	0.81174	-0.1053	10	0.05959	T	0.93	.	12.6741	0.56884	0.0:0.446:0.554:0.0	.	979;1408;2993	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	K	2993;1408;658;979	ENSP00000356379:E2993K;ENSP00000294732:E1408K;ENSP00000356378:E658K	ENSP00000294732:E1408K	E	-	1	0	ASPM	195331761	0.869000	0.29996	0.562000	0.28370	0.882000	0.50991	1.305000	0.33493	1.124000	0.41980	0.563000	0.77884	GAG	ASPM	-	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	ENSG00000066279		0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	0.00	30	0	C	NM_018136		197065138	-1	tier1	-	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	15.56	37	7	SNP	0.428	T
ASPM	259266	genome.wustl.edu	37	1	197065138	197065138	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:197065138C>T	ENST00000367409.4	-	19	9233	c.8977G>A	c.(8977-8979)Gag>Aag	p.E2993K	ASPM_ENST00000294732.7_Missense_Mutation_p.E1408K|ASPM_ENST00000367408.1_Missense_Mutation_p.E658K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2993					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CGTGTTCTCTCTAGTTTGGTA	0.323																																																	0													99.0	107.0	104.0					1																	197065138		2203	4299	6502	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8977G>A	1.37:g.197065138C>T	ENSP00000356379:p.Glu2993Lys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.E2993K	ENST00000367409.4	37	c.8977	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863815	0.32884	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;D	0.95171	-0.87;-0.87;-3.63	5.15	3.17	0.36434	.	0.329988	0.29205	N	0.012823	D	0.89044	0.6603	L	0.47716	1.5	0.09310	N	1	B;B;P	0.51351	0.437;0.267;0.944	B;B;B	0.39339	0.115;0.058;0.297	T	0.81174	-0.1053	10	0.05959	T	0.93	.	12.6741	0.56884	0.0:0.446:0.554:0.0	.	979;1408;2993	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	K	2993;1408;658;979	ENSP00000356379:E2993K;ENSP00000294732:E1408K;ENSP00000356378:E658K	ENSP00000294732:E1408K	E	-	1	0	ASPM	195331761	0.869000	0.29996	0.562000	0.28370	0.882000	0.50991	1.305000	0.33493	1.124000	0.41980	0.563000	0.77884	GAG	ASPM	-	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	ENSG00000066279		0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	0.00	47	0	C	NM_018136		197065138	-1	tier1	-	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	15.56	37	7	SNP	0.428	T
ATAD2	29028	genome.wustl.edu	37	8	124333404	124333404	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:124333404T>C	ENST00000287394.5	-	28	4250	c.4143A>G	c.(4141-4143)caA>caG	p.Q1381Q	ATAD2_ENST00000521903.1_Silent_p.Q699Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1381					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTCTACCTCTTGCTCCATTT	0.328																																																	0													114.0	110.0	111.0					8																	124333404		2203	4299	6502	SO:0001819	synonymous_variant	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.4143A>G	8.37:g.124333404T>C			Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q1381	ENST00000287394.5	37	c.4143	CCDS6343.1	8																																																																																			ATAD2	-	NULL	ENSG00000156802		0.328	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2		0.00	62	0	T	NM_014109		124333404	-1			no_errors	ENST00000287394	ensembl	human	known	74_37	silent	7.69	60	5	SNP	1.000	C
ATM	472	genome.wustl.edu	37	11	108170452	108170452	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:108170452A>C	ENST00000452508.2	+	35	5206	c.5017A>C	c.(5017-5019)Agc>Cgc	p.S1673R	ATM_ENST00000278616.4_Missense_Mutation_p.S1673R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1673					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGCTGTTGGAAGCTGCTTGGG	0.333			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													101.0	109.0	106.0					11																	108170452		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5017A>C	11.37:g.108170452A>C	ENSP00000388058:p.Ser1673Arg		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S1673R	ENST00000452508.2	37	c.5017	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	A	9.558	1.117601	0.20877	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70282	-0.47;-0.47	5.47	4.35	0.52113	Armadillo-type fold (1);	0.157011	0.64402	N	0.000001	T	0.48314	0.1493	N	0.15975	0.35	0.35852	D	0.826847	B	0.06786	0.001	B	0.06405	0.002	T	0.46062	-0.9218	10	0.06625	T	0.88	.	11.119	0.48277	0.9278:0.0:0.0722:0.0	.	1673	Q13315	ATM_HUMAN	R	1673	ENSP00000278616:S1673R;ENSP00000388058:S1673R	ENSP00000278616:S1673R	S	+	1	0	ATM	107675662	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.089000	0.41672	0.921000	0.36994	0.528000	0.53228	AGC	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.333	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0.00	36	0	A	NM_000051		108170452	+1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	8.33	54	5	SNP	1.000	C
ATM	472	genome.wustl.edu	37	11	108170452	108170452	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:108170452A>C	ENST00000452508.2	+	35	5206	c.5017A>C	c.(5017-5019)Agc>Cgc	p.S1673R	ATM_ENST00000278616.4_Missense_Mutation_p.S1673R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1673					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGCTGTTGGAAGCTGCTTGGG	0.333			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													101.0	109.0	106.0					11																	108170452		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5017A>C	11.37:g.108170452A>C	ENSP00000388058:p.Ser1673Arg		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S1673R	ENST00000452508.2	37	c.5017	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	A	9.558	1.117601	0.20877	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70282	-0.47;-0.47	5.47	4.35	0.52113	Armadillo-type fold (1);	0.157011	0.64402	N	0.000001	T	0.48314	0.1493	N	0.15975	0.35	0.35852	D	0.826847	B	0.06786	0.001	B	0.06405	0.002	T	0.46062	-0.9218	10	0.06625	T	0.88	.	11.119	0.48277	0.9278:0.0:0.0722:0.0	.	1673	Q13315	ATM_HUMAN	R	1673	ENSP00000278616:S1673R;ENSP00000388058:S1673R	ENSP00000278616:S1673R	S	+	1	0	ATM	107675662	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.089000	0.41672	0.921000	0.36994	0.528000	0.53228	AGC	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.333	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0.00	69	0	A	NM_000051		108170452	+1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	8.33	54	5	SNP	1.000	C
ATP12A	479	genome.wustl.edu	37	13	25263409	25263409	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:25263409G>A	ENST00000381946.3	+	5	609	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	ATP12A_ENST00000218548.6_Missense_Mutation_p.G148S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	148					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GGTGTACTTGGGCTGTGTGCT	0.537																																					Pancreas(156;1582 1935 18898 22665 26498)												0													198.0	185.0	190.0					13																	25263409		2203	4300	6503	SO:0001583	missense	0			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.442G>A	13.37:g.25263409G>A	ENSP00000371372:p.Gly148Ser		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.G148S	ENST00000381946.3	37	c.442	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218646	0.58560	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.89552	-2.53;-2.53	5.14	5.14	0.70334	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	M	0.85462	2.755	0.80722	D	1	B;B	0.13145	0.002;0.007	B;B	0.15870	0.014;0.014	D	0.87774	0.2607	10	0.54805	T	0.06	.	16.1375	0.81497	0.0:0.0:1.0:0.0	.	148;148	P54707-2;P54707	.;AT12A_HUMAN	S	148	ENSP00000218548:G148S;ENSP00000371372:G148S	ENSP00000218548:G148S	G	+	1	0	ATP12A	24161409	1.000000	0.71417	0.997000	0.53966	0.359000	0.29487	7.194000	0.77789	2.680000	0.91292	0.561000	0.74099	GGC	ATP12A	-	tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000075673		0.537	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	-	0.00	71	0	G	NM_001676		25263409	+1	tier1	-	no_errors	ENST00000218548	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	A
ATP12A	479	genome.wustl.edu	37	13	25263409	25263409	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:25263409G>A	ENST00000381946.3	+	5	609	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	ATP12A_ENST00000218548.6_Missense_Mutation_p.G148S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	148					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GGTGTACTTGGGCTGTGTGCT	0.537																																					Pancreas(156;1582 1935 18898 22665 26498)												0													198.0	185.0	190.0					13																	25263409		2203	4300	6503	SO:0001583	missense	0			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.442G>A	13.37:g.25263409G>A	ENSP00000371372:p.Gly148Ser		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.G148S	ENST00000381946.3	37	c.442	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218646	0.58560	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.89552	-2.53;-2.53	5.14	5.14	0.70334	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	M	0.85462	2.755	0.80722	D	1	B;B	0.13145	0.002;0.007	B;B	0.15870	0.014;0.014	D	0.87774	0.2607	10	0.54805	T	0.06	.	16.1375	0.81497	0.0:0.0:1.0:0.0	.	148;148	P54707-2;P54707	.;AT12A_HUMAN	S	148	ENSP00000218548:G148S;ENSP00000371372:G148S	ENSP00000218548:G148S	G	+	1	0	ATP12A	24161409	1.000000	0.71417	0.997000	0.53966	0.359000	0.29487	7.194000	0.77789	2.680000	0.91292	0.561000	0.74099	GGC	ATP12A	-	tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000075673		0.537	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	-	0.00	99	0	G	NM_001676		25263409	+1	tier1	-	no_errors	ENST00000218548	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	A
ATP6V0A2	23545	genome.wustl.edu	37	12	124235717	124235717	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:124235717G>C	ENST00000330342.3	+	16	2244	c.1996G>C	c.(1996-1998)Gga>Cga	p.G666R	ATP6V0A2_ENST00000544833.1_5'Flank	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	666					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.G666R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CCTCTTCTTGGGAAAGCCACT	0.493																																																	1	Substitution - Missense(1)	endometrium(1)											274.0	212.0	233.0					12																	124235717		2203	4300	6503	SO:0001583	missense	0			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1996G>C	12.37:g.124235717G>C	ENSP00000332247:p.Gly666Arg		A8K026|Q6NUM0	Missense_Mutation	SNP	pfam_V-ATPase_116kDa_su	p.G666R	ENST00000330342.3	37	c.1996	CCDS9254.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428929	0.83667	.	.	ENSG00000185344	ENST00000330342	D	0.86230	-2.09	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94637	0.8271	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94486	0.7697	10	0.48119	T	0.1	-24.1509	17.1158	0.86688	0.0:0.0:1.0:0.0	.	666	Q9Y487	VPP2_HUMAN	R	666	ENSP00000332247:G666R	ENSP00000332247:G666R	G	+	1	0	ATP6V0A2	122801670	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.573000	0.90759	2.716000	0.92895	0.655000	0.94253	GGA	ATP6V0A2	-	pfam_V-ATPase_116kDa_su	ENSG00000185344		0.493	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	HGNC	protein_coding	OTTHUMT00000400765.2	-	0.00	102	0	G	NM_012463		124235717	+1	tier1	-	no_errors	ENST00000330342	ensembl	human	known	74_37	missense	15.71	59	11	SNP	1.000	C
ATP6V0A2	23545	genome.wustl.edu	37	12	124235717	124235717	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:124235717G>C	ENST00000330342.3	+	16	2244	c.1996G>C	c.(1996-1998)Gga>Cga	p.G666R	ATP6V0A2_ENST00000544833.1_5'Flank	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	666					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.G666R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CCTCTTCTTGGGAAAGCCACT	0.493																																																	1	Substitution - Missense(1)	endometrium(1)											274.0	212.0	233.0					12																	124235717		2203	4300	6503	SO:0001583	missense	0			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1996G>C	12.37:g.124235717G>C	ENSP00000332247:p.Gly666Arg		A8K026|Q6NUM0	Missense_Mutation	SNP	pfam_V-ATPase_116kDa_su	p.G666R	ENST00000330342.3	37	c.1996	CCDS9254.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428929	0.83667	.	.	ENSG00000185344	ENST00000330342	D	0.86230	-2.09	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94637	0.8271	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94486	0.7697	10	0.48119	T	0.1	-24.1509	17.1158	0.86688	0.0:0.0:1.0:0.0	.	666	Q9Y487	VPP2_HUMAN	R	666	ENSP00000332247:G666R	ENSP00000332247:G666R	G	+	1	0	ATP6V0A2	122801670	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.573000	0.90759	2.716000	0.92895	0.655000	0.94253	GGA	ATP6V0A2	-	pfam_V-ATPase_116kDa_su	ENSG00000185344		0.493	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	HGNC	protein_coding	OTTHUMT00000400765.2	-	0.00	84	0	G	NM_012463		124235717	+1	tier1	-	no_errors	ENST00000330342	ensembl	human	known	74_37	missense	15.71	59	11	SNP	1.000	C
ATP8A2	51761	genome.wustl.edu	37	13	26144928	26144928	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:26144928G>T	ENST00000381655.2	+	17	1639	c.1497G>T	c.(1495-1497)gaG>gaT	p.E499D	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.E459D	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	459					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E499D(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCATTCAGGAGTTCCTCACCC	0.567																																																	1	Substitution - Missense(1)	ovary(1)											99.0	100.0	100.0					13																	26144928		2083	4214	6297	SO:0001583	missense	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1497G>T	13.37:g.26144928G>T	ENSP00000371070:p.Glu499Asp		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E499D	ENST00000381655.2	37	c.1497	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886737	0.51908	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.63913	-0.07;-0.07	4.82	3.97	0.46021	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	L	0.50993	1.605	0.53005	D	0.999967	B;P;D;B	0.69078	0.163;0.552;0.997;0.163	B;P;D;B	0.68039	0.33;0.447;0.955;0.33	T	0.68603	-0.5365	10	0.49607	T	0.09	.	8.5203	0.33270	0.1793:0.0:0.8207:0.0	.	459;279;459;459	B7Z880;F5GZN5;Q9NTI2-3;Q9NTI2	.;.;.;AT8A2_HUMAN	D	499;459;279	ENSP00000371070:E499D;ENSP00000255283:E459D	ENSP00000255283:E459D	E	+	3	2	ATP8A2	25042928	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.040000	0.57333	1.237000	0.43756	0.563000	0.77884	GAG	ATP8A2	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000132932		0.567	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2		0.00	44	0	G	NM_016529		26144928	+1			no_errors	ENST00000381655	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76776325	76776325	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:76776325C>T	ENST00000373344.5	-	34	7355	c.7141G>A	c.(7141-7143)Gag>Aag	p.E2381K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E2343K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2381					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACATCAAGCTCCTGGCTGGCT	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0													150.0	127.0	135.0					X																	76776325		2203	4296	6499	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7141G>A	X.37:g.76776325C>T	ENSP00000362441:p.Glu2381Lys		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E2381K	ENST00000373344.5	37	c.7141	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212330	0.79240	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94497	-3.44;-3.44	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.95389	0.8503	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.985	D	0.95135	0.8258	10	0.38643	T	0.18	.	17.8303	0.88680	0.0:1.0:0.0:0.0	.	2343;2381	P46100-4;P46100	.;ATRX_HUMAN	K	2381;2343	ENSP00000362441:E2381K;ENSP00000378967:E2343K	ENSP00000362441:E2381K	E	-	1	0	ATRX	76662981	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.085000	0.76875	2.143000	0.66587	0.513000	0.50165	GAG	ATRX	-	NULL	ENSG00000085224		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	-	0.00	18	0	C	NM_000489		76776325	-1	tier1	-	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76776325	76776325	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:76776325C>T	ENST00000373344.5	-	34	7355	c.7141G>A	c.(7141-7143)Gag>Aag	p.E2381K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E2343K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2381					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACATCAAGCTCCTGGCTGGCT	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0													150.0	127.0	135.0					X																	76776325		2203	4296	6499	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7141G>A	X.37:g.76776325C>T	ENSP00000362441:p.Glu2381Lys		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E2381K	ENST00000373344.5	37	c.7141	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212330	0.79240	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94497	-3.44;-3.44	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.95389	0.8503	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.985	D	0.95135	0.8258	10	0.38643	T	0.18	.	17.8303	0.88680	0.0:1.0:0.0:0.0	.	2343;2381	P46100-4;P46100	.;ATRX_HUMAN	K	2381;2343	ENSP00000362441:E2381K;ENSP00000378967:E2343K	ENSP00000362441:E2381K	E	-	1	0	ATRX	76662981	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.085000	0.76875	2.143000	0.66587	0.513000	0.50165	GAG	ATRX	-	NULL	ENSG00000085224		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	-	0.00	27	0	C	NM_000489		76776325	-1	tier1	-	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	T
AVPR1A	552	genome.wustl.edu	37	12	63544255	63544255	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:63544255T>G	ENST00000299178.2	-	1	467	c.362A>C	c.(361-363)gAc>gCc	p.D121A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	121					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCACAGCCAGTCGGGGCCGCG	0.632																																																	0													19.0	25.0	23.0					12																	63544255		2203	4299	6502	SO:0001583	missense	0			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.362A>C	12.37:g.63544255T>G	ENSP00000299178:p.Asp121Ala			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.D121A	ENST00000299178.2	37	c.362	CCDS8965.1	12	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250888	0.80135	.	.	ENSG00000166148	ENST00000299178	T	0.18657	2.2	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53816	-0.8385	9	.	.	.	-29.8526	13.5698	0.61841	0.0:0.0:0.0:1.0	.	121	P37288	V1AR_HUMAN	A	121	ENSP00000299178:D121A	.	D	-	2	0	AVPR1A	61830522	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.902000	0.87389	1.799000	0.52666	0.374000	0.22700	GAC	AVPR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt	ENSG00000166148		0.632	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1A	HGNC	protein_coding	OTTHUMT00000406734.1	-	0.00	34	0	T			63544255	-1	tier1	-	no_errors	ENST00000299178	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G
AVPR1A	552	genome.wustl.edu	37	12	63544255	63544255	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:63544255T>G	ENST00000299178.2	-	1	467	c.362A>C	c.(361-363)gAc>gCc	p.D121A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	121					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCACAGCCAGTCGGGGCCGCG	0.632																																																	0													19.0	25.0	23.0					12																	63544255		2203	4299	6502	SO:0001583	missense	0			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.362A>C	12.37:g.63544255T>G	ENSP00000299178:p.Asp121Ala			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.D121A	ENST00000299178.2	37	c.362	CCDS8965.1	12	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250888	0.80135	.	.	ENSG00000166148	ENST00000299178	T	0.18657	2.2	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53816	-0.8385	9	.	.	.	-29.8526	13.5698	0.61841	0.0:0.0:0.0:1.0	.	121	P37288	V1AR_HUMAN	A	121	ENSP00000299178:D121A	.	D	-	2	0	AVPR1A	61830522	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.902000	0.87389	1.799000	0.52666	0.374000	0.22700	GAC	AVPR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt	ENSG00000166148		0.632	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1A	HGNC	protein_coding	OTTHUMT00000406734.1	-	0.00	35	0	T			63544255	-1	tier1	-	no_errors	ENST00000299178	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G
AXDND1	126859	genome.wustl.edu	37	1	179380295	179380295	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:179380295A>C	ENST00000367618.3	+	12	1511	c.1124A>C	c.(1123-1125)tAt>tCt	p.Y375S	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.Y375S	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	375										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTAGAAGAATATCATGACTTA	0.269																																																	0													56.0	67.0	63.0					1																	179380295		2203	4295	6498	SO:0001583	missense	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1124A>C	1.37:g.179380295A>C	ENSP00000356590:p.Tyr375Ser		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.Y375S	ENST00000367618.3	37	c.1124	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454272	0.63290	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.61158	1.25;0.13;1.4	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.71036	2.16	0.36044	D	0.840292	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.80808	-0.1217	10	0.66056	D	0.02	-14.276	11.7117	0.51628	1.0:0.0:0.0:0.0	.	333;375;375	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	S	375;333;375;309	ENSP00000356590:Y375S;ENSP00000416712:Y375S;ENSP00000391716:Y309S	ENSP00000353471:Y333S	Y	+	2	0	AXDND1	177646918	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.487000	0.60293	2.064000	0.61679	0.477000	0.44152	TAT	AXDND1	-	NULL	ENSG00000162779		0.269	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	-	0.00	143	0	A	NM_144696		179380295	+1	tier1	-	no_errors	ENST00000367618	ensembl	human	known	74_37	missense	30.77	81	36	SNP	1.000	C
AXDND1	126859	genome.wustl.edu	37	1	179380295	179380295	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:179380295A>C	ENST00000367618.3	+	12	1511	c.1124A>C	c.(1123-1125)tAt>tCt	p.Y375S	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.Y375S	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	375										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTAGAAGAATATCATGACTTA	0.269																																																	0													56.0	67.0	63.0					1																	179380295		2203	4295	6498	SO:0001583	missense	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1124A>C	1.37:g.179380295A>C	ENSP00000356590:p.Tyr375Ser		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.Y375S	ENST00000367618.3	37	c.1124	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454272	0.63290	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.61158	1.25;0.13;1.4	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.71036	2.16	0.36044	D	0.840292	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.80808	-0.1217	10	0.66056	D	0.02	-14.276	11.7117	0.51628	1.0:0.0:0.0:0.0	.	333;375;375	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	S	375;333;375;309	ENSP00000356590:Y375S;ENSP00000416712:Y375S;ENSP00000391716:Y309S	ENSP00000353471:Y333S	Y	+	2	0	AXDND1	177646918	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.487000	0.60293	2.064000	0.61679	0.477000	0.44152	TAT	AXDND1	-	NULL	ENSG00000162779		0.269	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	-	0.00	94	0	A	NM_144696		179380295	+1	tier1	-	no_errors	ENST00000367618	ensembl	human	known	74_37	missense	30.77	81	36	SNP	1.000	C
GRIK1	2897	genome.wustl.edu	37	21	30968833	30968833	+	Intron	SNP	T	T	C	rs3026024	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:30968833T>C	ENST00000399907.1	-	9	1663				BACH1_ENST00000462262.1_3'UTR|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000399913.1_Intron|GRIK1-AS2_ENST00000333765.4_3'UTR|GRIK1_ENST00000399909.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000472429.1_5'Flank|GRIK1_ENST00000309434.7_Intron|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000399914.1_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1						adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GCAGTTGTTGTCAGAGTACAA	0.433																																																	0													127.0	129.0	129.0					21																	30968833		1875	4114	5989	SO:0001627	intron_variant	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1251+12A>G	21.37:g.30968833T>C			Q13001|Q86SU9	RNA	SNP	-	NULL	ENST00000399907.1	37	NULL	CCDS42913.1	21																																																																																			BACH1	-	-	ENSG00000156273		0.433	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171979.1	-	0.00	37	0	T			30968833	+1	tier1	-	no_errors	ENST00000462262	ensembl	human	known	74_37	rna	18.18	27	6	SNP	0.015	C
GRIK1	2897	genome.wustl.edu	37	21	30968833	30968833	+	Intron	SNP	T	T	C	rs3026024	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:30968833T>C	ENST00000399907.1	-	9	1663				BACH1_ENST00000462262.1_3'UTR|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000399913.1_Intron|GRIK1-AS2_ENST00000333765.4_3'UTR|GRIK1_ENST00000399909.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000472429.1_5'Flank|GRIK1_ENST00000309434.7_Intron|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000399914.1_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1						adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GCAGTTGTTGTCAGAGTACAA	0.433																																																	0													127.0	129.0	129.0					21																	30968833		1875	4114	5989	SO:0001627	intron_variant	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1251+12A>G	21.37:g.30968833T>C			Q13001|Q86SU9	RNA	SNP	-	NULL	ENST00000399907.1	37	NULL	CCDS42913.1	21																																																																																			BACH1	-	-	ENSG00000156273		0.433	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171979.1	-	0.00	53	0	T			30968833	+1	tier1	-	no_errors	ENST00000462262	ensembl	human	known	74_37	rna	18.18	27	6	SNP	0.015	C
BBC3	27113	genome.wustl.edu	37	19	47725010	47725010	+	3'UTR	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:47725010A>G	ENST00000439096.2	-	0	911				BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000449228.1_Missense_Mutation_p.L245P|BBC3_ENST00000300880.7_Missense_Mutation_p.L85P	NM_014417.4	NP_055232.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|determination of adult lifespan (GO:0008340)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of growth (GO:0045926)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|release of cytochrome c from mitochondria (GO:0001836)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		AGGAGGTGGGAGGGGCCTGCC	0.706																																																	0													15.0	17.0	16.0					19																	47725010		2198	4298	6496	SO:0001624	3_prime_UTR_variant	0			AF332558	CCDS12697.1, CCDS46128.1, CCDS46129.1, CCDS46130.1	19q13.3-q13.4	2014-03-07							17868	protein-coding gene	gene with protein product		605854				11463392, 11572983	Standard	NM_001127240		Approved	JFY1, PUMA	uc002pgf.4	Q96PG8		ENST00000439096.2:c.*49T>C	19.37:g.47725010A>G			B9EGI3|O00171|Q96PG9	Missense_Mutation	SNP	NULL	p.L245P	ENST00000439096.2	37	c.734	CCDS12697.1	19	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821374	0.50633	.	.	ENSG00000105327	ENST00000449228;ENST00000300880	.	.	.	4.68	0.754	0.18410	.	.	.	.	.	T	0.28863	0.0716	N	0.08118	0	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.13407	0.009;0.009	T	0.04579	-1.0941	8	0.87932	D	0	.	6.6889	0.23160	0.5993:0.0:0.4007:0.0	.	245;85	E9PAW3;Q96PG8	.;.	P	245;85	.	ENSP00000300880:L85P	L	-	2	0	BBC3	52416850	0.997000	0.39634	0.997000	0.53966	0.986000	0.74619	0.129000	0.15830	-0.096000	0.12329	0.533000	0.62120	CTC	BBC3	-	NULL	ENSG00000105327		0.706	BBC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BBC3	HGNC	protein_coding	OTTHUMT00000466874.1	-	0.00	105	0	A	NM_014417		47725010	-1	tier1	-	no_errors	ENST00000449228	ensembl	human	known	74_37	missense	10.61	58	7	SNP	0.992	G
BCAR1	9564	genome.wustl.edu	37	16	75263768	75263768	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:75263768C>T	ENST00000162330.5	-	7	2380	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	BCAR1_ENST00000538440.2_Missense_Mutation_p.E752K|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000393420.6_Missense_Mutation_p.E770K|BCAR1_ENST00000418647.3_Missense_Mutation_p.E798K|BCAR1_ENST00000393422.2_Missense_Mutation_p.E770K|BCAR1_ENST00000542031.2_Missense_Mutation_p.E750K|BCAR1_ENST00000546196.1_Missense_Mutation_p.E723K|BCAR1_ENST00000535626.2_Missense_Mutation_p.E604K|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.E770K	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	752	Divergent helix-loop-helix motif.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGTTGGCCTCACACTGCTCC	0.667																																																	0													67.0	64.0	65.0					16																	75263768		2198	4300	6498	SO:0001583	missense	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2254G>A	16.37:g.75263768C>T	ENSP00000162330:p.Glu752Lys		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.E798K	ENST00000162330.5	37	c.2392	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760379	0.89932	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	4.69	4.69	0.59074	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	M	0.65498	2.005	0.51233	D	0.999916	D;D;D;D;D;D;D;D;D	0.76494	0.983;0.999;0.983;0.979;0.979;0.983;0.999;0.983;0.999	D;D;D;D;D;D;D;D;D	0.80764	0.969;0.99;0.969;0.948;0.948;0.969;0.99;0.969;0.994	T	0.48736	-0.9009	10	0.48119	T	0.1	-40.6422	16.5844	0.84724	0.0:1.0:0.0:0.0	.	770;604;798;750;770;770;752;752;542	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	K	752;770;770;752;798;604;770;750;723	ENSP00000162330:E752K;ENSP00000377074:E770K;ENSP00000392708:E770K;ENSP00000443841:E752K;ENSP00000391669:E798K;ENSP00000440370:E604K;ENSP00000377072:E770K;ENSP00000440415:E750K;ENSP00000442161:E723K	ENSP00000162330:E752K	E	-	1	0	BCAR1	73821269	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	4.646000	0.61411	2.310000	0.77875	0.563000	0.77884	GAG	BCAR1	-	pfam_CAS_DUF3513	ENSG00000050820		0.667	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	-	0.00	113	0	C	NM_014567		75263768	-1	tier1	-	no_errors	ENST00000418647	ensembl	human	known	74_37	missense	20.73	65	17	SNP	0.999	T
BCAR1	9564	genome.wustl.edu	37	16	75263768	75263768	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:75263768C>T	ENST00000162330.5	-	7	2380	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	BCAR1_ENST00000538440.2_Missense_Mutation_p.E752K|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000393420.6_Missense_Mutation_p.E770K|BCAR1_ENST00000418647.3_Missense_Mutation_p.E798K|BCAR1_ENST00000393422.2_Missense_Mutation_p.E770K|BCAR1_ENST00000542031.2_Missense_Mutation_p.E750K|BCAR1_ENST00000546196.1_Missense_Mutation_p.E723K|BCAR1_ENST00000535626.2_Missense_Mutation_p.E604K|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.E770K	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	752	Divergent helix-loop-helix motif.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGTTGGCCTCACACTGCTCC	0.667																																																	0													67.0	64.0	65.0					16																	75263768		2198	4300	6498	SO:0001583	missense	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2254G>A	16.37:g.75263768C>T	ENSP00000162330:p.Glu752Lys		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.E798K	ENST00000162330.5	37	c.2392	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760379	0.89932	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	4.69	4.69	0.59074	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	M	0.65498	2.005	0.51233	D	0.999916	D;D;D;D;D;D;D;D;D	0.76494	0.983;0.999;0.983;0.979;0.979;0.983;0.999;0.983;0.999	D;D;D;D;D;D;D;D;D	0.80764	0.969;0.99;0.969;0.948;0.948;0.969;0.99;0.969;0.994	T	0.48736	-0.9009	10	0.48119	T	0.1	-40.6422	16.5844	0.84724	0.0:1.0:0.0:0.0	.	770;604;798;750;770;770;752;752;542	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	K	752;770;770;752;798;604;770;750;723	ENSP00000162330:E752K;ENSP00000377074:E770K;ENSP00000392708:E770K;ENSP00000443841:E752K;ENSP00000391669:E798K;ENSP00000440370:E604K;ENSP00000377072:E770K;ENSP00000440415:E750K;ENSP00000442161:E723K	ENSP00000162330:E752K	E	-	1	0	BCAR1	73821269	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	4.646000	0.61411	2.310000	0.77875	0.563000	0.77884	GAG	BCAR1	-	pfam_CAS_DUF3513	ENSG00000050820		0.667	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	-	0.00	121	0	C	NM_014567		75263768	-1	tier1	-	no_errors	ENST00000418647	ensembl	human	known	74_37	missense	20.73	65	17	SNP	0.999	T
BCAS3	54828	genome.wustl.edu	37	17	59152324	59152324	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:59152324T>G	ENST00000390652.5	+	21	2149	c.2118T>G	c.(2116-2118)tcT>tcG	p.S706S	BCAS3_ENST00000408905.3_Silent_p.S691S|BCAS3_ENST00000585744.1_Silent_p.S477S|BCAS3_ENST00000407086.3_Silent_p.S691S|BCAS3_ENST00000588462.1_Silent_p.S706S|BCAS3_ENST00000589222.1_Silent_p.S691S|BCAS3_ENST00000588874.1_Silent_p.S462S	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GACATGGGTCTTACGACAGTT	0.398																																																	0													105.0	99.0	101.0					17																	59152324		1834	4091	5925	SO:0001819	synonymous_variant	0			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2118T>G	17.37:g.59152324T>G				Silent	SNP	pfam_BCAS3,pfam_WD40_repeat	p.S706	ENST00000390652.5	37	c.2118	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170444	0.21621	.	.	ENSG00000141376	ENST00000360207	.	.	.	5.83	1.13	0.20643	.	.	.	.	.	T	0.69593	0.3128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69457	-0.5140	5	0.72032	D	0.01	.	10.9893	0.47541	0.0:0.75:0.0:0.25	.	.	.	.	R	455	.	ENSP00000353336:L455R	L	+	2	0	BCAS3	56507106	0.017000	0.18338	0.998000	0.56505	0.979000	0.70002	-0.969000	0.03813	-0.007000	0.14345	-0.250000	0.11733	CTT	BCAS3	-	pfam_BCAS3	ENSG00000141376		0.398	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1	-	0.00	116	0	T	NM_017679		59152324	+1	tier1	-	no_errors	ENST00000390652	ensembl	human	known	74_37	silent	6.67	84	6	SNP	0.998	G
BCAS3	54828	genome.wustl.edu	37	17	59152324	59152324	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:59152324T>G	ENST00000390652.5	+	21	2149	c.2118T>G	c.(2116-2118)tcT>tcG	p.S706S	BCAS3_ENST00000408905.3_Silent_p.S691S|BCAS3_ENST00000585744.1_Silent_p.S477S|BCAS3_ENST00000407086.3_Silent_p.S691S|BCAS3_ENST00000588462.1_Silent_p.S706S|BCAS3_ENST00000589222.1_Silent_p.S691S|BCAS3_ENST00000588874.1_Silent_p.S462S	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GACATGGGTCTTACGACAGTT	0.398																																																	0													105.0	99.0	101.0					17																	59152324		1834	4091	5925	SO:0001819	synonymous_variant	0			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2118T>G	17.37:g.59152324T>G				Silent	SNP	pfam_BCAS3,pfam_WD40_repeat	p.S706	ENST00000390652.5	37	c.2118	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170444	0.21621	.	.	ENSG00000141376	ENST00000360207	.	.	.	5.83	1.13	0.20643	.	.	.	.	.	T	0.69593	0.3128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69457	-0.5140	5	0.72032	D	0.01	.	10.9893	0.47541	0.0:0.75:0.0:0.25	.	.	.	.	R	455	.	ENSP00000353336:L455R	L	+	2	0	BCAS3	56507106	0.017000	0.18338	0.998000	0.56505	0.979000	0.70002	-0.969000	0.03813	-0.007000	0.14345	-0.250000	0.11733	CTT	BCAS3	-	pfam_BCAS3	ENSG00000141376		0.398	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1	-	0.00	72	0	T	NM_017679		59152324	+1	tier1	-	no_errors	ENST00000390652	ensembl	human	known	74_37	silent	6.67	84	6	SNP	0.998	G
BCCIP	56647	genome.wustl.edu	37	10	127520054	127520054	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:127520054G>C	ENST00000278100.6	+	5	489	c.477G>C	c.(475-477)aaG>aaC	p.K159N	BCCIP_ENST00000368759.5_Missense_Mutation_p.K159N|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Missense_Mutation_p.K129N|BCCIP_ENST00000299130.3_Missense_Mutation_p.K159N	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	159	Interaction with BRCA2.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACTGTGAAAAGAGCATGGTTG	0.428																																																	0													127.0	118.0	121.0					10																	127520054		2203	4300	6503	SO:0001583	missense	0			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.477G>C	10.37:g.127520054G>C	ENSP00000278100:p.Lys159Asn		B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	NULL	p.K159N	ENST00000278100.6	37	c.477	CCDS7651.1	10	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951010	0.53186	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.94	4.03	0.46877	.	0.393637	0.31554	N	0.007455	T	0.50633	0.1627	L	0.56280	1.765	0.20074	N	0.999935	B;P;D;D;P	0.53885	0.444;0.942;0.963;0.963;0.737	B;P;P;P;P	0.50896	0.312;0.636;0.514;0.653;0.499	T	0.43343	-0.9397	10	0.23302	T	0.38	-0.8253	13.56	0.61784	0.0754:0.0:0.9246:0.0	.	129;159;159;159;159	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	N	159;159;159;129;159	ENSP00000278100:K159N;ENSP00000299130:K159N;ENSP00000357748:K159N;ENSP00000394758:K129N	ENSP00000278100:K159N	K	+	3	2	BCCIP	127510044	0.492000	0.26027	0.044000	0.18714	0.955000	0.61496	2.153000	0.42282	1.207000	0.43291	0.650000	0.86243	AAG	BCCIP	-	NULL	ENSG00000107949		0.428	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BCCIP	HGNC	protein_coding	OTTHUMT00000050941.1		0.00	90	0	G			127520054	+1			no_errors	ENST00000368759	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.536	C
BCKDHA	593	genome.wustl.edu	37	19	41903735	41903735	+	Start_Codon_SNP	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:41903735G>T	ENST00000269980.2	+	1	371	c.3G>T	c.(1-3)atG>atT	p.M1I	CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000457836.2_Start_Codon_SNP_p.M1I|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA|EXOSC5_ENST00000596905.1_5'Flank|EXOSC5_ENST00000221233.4_5'Flank	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	1					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TAGCCAAGATGGCGGTAGCGA	0.622																																																	0													40.0	37.0	38.0					19																	41903735		2203	4300	6503	SO:0001582	initiator_codon_variant	0			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.3G>T	19.37:g.41903735G>T	ENSP00000269980:p.Met1Ile		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase_N	p.M1I	ENST00000269980.2	37	c.3	CCDS12581.1	19	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322972	0.60634	.	.	ENSG00000248098	ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196	D;D;D	0.98105	-4.5;-4.7;-4.72	5.08	5.08	0.68730	.	.	.	.	.	D	0.97399	0.9149	.	.	.	0.80722	D	1	P;P;P	0.35872	0.525;0.525;0.525	P;P;P	0.45428	0.48;0.48;0.48	D	0.97476	1.0044	8	0.87932	D	0	-43.554	14.1715	0.65512	0.0:0.0:1.0:0.0	.	1;1;1	B4DP47;Q59EI3;P12694	.;.;ODBA_HUMAN	I	1	ENSP00000269980:M1I;ENSP00000440345:M1I;ENSP00000416000:M1I	ENSP00000269980:M1I	M	+	3	0	BCKDHA	46595575	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	3.928000	0.56506	2.805000	0.96524	0.643000	0.83706	ATG	BCKDHA	-	NULL	ENSG00000248098		0.622	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	HGNC	protein_coding	OTTHUMT00000398313.3	-	0.00	80	0	G	NM_000709	Missense_Mutation	41903735	+1	tier1	-	no_errors	ENST00000269980	ensembl	human	known	74_37	missense	18.18	45	10	SNP	1.000	T
BCKDHA	593	genome.wustl.edu	37	19	41903735	41903735	+	Start_Codon_SNP	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:41903735G>T	ENST00000269980.2	+	1	371	c.3G>T	c.(1-3)atG>atT	p.M1I	CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000457836.2_Start_Codon_SNP_p.M1I|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA|EXOSC5_ENST00000596905.1_5'Flank|EXOSC5_ENST00000221233.4_5'Flank	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	1					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TAGCCAAGATGGCGGTAGCGA	0.622																																																	0													40.0	37.0	38.0					19																	41903735		2203	4300	6503	SO:0001582	initiator_codon_variant	0			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.3G>T	19.37:g.41903735G>T	ENSP00000269980:p.Met1Ile		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase_N	p.M1I	ENST00000269980.2	37	c.3	CCDS12581.1	19	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322972	0.60634	.	.	ENSG00000248098	ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196	D;D;D	0.98105	-4.5;-4.7;-4.72	5.08	5.08	0.68730	.	.	.	.	.	D	0.97399	0.9149	.	.	.	0.80722	D	1	P;P;P	0.35872	0.525;0.525;0.525	P;P;P	0.45428	0.48;0.48;0.48	D	0.97476	1.0044	8	0.87932	D	0	-43.554	14.1715	0.65512	0.0:0.0:1.0:0.0	.	1;1;1	B4DP47;Q59EI3;P12694	.;.;ODBA_HUMAN	I	1	ENSP00000269980:M1I;ENSP00000440345:M1I;ENSP00000416000:M1I	ENSP00000269980:M1I	M	+	3	0	BCKDHA	46595575	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	3.928000	0.56506	2.805000	0.96524	0.643000	0.83706	ATG	BCKDHA	-	NULL	ENSG00000248098		0.622	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	HGNC	protein_coding	OTTHUMT00000398313.3	-	0.00	97	0	G	NM_000709	Missense_Mutation	41903735	+1	tier1	-	no_errors	ENST00000269980	ensembl	human	known	74_37	missense	18.18	45	10	SNP	1.000	T
BCL11B	64919	genome.wustl.edu	37	14	99640661	99640661	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:99640661T>A	ENST00000357195.3	-	4	2521	c.2512A>T	c.(2512-2514)Aag>Tag	p.K838*	BCL11B_ENST00000443726.2_Nonsense_Mutation_p.K644*|BCL11B_ENST00000345514.2_Nonsense_Mutation_p.K767*	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	838					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGCGTGAGCTTGCTGCTCTGC	0.622			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													76.0	61.0	66.0					14																	99640661		2203	4300	6503	SO:0001587	stop_gained	0			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2512A>T	14.37:g.99640661T>A	ENSP00000349723:p.Lys838*		Q9H162	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K838*	ENST00000357195.3	37	c.2512	CCDS9950.1	14	.	.	.	.	.	.	.	.	.	.	T	40	8.110589	0.98659	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	.	.	.	4.7	4.7	0.59300	.	0.072299	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.291	14.4363	0.67282	0.0:0.0:0.0:1.0	.	.	.	.	X	838;767;644	.	ENSP00000280435:K767X	K	-	1	0	BCL11B	98710414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.630000	0.83225	1.889000	0.54706	0.379000	0.24179	AAG	BCL11B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127152		0.622	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL11B	HGNC	protein_coding	OTTHUMT00000072332.2	-	0.00	29	0	T	NM_138576		99640661	-1	tier1	-	no_errors	ENST00000357195	ensembl	human	known	74_37	nonsense	41.18	10	7	SNP	1.000	A
BCL11B	64919	genome.wustl.edu	37	14	99640661	99640661	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:99640661T>A	ENST00000357195.3	-	4	2521	c.2512A>T	c.(2512-2514)Aag>Tag	p.K838*	BCL11B_ENST00000443726.2_Nonsense_Mutation_p.K644*|BCL11B_ENST00000345514.2_Nonsense_Mutation_p.K767*	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	838					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGCGTGAGCTTGCTGCTCTGC	0.622			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													76.0	61.0	66.0					14																	99640661		2203	4300	6503	SO:0001587	stop_gained	0			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2512A>T	14.37:g.99640661T>A	ENSP00000349723:p.Lys838*		Q9H162	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K838*	ENST00000357195.3	37	c.2512	CCDS9950.1	14	.	.	.	.	.	.	.	.	.	.	T	40	8.110589	0.98659	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	.	.	.	4.7	4.7	0.59300	.	0.072299	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.291	14.4363	0.67282	0.0:0.0:0.0:1.0	.	.	.	.	X	838;767;644	.	ENSP00000280435:K767X	K	-	1	0	BCL11B	98710414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.630000	0.83225	1.889000	0.54706	0.379000	0.24179	AAG	BCL11B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127152		0.622	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL11B	HGNC	protein_coding	OTTHUMT00000072332.2	-	0.00	38	0	T	NM_138576		99640661	-1	tier1	-	no_errors	ENST00000357195	ensembl	human	known	74_37	nonsense	41.18	10	7	SNP	1.000	A
BCLAF1	9774	genome.wustl.edu	37	6	136599656	136599656	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:136599656A>G	ENST00000531224.1	-	4	615	c.363T>C	c.(361-363)tcT>tcC	p.S121S	BCLAF1_ENST00000530767.1_Silent_p.S121S|BCLAF1_ENST00000527536.1_Silent_p.S121S|BCLAF1_ENST00000527759.1_Silent_p.S119S|BCLAF1_ENST00000392348.2_Silent_p.S119S|BCLAF1_ENST00000353331.4_Silent_p.S119S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	121					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCTTTGAGAAGAAACGGATC	0.463																																					Colon(142;1534 1789 5427 7063 28491)												0													182.0	191.0	188.0					6																	136599656		2203	4300	6503	SO:0001819	synonymous_variant	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.363T>C	6.37:g.136599656A>G			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.S121	ENST00000531224.1	37	c.363	CCDS5177.1	6																																																																																			BCLAF1	-	NULL	ENSG00000029363		0.463	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	-	0.00	110	0	A	NM_014739		136599656	-1	tier1	-	no_errors	ENST00000531224	ensembl	human	known	74_37	silent	20.00	76	19	SNP	1.000	G
BCLAF1	9774	genome.wustl.edu	37	6	136599656	136599656	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:136599656A>G	ENST00000531224.1	-	4	615	c.363T>C	c.(361-363)tcT>tcC	p.S121S	BCLAF1_ENST00000530767.1_Silent_p.S121S|BCLAF1_ENST00000527536.1_Silent_p.S121S|BCLAF1_ENST00000527759.1_Silent_p.S119S|BCLAF1_ENST00000392348.2_Silent_p.S119S|BCLAF1_ENST00000353331.4_Silent_p.S119S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	121					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCTTTGAGAAGAAACGGATC	0.463																																					Colon(142;1534 1789 5427 7063 28491)												0													182.0	191.0	188.0					6																	136599656		2203	4300	6503	SO:0001819	synonymous_variant	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.363T>C	6.37:g.136599656A>G			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.S121	ENST00000531224.1	37	c.363	CCDS5177.1	6																																																																																			BCLAF1	-	NULL	ENSG00000029363		0.463	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	-	0.00	95	0	A	NM_014739		136599656	-1	tier1	-	no_errors	ENST00000531224	ensembl	human	known	74_37	silent	20.00	76	19	SNP	1.000	G
BMP10	27302	genome.wustl.edu	37	2	69093425	69093425	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:69093425C>A	ENST00000295379.1	-	2	771	c.613G>T	c.(613-615)Gat>Tat	p.D205Y		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	205					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGATGGCATCTGTGACATCA	0.512																																																	0													147.0	124.0	132.0					2																	69093425		2203	4300	6503	SO:0001583	missense	0			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.613G>T	2.37:g.69093425C>A	ENSP00000295379:p.Asp205Tyr		Q53R17|Q6NTE0	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.D205Y	ENST00000295379.1	37	c.613	CCDS1890.1	2	.	.	.	.	.	.	.	.	.	.	C	9.248	1.039983	0.19669	.	.	ENSG00000163217	ENST00000295379	T	0.66280	-0.2	5.97	3.07	0.35406	Transforming growth factor-beta, N-terminal (1);	0.419200	0.29876	N	0.010961	T	0.47432	0.1445	L	0.36672	1.1	0.30552	N	0.765399	P	0.39071	0.658	B	0.34489	0.184	T	0.50783	-0.8787	10	0.59425	D	0.04	.	9.3026	0.37856	0.0:0.777:0.1205:0.1024	.	205	O95393	BMP10_HUMAN	Y	205	ENSP00000295379:D205Y	ENSP00000295379:D205Y	D	-	1	0	BMP10	68946929	0.702000	0.27816	0.866000	0.34008	0.446000	0.32137	1.537000	0.36083	0.347000	0.23924	-0.165000	0.13383	GAT	BMP10	-	pfam_TGF-b_N	ENSG00000163217		0.512	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP10	HGNC	protein_coding	OTTHUMT00000251768.1	-	0.00	59	0	C	NM_014482		69093425	-1	tier1	-	no_errors	ENST00000295379	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.798	A
BMP10	27302	genome.wustl.edu	37	2	69093425	69093425	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:69093425C>A	ENST00000295379.1	-	2	771	c.613G>T	c.(613-615)Gat>Tat	p.D205Y		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	205					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGATGGCATCTGTGACATCA	0.512																																																	0													147.0	124.0	132.0					2																	69093425		2203	4300	6503	SO:0001583	missense	0			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.613G>T	2.37:g.69093425C>A	ENSP00000295379:p.Asp205Tyr		Q53R17|Q6NTE0	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.D205Y	ENST00000295379.1	37	c.613	CCDS1890.1	2	.	.	.	.	.	.	.	.	.	.	C	9.248	1.039983	0.19669	.	.	ENSG00000163217	ENST00000295379	T	0.66280	-0.2	5.97	3.07	0.35406	Transforming growth factor-beta, N-terminal (1);	0.419200	0.29876	N	0.010961	T	0.47432	0.1445	L	0.36672	1.1	0.30552	N	0.765399	P	0.39071	0.658	B	0.34489	0.184	T	0.50783	-0.8787	10	0.59425	D	0.04	.	9.3026	0.37856	0.0:0.777:0.1205:0.1024	.	205	O95393	BMP10_HUMAN	Y	205	ENSP00000295379:D205Y	ENSP00000295379:D205Y	D	-	1	0	BMP10	68946929	0.702000	0.27816	0.866000	0.34008	0.446000	0.32137	1.537000	0.36083	0.347000	0.23924	-0.165000	0.13383	GAT	BMP10	-	pfam_TGF-b_N	ENSG00000163217		0.512	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP10	HGNC	protein_coding	OTTHUMT00000251768.1	-	0.00	67	0	C	NM_014482		69093425	-1	tier1	-	no_errors	ENST00000295379	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.798	A
BOD1L1	259282	genome.wustl.edu	37	4	13605188	13605188	+	Silent	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:13605188T>A	ENST00000040738.5	-	10	3471	c.3336A>T	c.(3334-3336)acA>acT	p.T1112T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1112						nucleus (GO:0005634)	DNA binding (GO:0003677)										CAGGGATCAATGTCATATCAC	0.413																																																	0													126.0	127.0	127.0					4																	13605188		2203	4300	6503	SO:0001819	synonymous_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3336A>T	4.37:g.13605188T>A			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.T1112	ENST00000040738.5	37	c.3336	CCDS3411.2	4																																																																																			BOD1L1	-	NULL	ENSG00000038219		0.413	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0.00	46	0	T	NM_148894		13605188	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	silent	31.58	26	12	SNP	0.000	A
BOD1L1	259282	genome.wustl.edu	37	4	13605188	13605188	+	Silent	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:13605188T>A	ENST00000040738.5	-	10	3471	c.3336A>T	c.(3334-3336)acA>acT	p.T1112T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1112						nucleus (GO:0005634)	DNA binding (GO:0003677)										CAGGGATCAATGTCATATCAC	0.413																																																	0													126.0	127.0	127.0					4																	13605188		2203	4300	6503	SO:0001819	synonymous_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3336A>T	4.37:g.13605188T>A			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.T1112	ENST00000040738.5	37	c.3336	CCDS3411.2	4																																																																																			BOD1L1	-	NULL	ENSG00000038219		0.413	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0.00	61	0	T	NM_148894		13605188	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	silent	31.58	26	12	SNP	0.000	A
BOLL	66037	genome.wustl.edu	37	2	198650890	198650890	+	5'Flank	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:198650890C>T	ENST00000392296.4	-	0	0				BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000430004.1_5'Flank|BOLL_ENST00000321801.7_5'UTR|BOLL_ENST00000433157.1_5'Flank|BOLL_ENST00000486206.1_5'UTR	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein						cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CGGACCCCGGCCCTGAACCTG	0.746																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747		2.37:g.198650890C>T	Exception_encountered		B4DZA4|Q0JW32|Q53T62|Q969U3	RNA	SNP	-	NULL	ENST00000392296.4	37	NULL	CCDS2325.1	2																																																																																			BOLL	-	-	ENSG00000152430		0.746	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	-	0.00	26	0	C	NM_033030		198650890	-1	tier1	-	no_errors	ENST00000486206	ensembl	human	known	74_37	rna	25.00	12	4	SNP	0.992	T
BOLL	66037	genome.wustl.edu	37	2	198650890	198650890	+	5'Flank	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:198650890C>T	ENST00000392296.4	-	0	0				BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000430004.1_5'Flank|BOLL_ENST00000321801.7_5'UTR|BOLL_ENST00000433157.1_5'Flank|BOLL_ENST00000486206.1_5'UTR	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein						cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CGGACCCCGGCCCTGAACCTG	0.746																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747		2.37:g.198650890C>T	Exception_encountered		B4DZA4|Q0JW32|Q53T62|Q969U3	RNA	SNP	-	NULL	ENST00000392296.4	37	NULL	CCDS2325.1	2																																																																																			BOLL	-	-	ENSG00000152430		0.746	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	-	0.00	40	0	C	NM_033030		198650890	-1	tier1	-	no_errors	ENST00000486206	ensembl	human	known	74_37	rna	25.00	12	4	SNP	0.992	T
BPIFC	254240	genome.wustl.edu	37	22	32841868	32841868	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:32841868G>C	ENST00000397452.1	-	5	600	c.490C>G	c.(490-492)Caa>Gaa	p.Q164E	BPIFC_ENST00000300399.3_Missense_Mutation_p.Q164E|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_Intron			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	164						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGCTCAGTTGGGCGTAGCAA	0.527																																																	0													80.0	78.0	79.0					22																	32841868		2203	4300	6503	SO:0001583	missense	0			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.490C>G	22.37:g.32841868G>C	ENSP00000380594:p.Gln164Glu		A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.Q164E	ENST00000397452.1	37	c.490	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925823	0.52759	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.05258	3.47;3.47	5.6	5.6	0.85130	.	0.498586	0.23393	N	0.048678	T	0.13157	0.0319	M	0.79123	2.44	0.80722	D	1	P	0.39576	0.679	B	0.41946	0.371	T	0.04840	-1.0923	10	0.22706	T	0.39	-2.543	15.1259	0.72483	0.0:0.0:1.0:0.0	.	164	Q8NFQ6	BPIFC_HUMAN	E	164	ENSP00000380594:Q164E;ENSP00000300399:Q164E	ENSP00000300399:Q164E	Q	-	1	0	BPIFC	31171868	1.000000	0.71417	0.994000	0.49952	0.834000	0.47266	4.484000	0.60271	2.641000	0.89580	0.650000	0.86243	CAA	BPIFC	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000184459		0.527	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	-	0.00	117	0	G	NM_174932		32841868	-1	tier1	-	no_errors	ENST00000300399	ensembl	human	known	74_37	missense	34.91	69	37	SNP	0.998	C
BPTF	2186	genome.wustl.edu	37	17	65907999	65907999	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:65907999G>T	ENST00000321892.4	+	13	4438	c.4377G>T	c.(4375-4377)aaG>aaT	p.K1459N	BPTF_ENST00000306378.6_Missense_Mutation_p.K1333N|BPTF_ENST00000424123.3_Missense_Mutation_p.K1320N|BPTF_ENST00000335221.5_Missense_Mutation_p.K1459N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1459					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGCCGTTAAAGTGTGAGTTGG	0.428																																																	0													70.0	71.0	71.0					17																	65907999		2203	4300	6503	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4377G>T	17.37:g.65907999G>T	ENSP00000315454:p.Lys1459Asn		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.K1459N	ENST00000321892.4	37	c.4377		17	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.338493	0.01287	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.65178	-0.12;-0.14;-0.13	5.28	-0.828	0.10799	.	.	.	.	.	T	0.57489	0.2057	L	0.29908	0.895	0.09310	N	1	D;P	0.56746	0.977;0.775	P;B	0.55923	0.787;0.306	T	0.50423	-0.8830	9	0.52906	T	0.07	-4.7046	6.3637	0.21443	0.6043:0.0:0.2889:0.1068	.	1333;1459	Q12830-2;Q12830-4	.;.	N	1333;1459;1459	ENSP00000307208:K1333N;ENSP00000334351:K1459N;ENSP00000315454:K1459N	ENSP00000307208:K1333N	K	+	3	2	BPTF	63338461	0.477000	0.25909	0.000000	0.03702	0.000000	0.00434	1.000000	0.29770	-0.404000	0.07610	-1.159000	0.01794	AAG	BPTF	-	NULL	ENSG00000171634		0.428	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding			0.00	84	0	G	NM_182641, NM_004459		65907999	+1			no_errors	ENST00000321892	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.000	T
BRDT	676	genome.wustl.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-	rs375773077		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																																	0																																										SO:0001651	inframe_deletion	0			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S643in_frame_del	ENST00000362005.3	37	c.1918_1920	CCDS735.1	1																																																																																			BRDT	-	NULL	ENSG00000137948		0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2		0.00	31	0	AGC	NM_207189		92447230	+1	tier1		no_errors	ENST00000362005	ensembl	human	known	74_37	in_frame_del	10.71	25	3	DEL	0.989:0.998:1.000	-
BTBD11	121551	genome.wustl.edu	37	12	107713692	107713692	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:107713692G>A	ENST00000280758.5	+	1	1503	c.975G>A	c.(973-975)ccG>ccA	p.P325P	BTBD11_ENST00000420571.2_Silent_p.P325P|BTBD11_ENST00000490090.2_Silent_p.P325P	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	325	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ccgcagtcccgccggcagccg	0.751																																																	0													4.0	6.0	5.0					12																	107713692		1677	3651	5328	SO:0001819	synonymous_variant	0			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.975G>A	12.37:g.107713692G>A			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.P325	ENST00000280758.5	37	c.975	CCDS31893.1	12																																																																																			BTBD11	-	superfamily_Histone-fold	ENSG00000151136		0.751	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1		0.00	30	0	G	NM_152322		107713692	+1			no_errors	ENST00000280758	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.000	A
HACL1	26061	genome.wustl.edu	37	3	15643304	15643304	+	5'UTR	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:15643304C>A	ENST00000321169.5	-	0	34				HACL1_ENST00000451445.2_5'Flank|BTD_ENST00000303498.5_5'UTR|HACL1_ENST00000456194.2_5'Flank|HACL1_ENST00000435217.2_5'Flank|HACL1_ENST00000457447.2_5'Flank|BTD_ENST00000449107.1_Intron|BTD_ENST00000437172.1_5'Flank|BTD_ENST00000383778.4_5'Flank	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1						cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TGAGGCCTCTCGCCATTGTCT	0.602																																																	0													18.0	19.0	19.0					3																	15643304		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.-334G>T	3.37:g.15643304C>A			B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	RNA	SNP	-	NULL	ENST00000321169.5	37	NULL	CCDS2627.1	3																																																																																			BTD	-	-	ENSG00000169814		0.602	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTD	HGNC	protein_coding	OTTHUMT00000252104.3	-	0.00	90	0	C	NM_012260		15643304	+1	tier1	-	no_errors	ENST00000471964	ensembl	human	putative	74_37	rna	15.91	37	7	SNP	0.002	A
HACL1	26061	genome.wustl.edu	37	3	15643304	15643304	+	5'UTR	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:15643304C>A	ENST00000321169.5	-	0	34				HACL1_ENST00000451445.2_5'Flank|BTD_ENST00000303498.5_5'UTR|HACL1_ENST00000456194.2_5'Flank|HACL1_ENST00000435217.2_5'Flank|HACL1_ENST00000457447.2_5'Flank|BTD_ENST00000449107.1_Intron|BTD_ENST00000437172.1_5'Flank|BTD_ENST00000383778.4_5'Flank	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1						cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TGAGGCCTCTCGCCATTGTCT	0.602																																																	0													18.0	19.0	19.0					3																	15643304		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.-334G>T	3.37:g.15643304C>A			B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	RNA	SNP	-	NULL	ENST00000321169.5	37	NULL	CCDS2627.1	3																																																																																			BTD	-	-	ENSG00000169814		0.602	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTD	HGNC	protein_coding	OTTHUMT00000252104.3	-	0.00	93	0	C	NM_012260		15643304	+1	tier1	-	no_errors	ENST00000471964	ensembl	human	putative	74_37	rna	15.91	37	7	SNP	0.002	A
BZRAP1	9256	genome.wustl.edu	37	17	56379792	56379792	+	3'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:56379792G>T	ENST00000343736.4	-	0	5786				BZRAP1_ENST00000355701.3_Missense_Mutation_p.T1854K|BZRAP1_ENST00000268893.6_3'UTR			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGACCCTTGTGTGGTGCAGCC	0.637																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.*49C>A	17.37:g.56379792G>T			O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.T1854K	ENST00000343736.4	37	c.5561	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	g	8.162	0.789724	0.16258	.	.	ENSG00000005379	ENST00000355701	T	0.04194	3.68	4.37	0.882	0.19172	.	0.384344	0.15927	U	0.237850	T	0.02888	0.0086	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43540	-0.9385	7	0.22109	T	0.4	.	2.3093	0.04182	0.1139:0.1913:0.4985:0.1963	.	.	.	.	K	1854	ENSP00000347929:T1854K	ENSP00000347929:T1854K	T	-	2	0	BZRAP1	53734791	0.004000	0.15560	0.030000	0.17652	0.044000	0.14063	1.248000	0.32827	0.402000	0.25451	0.558000	0.71614	ACA	BZRAP1	-	NULL	ENSG00000005379		0.637	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	-	0.00	108	0	G	NM_004758		56379792	-1	tier1	-	no_errors	ENST00000355701	ensembl	human	known	74_37	missense	6.49	72	5	SNP	0.000	T
BZRAP1	9256	genome.wustl.edu	37	17	56379792	56379792	+	3'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:56379792G>T	ENST00000343736.4	-	0	5786				BZRAP1_ENST00000355701.3_Missense_Mutation_p.T1854K|BZRAP1_ENST00000268893.6_3'UTR			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGACCCTTGTGTGGTGCAGCC	0.637																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.*49C>A	17.37:g.56379792G>T			O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.T1854K	ENST00000343736.4	37	c.5561	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	g	8.162	0.789724	0.16258	.	.	ENSG00000005379	ENST00000355701	T	0.04194	3.68	4.37	0.882	0.19172	.	0.384344	0.15927	U	0.237850	T	0.02888	0.0086	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43540	-0.9385	7	0.22109	T	0.4	.	2.3093	0.04182	0.1139:0.1913:0.4985:0.1963	.	.	.	.	K	1854	ENSP00000347929:T1854K	ENSP00000347929:T1854K	T	-	2	0	BZRAP1	53734791	0.004000	0.15560	0.030000	0.17652	0.044000	0.14063	1.248000	0.32827	0.402000	0.25451	0.558000	0.71614	ACA	BZRAP1	-	NULL	ENSG00000005379		0.637	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	-	0.00	116	0	G	NM_004758		56379792	-1	tier1	-	no_errors	ENST00000355701	ensembl	human	known	74_37	missense	6.49	72	5	SNP	0.000	T
C15orf54	400360	genome.wustl.edu	37	15	39544511	39544511	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:39544511A>G	ENST00000318578.3	+	2	543	c.175A>G	c.(175-177)Acg>Gcg	p.T59A	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.T59A	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	59			T -> M (in dbSNP:rs11853050). {ECO:0000269|PubMed:15489334}.							NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TCATCACATGACGGAGCTCCC	0.438																																																	0													256.0	256.0	256.0					15																	39544511		2200	4297	6497	SO:0001583	missense	0				CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.175A>G	15.37:g.39544511A>G	ENSP00000323686:p.Thr59Ala		B7ZVZ9	Missense_Mutation	SNP	NULL	p.T59A	ENST00000318578.3	37	c.175	CCDS10049.1	15	.	.	.	.	.	.	.	.	.	.	A	0.343	-0.949524	0.02304	.	.	ENSG00000175746	ENST00000318578	T	0.35789	1.29	4.38	-0.697	0.11284	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.21552	-1.0242	9	0.87932	D	0	.	3.9904	0.09535	0.5159:0.1831:0.301:0.0	.	59	Q8N8G6	CO054_HUMAN	A	59	ENSP00000323686:T59A	ENSP00000323686:T59A	T	+	1	0	C15orf54	37331803	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	0.945000	0.29056	-0.005000	0.14395	0.533000	0.62120	ACG	C15orf54	-	NULL	ENSG00000175746		0.438	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf54	HGNC	protein_coding	OTTHUMT00000252083.1	-	0.00	27	0	A	NM_207445		39544511	+1	tier1	-	no_errors	ENST00000318578	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	G
C15orf54	400360	genome.wustl.edu	37	15	39544511	39544511	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:39544511A>G	ENST00000318578.3	+	2	543	c.175A>G	c.(175-177)Acg>Gcg	p.T59A	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.T59A	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	59			T -> M (in dbSNP:rs11853050). {ECO:0000269|PubMed:15489334}.							NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TCATCACATGACGGAGCTCCC	0.438																																																	0													256.0	256.0	256.0					15																	39544511		2200	4297	6497	SO:0001583	missense	0				CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.175A>G	15.37:g.39544511A>G	ENSP00000323686:p.Thr59Ala		B7ZVZ9	Missense_Mutation	SNP	NULL	p.T59A	ENST00000318578.3	37	c.175	CCDS10049.1	15	.	.	.	.	.	.	.	.	.	.	A	0.343	-0.949524	0.02304	.	.	ENSG00000175746	ENST00000318578	T	0.35789	1.29	4.38	-0.697	0.11284	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.21552	-1.0242	9	0.87932	D	0	.	3.9904	0.09535	0.5159:0.1831:0.301:0.0	.	59	Q8N8G6	CO054_HUMAN	A	59	ENSP00000323686:T59A	ENSP00000323686:T59A	T	+	1	0	C15orf54	37331803	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	0.945000	0.29056	-0.005000	0.14395	0.533000	0.62120	ACG	C15orf54	-	NULL	ENSG00000175746		0.438	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf54	HGNC	protein_coding	OTTHUMT00000252083.1	-	0.00	37	0	A	NM_207445		39544511	+1	tier1	-	no_errors	ENST00000318578	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	G
C1orf94	84970	genome.wustl.edu	37	1	34663141	34663141	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:34663141T>A	ENST00000488417.1	+	2	756	c.636T>A	c.(634-636)tgT>tgA	p.C212*	C1orf94_ENST00000373374.3_Nonsense_Mutation_p.C22*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	212										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACATTCTGTGTGCCGCCGAGG	0.557																																																	0													81.0	72.0	75.0					1																	34663141		2203	4300	6503	SO:0001587	stop_gained	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.636T>A	1.37:g.34663141T>A	ENSP00000435634:p.Cys212*		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Nonsense_Mutation	SNP	NULL	p.C212*	ENST00000488417.1	37	c.636	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663635	0.47572	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	.	.	.	4.98	-3.97	0.04094	.	0.350325	0.24937	N	0.034405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-13.6131	7.3414	0.26640	0.0:0.5144:0.1401:0.3455	.	.	.	.	X	22;212	.	ENSP00000362472:C22X	C	+	3	2	C1orf94	34435728	0.000000	0.05858	0.193000	0.23327	0.024000	0.10985	-1.030000	0.03581	-0.647000	0.05444	0.460000	0.39030	TGT	C1orf94	-	NULL	ENSG00000142698		0.557	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	-	0.00	29	0	T	NM_032884		34663141	+1	tier1	-	no_errors	ENST00000488417	ensembl	human	known	74_37	nonsense	23.81	16	5	SNP	0.002	A
C1orf94	84970	genome.wustl.edu	37	1	34663141	34663141	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:34663141T>A	ENST00000488417.1	+	2	756	c.636T>A	c.(634-636)tgT>tgA	p.C212*	C1orf94_ENST00000373374.3_Nonsense_Mutation_p.C22*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	212										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACATTCTGTGTGCCGCCGAGG	0.557																																																	0													81.0	72.0	75.0					1																	34663141		2203	4300	6503	SO:0001587	stop_gained	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.636T>A	1.37:g.34663141T>A	ENSP00000435634:p.Cys212*		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Nonsense_Mutation	SNP	NULL	p.C212*	ENST00000488417.1	37	c.636	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663635	0.47572	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	.	.	.	4.98	-3.97	0.04094	.	0.350325	0.24937	N	0.034405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-13.6131	7.3414	0.26640	0.0:0.5144:0.1401:0.3455	.	.	.	.	X	22;212	.	ENSP00000362472:C22X	C	+	3	2	C1orf94	34435728	0.000000	0.05858	0.193000	0.23327	0.024000	0.10985	-1.030000	0.03581	-0.647000	0.05444	0.460000	0.39030	TGT	C1orf94	-	NULL	ENSG00000142698		0.557	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	-	0.00	35	0	T	NM_032884		34663141	+1	tier1	-	no_errors	ENST00000488417	ensembl	human	known	74_37	nonsense	23.81	16	5	SNP	0.002	A
C21orf91	54149	genome.wustl.edu	37	21	19168961	19168963	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:19168961_19168963delTCT	ENST00000400558.3	-	3	690_692	c.600_602delAGA	c.(598-603)gaagag>gag	p.200_201EE>E	C21orf91_ENST00000493464.1_5'Flank|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_In_Frame_Del_p.200_201EE>E|C21orf91_ENST00000284881.4_In_Frame_Del_p.200_201EE>E	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGAGATTGTCTCTTCTTTTTTCT	0.419																																																	0																																										SO:0001651	inframe_deletion	0			AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.600_602delAGA	21.37:g.19168964_19168966delTCT	ENSP00000383403:p.Glu201del			In_Frame_Del	DEL	pfam_EURL_prot	p.E201in_frame_del	ENST00000400558.3	37	c.602_600	CCDS42909.1	21																																																																																			C21orf91	-	pfam_EURL_prot	ENSG00000154642		0.419	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	C21orf91	HGNC	protein_coding	OTTHUMT00000158214.1		0.00	35	0	TCT	NM_017447		19168963	-1	tier1		no_errors	ENST00000284881	ensembl	human	known	74_37	in_frame_del	24.49	37	12	DEL	0.946:0.984:0.998	-
C21orf91	54149	genome.wustl.edu	37	21	19168961	19168963	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:19168961_19168963delTCT	ENST00000400558.3	-	3	690_692	c.600_602delAGA	c.(598-603)gaagag>gag	p.200_201EE>E	C21orf91_ENST00000493464.1_5'Flank|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_In_Frame_Del_p.200_201EE>E|C21orf91_ENST00000284881.4_In_Frame_Del_p.200_201EE>E	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGAGATTGTCTCTTCTTTTTTCT	0.419																																																	0																																										SO:0001651	inframe_deletion	0			AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.600_602delAGA	21.37:g.19168964_19168966delTCT	ENSP00000383403:p.Glu201del			In_Frame_Del	DEL	pfam_EURL_prot	p.E201in_frame_del	ENST00000400558.3	37	c.602_600	CCDS42909.1	21																																																																																			C21orf91	-	pfam_EURL_prot	ENSG00000154642		0.419	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	C21orf91	HGNC	protein_coding	OTTHUMT00000158214.1		0.00	79	0	TCT	NM_017447		19168963	-1	tier1		no_errors	ENST00000284881	ensembl	human	known	74_37	in_frame_del	24.49	37	12	DEL	0.946:0.984:0.998	-
C2orf61	285051	genome.wustl.edu	37	2	47314215	47314215	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:47314215G>C	ENST00000445927.2	-	7	805	c.679C>G	c.(679-681)Ccg>Gcg	p.P227A	RP11-761B3.1_ENST00000422269.1_Intron|C2orf61_ENST00000464527.2_Intron	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	227										endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTATGGTCGGAGACTGCTTA	0.428																																																	0													301.0	249.0	264.0					2																	47314215		692	1591	2283	SO:0001583	missense	0			AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.679C>G	2.37:g.47314215G>C	ENSP00000408527:p.Pro227Ala		H7C2Z2	Missense_Mutation	SNP	NULL	p.P227A	ENST00000445927.2	37	c.679	CCDS54356.1	2	.	.	.	.	.	.	.	.	.	.	G	0.441	-0.898394	0.02472	.	.	ENSG00000239605	ENST00000445927	T	0.30714	1.52	5.39	1.53	0.23141	.	.	.	.	.	T	0.14960	0.0361	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.32981	-0.9886	7	0.08837	T	0.75	.	5.4798	0.16717	0.1815:0.3479:0.4706:0.0	.	.	.	.	A	227	ENSP00000408527:P227A	ENSP00000408527:P227A	P	-	1	0	C2orf61	47167719	0.012000	0.17670	0.000000	0.03702	0.055000	0.15305	1.112000	0.31172	0.097000	0.17492	-0.119000	0.15052	CCG	C2orf61	-	NULL	ENSG00000239605		0.428	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf61	HGNC	protein_coding		-	0.00	45	0	G	NM_173649		47314215	-1	tier1	-	no_errors	ENST00000445927	ensembl	human	known	74_37	missense	11.43	62	8	SNP	0.000	C
C2orf61	285051	genome.wustl.edu	37	2	47314215	47314215	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:47314215G>C	ENST00000445927.2	-	7	805	c.679C>G	c.(679-681)Ccg>Gcg	p.P227A	RP11-761B3.1_ENST00000422269.1_Intron|C2orf61_ENST00000464527.2_Intron	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	227										endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTATGGTCGGAGACTGCTTA	0.428																																																	0													301.0	249.0	264.0					2																	47314215		692	1591	2283	SO:0001583	missense	0			AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.679C>G	2.37:g.47314215G>C	ENSP00000408527:p.Pro227Ala		H7C2Z2	Missense_Mutation	SNP	NULL	p.P227A	ENST00000445927.2	37	c.679	CCDS54356.1	2	.	.	.	.	.	.	.	.	.	.	G	0.441	-0.898394	0.02472	.	.	ENSG00000239605	ENST00000445927	T	0.30714	1.52	5.39	1.53	0.23141	.	.	.	.	.	T	0.14960	0.0361	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.32981	-0.9886	7	0.08837	T	0.75	.	5.4798	0.16717	0.1815:0.3479:0.4706:0.0	.	.	.	.	A	227	ENSP00000408527:P227A	ENSP00000408527:P227A	P	-	1	0	C2orf61	47167719	0.012000	0.17670	0.000000	0.03702	0.055000	0.15305	1.112000	0.31172	0.097000	0.17492	-0.119000	0.15052	CCG	C2orf61	-	NULL	ENSG00000239605		0.428	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf61	HGNC	protein_coding		-	0.00	70	0	G	NM_173649		47314215	-1	tier1	-	no_errors	ENST00000445927	ensembl	human	known	74_37	missense	11.43	62	8	SNP	0.000	C
C3P1	388503	genome.wustl.edu	37	19	10154379	10154379	+	RNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:10154379A>G	ENST00000495140.1	+	0	623							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CCAACAGCCAAGTCGAACTGA	0.473																																																	0																																												0			AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10154379A>G				RNA	SNP	-	NULL	ENST00000495140.1	37	NULL		19																																																																																			C3P1	-	-	ENSG00000167798		0.473	C3P1-002	KNOWN	basic	processed_transcript	C3P1	HGNC	pseudogene	OTTHUMT00000351284.1	-	0.00	74	0	A	NR_027300		10154379	+1	tier1	-	no_errors	ENST00000495140	ensembl	human	known	74_37	rna	9.26	49	5	SNP	0.022	G
C3P1	388503	genome.wustl.edu	37	19	10154379	10154379	+	RNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:10154379A>G	ENST00000495140.1	+	0	623							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CCAACAGCCAAGTCGAACTGA	0.473																																																	0																																												0			AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10154379A>G				RNA	SNP	-	NULL	ENST00000495140.1	37	NULL		19																																																																																			C3P1	-	-	ENSG00000167798		0.473	C3P1-002	KNOWN	basic	processed_transcript	C3P1	HGNC	pseudogene	OTTHUMT00000351284.1	-	0.00	78	0	A	NR_027300		10154379	+1	tier1	-	no_errors	ENST00000495140	ensembl	human	known	74_37	rna	9.26	49	5	SNP	0.022	G
C3orf35	339883	genome.wustl.edu	37	3	37458154	37458154	+	5'UTR	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:37458154G>C	ENST00000328376.5	+	0	780				C3orf35_ENST00000425564.2_5'UTR|C3orf35_ENST00000425932.1_5'UTR|C3orf35_ENST00000481400.1_3'UTR|C3orf35_ENST00000426078.1_5'UTR|C3orf35_ENST00000452017.2_5'UTR	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						gcagagagaagaggaagagtc	0.418																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.-200G>C	3.37:g.37458154G>C			B7ZMA0|Q8IVJ5|Q8IVJ9	RNA	SNP	-	NULL	ENST00000328376.5	37	NULL	CCDS43065.1	3																																																																																			C3orf35	-	-	ENSG00000198590		0.418	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C3orf35	HGNC	protein_coding	OTTHUMT00000342344.2	-	0.00	141	0	G	NM_178338		37458154	+1	tier1	-	no_errors	ENST00000466204	ensembl	human	known	74_37	rna	7.50	74	6	SNP	0.003	C
C3orf35	339883	genome.wustl.edu	37	3	37458154	37458154	+	5'UTR	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:37458154G>C	ENST00000328376.5	+	0	780				C3orf35_ENST00000425564.2_5'UTR|C3orf35_ENST00000425932.1_5'UTR|C3orf35_ENST00000481400.1_3'UTR|C3orf35_ENST00000426078.1_5'UTR|C3orf35_ENST00000452017.2_5'UTR	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						gcagagagaagaggaagagtc	0.418																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.-200G>C	3.37:g.37458154G>C			B7ZMA0|Q8IVJ5|Q8IVJ9	RNA	SNP	-	NULL	ENST00000328376.5	37	NULL	CCDS43065.1	3																																																																																			C3orf35	-	-	ENSG00000198590		0.418	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C3orf35	HGNC	protein_coding	OTTHUMT00000342344.2	-	0.00	75	0	G	NM_178338		37458154	+1	tier1	-	no_errors	ENST00000466204	ensembl	human	known	74_37	rna	7.50	74	6	SNP	0.003	C
C6orf47	57827	genome.wustl.edu	37	6	31626855	31626855	+	Silent	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:31626855C>G	ENST00000375911.1	-	1	1694	c.870G>C	c.(868-870)ccG>ccC	p.P290P	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	290						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						GCCCCTTTCCCGGGTCTCCCC	0.607																																																	0													87.0	94.0	92.0					6																	31626855		1509	2709	4218	SO:0001819	synonymous_variant	0			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.870G>C	6.37:g.31626855C>G			B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Silent	SNP	NULL	p.P290	ENST00000375911.1	37	c.870	CCDS34399.1	6	.	.	.	.	.	.	.	.	.	.	C	4.161	0.028271	0.08054	.	.	ENSG00000204439	ENST00000538106	.	.	.	5.25	-6.21	0.02065	.	.	.	.	.	T	0.09642	0.0237	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.28681	-1.0036	4	.	.	.	0.1211	6.2928	0.21069	0.0:0.3431:0.2375:0.4194	.	.	.	.	P	289	.	.	R	-	2	0	C6orf47	31734834	0.000000	0.05858	0.001000	0.08648	0.714000	0.41099	-2.071000	0.01378	-1.276000	0.02414	-1.002000	0.02502	CGG	C6orf47	-	NULL	ENSG00000204439		0.607	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf47	HGNC	protein_coding	OTTHUMT00000076324.1	-	0.00	75	0	C	NM_021184		31626855	-1	tier1	-	no_errors	ENST00000375911	ensembl	human	known	74_37	silent	13.56	51	8	SNP	0.000	G
C6orf47	57827	genome.wustl.edu	37	6	31626855	31626855	+	Silent	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:31626855C>G	ENST00000375911.1	-	1	1694	c.870G>C	c.(868-870)ccG>ccC	p.P290P	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	290						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						GCCCCTTTCCCGGGTCTCCCC	0.607																																																	0													87.0	94.0	92.0					6																	31626855		1509	2709	4218	SO:0001819	synonymous_variant	0			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.870G>C	6.37:g.31626855C>G			B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Silent	SNP	NULL	p.P290	ENST00000375911.1	37	c.870	CCDS34399.1	6	.	.	.	.	.	.	.	.	.	.	C	4.161	0.028271	0.08054	.	.	ENSG00000204439	ENST00000538106	.	.	.	5.25	-6.21	0.02065	.	.	.	.	.	T	0.09642	0.0237	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.28681	-1.0036	4	.	.	.	0.1211	6.2928	0.21069	0.0:0.3431:0.2375:0.4194	.	.	.	.	P	289	.	.	R	-	2	0	C6orf47	31734834	0.000000	0.05858	0.001000	0.08648	0.714000	0.41099	-2.071000	0.01378	-1.276000	0.02414	-1.002000	0.02502	CGG	C6orf47	-	NULL	ENSG00000204439		0.607	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf47	HGNC	protein_coding	OTTHUMT00000076324.1	-	0.00	95	0	C	NM_021184		31626855	-1	tier1	-	no_errors	ENST00000375911	ensembl	human	known	74_37	silent	13.56	51	8	SNP	0.000	G
C9orf41	138199	genome.wustl.edu	37	9	77631322	77631322	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:77631322G>T	ENST00000376834.3	-	3	604	c.452C>A	c.(451-453)tCt>tAt	p.S151Y	C9orf41_ENST00000376837.3_Missense_Mutation_p.S151Y|RP11-197P3.5_ENST00000455336.2_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	151										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GTCAAATGTAGATGCTGGCAT	0.388																																																	0													177.0	179.0	178.0					9																	77631322		2203	4300	6503	SO:0001583	missense	0			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.452C>A	9.37:g.77631322G>T	ENSP00000366030:p.Ser151Tyr		Q7Z383|Q8N7C5	Missense_Mutation	SNP	pfam_N2227	p.S151Y	ENST00000376834.3	37	c.452	CCDS6649.1	9	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280409	0.80692	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000451153	T;T	0.03831	3.79;3.79	5.75	5.75	0.90469	N2227-like (1);	0.055057	0.85682	D	0.000000	T	0.23926	0.0579	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.00064	-1.2151	10	0.66056	D	0.02	-15.6393	19.9522	0.97203	0.0:0.0:1.0:0.0	.	151	Q8N4J0	CI041_HUMAN	Y	151;151;90	ENSP00000366030:S151Y;ENSP00000396353:S90Y	ENSP00000366030:S151Y	S	-	2	0	C9orf41	76821142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.444000	0.97578	2.725000	0.93324	0.655000	0.94253	TCT	C9orf41	-	pfam_N2227	ENSG00000156017		0.388	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf41	HGNC	protein_coding	OTTHUMT00000052703.1	-	0.00	66	0	G	NM_152420		77631322	-1	tier1	-	no_errors	ENST00000376834	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
C9orf41	138199	genome.wustl.edu	37	9	77631322	77631322	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:77631322G>T	ENST00000376834.3	-	3	604	c.452C>A	c.(451-453)tCt>tAt	p.S151Y	C9orf41_ENST00000376837.3_Missense_Mutation_p.S151Y|RP11-197P3.5_ENST00000455336.2_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	151										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GTCAAATGTAGATGCTGGCAT	0.388																																																	0													177.0	179.0	178.0					9																	77631322		2203	4300	6503	SO:0001583	missense	0			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.452C>A	9.37:g.77631322G>T	ENSP00000366030:p.Ser151Tyr		Q7Z383|Q8N7C5	Missense_Mutation	SNP	pfam_N2227	p.S151Y	ENST00000376834.3	37	c.452	CCDS6649.1	9	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280409	0.80692	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000451153	T;T	0.03831	3.79;3.79	5.75	5.75	0.90469	N2227-like (1);	0.055057	0.85682	D	0.000000	T	0.23926	0.0579	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.00064	-1.2151	10	0.66056	D	0.02	-15.6393	19.9522	0.97203	0.0:0.0:1.0:0.0	.	151	Q8N4J0	CI041_HUMAN	Y	151;151;90	ENSP00000366030:S151Y;ENSP00000396353:S90Y	ENSP00000366030:S151Y	S	-	2	0	C9orf41	76821142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.444000	0.97578	2.725000	0.93324	0.655000	0.94253	TCT	C9orf41	-	pfam_N2227	ENSG00000156017		0.388	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf41	HGNC	protein_coding	OTTHUMT00000052703.1	-	0.00	88	0	G	NM_152420		77631322	-1	tier1	-	no_errors	ENST00000376834	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
CABP1	9478	genome.wustl.edu	37	12	121104685	121104685	+	Silent	SNP	C	C	G	rs200202796		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:121104685C>G	ENST00000316803.3	+	6	1229	c.1095C>G	c.(1093-1095)gtC>gtG	p.V365V	CABP1_ENST00000288616.3_Silent_p.V222V|CABP1_ENST00000351200.2_Silent_p.V162V|CABP1_ENST00000453000.1_Silent_p.V301V	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	365	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TAGAGTTTGTCCGGATGATGT	0.647																																																	0													53.0	43.0	46.0					12																	121104685		2203	4299	6502	SO:0001819	synonymous_variant	0			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.1095C>G	12.37:g.121104685C>G			O95663|Q8N6H5|Q9NZU8	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.V365	ENST00000316803.3	37	c.1095	CCDS31913.1	12																																																																																			CABP1	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000157782		0.647	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	HGNC	protein_coding	OTTHUMT00000345822.1	-	0.00	78	0	C	NM_001033677		121104685	+1	tier1	-	no_errors	ENST00000316803	ensembl	human	known	74_37	silent	33.33	36	18	SNP	0.985	G
CABP1	9478	genome.wustl.edu	37	12	121104685	121104685	+	Silent	SNP	C	C	G	rs200202796		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:121104685C>G	ENST00000316803.3	+	6	1229	c.1095C>G	c.(1093-1095)gtC>gtG	p.V365V	CABP1_ENST00000288616.3_Silent_p.V222V|CABP1_ENST00000351200.2_Silent_p.V162V|CABP1_ENST00000453000.1_Silent_p.V301V	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	365	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TAGAGTTTGTCCGGATGATGT	0.647																																																	0													53.0	43.0	46.0					12																	121104685		2203	4299	6502	SO:0001819	synonymous_variant	0			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.1095C>G	12.37:g.121104685C>G			O95663|Q8N6H5|Q9NZU8	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.V365	ENST00000316803.3	37	c.1095	CCDS31913.1	12																																																																																			CABP1	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000157782		0.647	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	HGNC	protein_coding	OTTHUMT00000345822.1	-	0.00	90	0	C	NM_001033677		121104685	+1	tier1	-	no_errors	ENST00000316803	ensembl	human	known	74_37	silent	33.33	36	18	SNP	0.985	G
CACNA1F	778	genome.wustl.edu	37	X	49088266	49088266	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:49088266C>T	ENST00000376265.2	-	2	210	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R50Q|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	50					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGGTTTCTTCGCTTAGGGGT	0.657																																																	0													89.0	63.0	72.0					X																	49088266		2202	4299	6501	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.149G>A	X.37:g.49088266C>T	ENSP00000365441:p.Arg50Gln		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R50Q	ENST00000376265.2	37	c.149	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224722	0.39300	.	.	ENSG00000102001	ENST00000323022;ENST00000376265	D;D	0.95918	-3.85;-3.85	4.42	4.42	0.53409	.	0.549745	0.16739	N	0.201519	D	0.92394	0.7586	L	0.61218	1.895	0.25870	N	0.983724	P;P	0.51791	0.948;0.913	B;B	0.37601	0.254;0.129	D	0.87718	0.2571	9	.	.	.	.	10.1376	0.42717	0.0:0.8957:0.0:0.1043	.	50;50	F5CIQ9;O60840	.;CAC1F_HUMAN	Q	50	ENSP00000321618:R50Q;ENSP00000365441:R50Q	.	R	-	2	0	CACNA1F	48975210	0.389000	0.25205	0.984000	0.44739	0.738000	0.42128	1.110000	0.31147	2.155000	0.67459	0.436000	0.28706	CGA	CACNA1F	-	NULL	ENSG00000102001		0.657	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	-	0.00	37	0	C	NM_005183		49088266	-1	tier1	-	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	35.14	24	13	SNP	0.927	T
CACNA1F	778	genome.wustl.edu	37	X	49088266	49088266	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:49088266C>T	ENST00000376265.2	-	2	210	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R50Q|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	50					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGGTTTCTTCGCTTAGGGGT	0.657																																																	0													89.0	63.0	72.0					X																	49088266		2202	4299	6501	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.149G>A	X.37:g.49088266C>T	ENSP00000365441:p.Arg50Gln		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R50Q	ENST00000376265.2	37	c.149	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224722	0.39300	.	.	ENSG00000102001	ENST00000323022;ENST00000376265	D;D	0.95918	-3.85;-3.85	4.42	4.42	0.53409	.	0.549745	0.16739	N	0.201519	D	0.92394	0.7586	L	0.61218	1.895	0.25870	N	0.983724	P;P	0.51791	0.948;0.913	B;B	0.37601	0.254;0.129	D	0.87718	0.2571	9	.	.	.	.	10.1376	0.42717	0.0:0.8957:0.0:0.1043	.	50;50	F5CIQ9;O60840	.;CAC1F_HUMAN	Q	50	ENSP00000321618:R50Q;ENSP00000365441:R50Q	.	R	-	2	0	CACNA1F	48975210	0.389000	0.25205	0.984000	0.44739	0.738000	0.42128	1.110000	0.31147	2.155000	0.67459	0.436000	0.28706	CGA	CACNA1F	-	NULL	ENSG00000102001		0.657	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	-	0.00	51	0	C	NM_005183		49088266	-1	tier1	-	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	35.14	24	13	SNP	0.927	T
CAMK2B	816	genome.wustl.edu	37	7	44274000	44274000	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:44274000G>T	ENST00000395749.2	-	15	1196	c.1120C>A	c.(1120-1122)Cct>Act	p.P374T	CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000350811.3_Missense_Mutation_p.P374T|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Missense_Mutation_p.P349T|CAMK2B_ENST00000457475.1_Missense_Mutation_p.P350T|CAMK2B_ENST00000440254.2_Missense_Mutation_p.P374T|CAMK2B_ENST00000358707.3_Missense_Mutation_p.P350T|CAMK2B_ENST00000502837.2_Missense_Mutation_p.P245T|CAMK2B_ENST00000395747.2_Missense_Mutation_p.P350T|CAMK2B_ENST00000346990.4_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	374					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGGCGGCAGGAGGAAGCGTC	0.617																																																	0													97.0	86.0	89.0					7																	44274000		2202	4294	6496	SO:0001583	missense	0			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1120C>A	7.37:g.44274000G>T	ENSP00000379098:p.Pro374Thr		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P374T	ENST00000395749.2	37	c.1120	CCDS5483.1	7	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591875	0.28357	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000358707;ENST00000258682;ENST00000395747	T;T;T;T;T;T;T;T	0.66815	-0.16;-0.17;-0.23;0.51;-0.16;-0.18;-0.17;-0.17	5.22	5.22	0.72569	Protein kinase-like domain (1);	.	.	.	.	T	0.56124	0.1964	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B	0.27450	0.0;0.0;0.0;0.0;0.179;0.0	B;B;B;B;B;B	0.27170	0.001;0.002;0.001;0.001;0.077;0.001	T	0.53865	-0.8378	9	0.07482	T	0.82	.	18.3739	0.90428	0.0:0.0:1.0:0.0	.	349;350;349;350;374;374	Q13554-8;Q13554-3;A4D2K5;Q13554-5;Q13554;Q13554-2	.;.;.;.;KCC2B_HUMAN;.	T	374;350;374;245;374;350;349;350	ENSP00000326375:P374T;ENSP00000390292:P350T;ENSP00000379098:P374T;ENSP00000422416:P245T;ENSP00000397937:P374T;ENSP00000351542:P350T;ENSP00000258682:P349T;ENSP00000379096:P350T	ENSP00000258682:P349T	P	-	1	0	CAMK2B	44240525	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.288000	0.51739	2.417000	0.82017	0.462000	0.41574	CCT	CAMK2B	-	superfamily_Kinase-like_dom	ENSG00000058404		0.617	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	-	0.00	112	0	G	NM_172084		44274000	-1	tier1	-	no_errors	ENST00000395749	ensembl	human	known	74_37	missense	11.65	91	12	SNP	1.000	T
CAMK2B	816	genome.wustl.edu	37	7	44274000	44274000	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:44274000G>T	ENST00000395749.2	-	15	1196	c.1120C>A	c.(1120-1122)Cct>Act	p.P374T	CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000350811.3_Missense_Mutation_p.P374T|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Missense_Mutation_p.P349T|CAMK2B_ENST00000457475.1_Missense_Mutation_p.P350T|CAMK2B_ENST00000440254.2_Missense_Mutation_p.P374T|CAMK2B_ENST00000358707.3_Missense_Mutation_p.P350T|CAMK2B_ENST00000502837.2_Missense_Mutation_p.P245T|CAMK2B_ENST00000395747.2_Missense_Mutation_p.P350T|CAMK2B_ENST00000346990.4_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	374					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGGCGGCAGGAGGAAGCGTC	0.617																																																	0													97.0	86.0	89.0					7																	44274000		2202	4294	6496	SO:0001583	missense	0			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1120C>A	7.37:g.44274000G>T	ENSP00000379098:p.Pro374Thr		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P374T	ENST00000395749.2	37	c.1120	CCDS5483.1	7	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591875	0.28357	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000358707;ENST00000258682;ENST00000395747	T;T;T;T;T;T;T;T	0.66815	-0.16;-0.17;-0.23;0.51;-0.16;-0.18;-0.17;-0.17	5.22	5.22	0.72569	Protein kinase-like domain (1);	.	.	.	.	T	0.56124	0.1964	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B	0.27450	0.0;0.0;0.0;0.0;0.179;0.0	B;B;B;B;B;B	0.27170	0.001;0.002;0.001;0.001;0.077;0.001	T	0.53865	-0.8378	9	0.07482	T	0.82	.	18.3739	0.90428	0.0:0.0:1.0:0.0	.	349;350;349;350;374;374	Q13554-8;Q13554-3;A4D2K5;Q13554-5;Q13554;Q13554-2	.;.;.;.;KCC2B_HUMAN;.	T	374;350;374;245;374;350;349;350	ENSP00000326375:P374T;ENSP00000390292:P350T;ENSP00000379098:P374T;ENSP00000422416:P245T;ENSP00000397937:P374T;ENSP00000351542:P350T;ENSP00000258682:P349T;ENSP00000379096:P350T	ENSP00000258682:P349T	P	-	1	0	CAMK2B	44240525	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.288000	0.51739	2.417000	0.82017	0.462000	0.41574	CCT	CAMK2B	-	superfamily_Kinase-like_dom	ENSG00000058404		0.617	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	-	0.00	99	0	G	NM_172084		44274000	-1	tier1	-	no_errors	ENST00000395749	ensembl	human	known	74_37	missense	11.65	91	12	SNP	1.000	T
CAPN8	388743	genome.wustl.edu	37	1	223816399	223816399	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:223816399A>T	ENST00000366873.2	-	3	467	c.391T>A	c.(391-393)Ttc>Atc	p.F131I	CAPN8_ENST00000366872.5_Missense_Mutation_p.F131I			A6NHC0	CAN8_HUMAN	calpain 8	131	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)	4						TTCTCCTGGAAGTCCTGGTCC	0.552																																																	0													76.0	82.0	80.0					1																	223816399		692	1591	2283	SO:0001583	missense	0				CCDS73038.1	1q41	2013-01-10	2007-02-21		ENSG00000203697	ENSG00000203697		"""EF-hand domain containing"""	1485	protein-coding gene	gene with protein product			"""calpain 8 (nCL-2)"""			7690035, 8889549	Standard	NM_001143962		Approved	nCL-2	uc009xee.2	A6NHC0	OTTHUMG00000037378	ENST00000366873.2:c.391T>A	1.37:g.223816399A>T	ENSP00000355838:p.Phe131Ile		B2RXL2	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.F131I	ENST00000366873.2	37	c.391		1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437947	0.83885	.	.	ENSG00000203697	ENST00000366872;ENST00000419193;ENST00000366873	D;D;D	0.87887	-2.31;-2.31;-2.31	5.1	5.1	0.69264	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96649	0.9480	10	0.87932	D	0	.	14.5495	0.68057	1.0:0.0:0.0:0.0	.	131	A6NHC0	CAN8_HUMAN	I	131	ENSP00000355837:F131I;ENSP00000401665:F131I;ENSP00000355838:F131I	ENSP00000355837:F131I	F	-	1	0	CAPN8	221883022	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	9.281000	0.95811	1.913000	0.55393	0.379000	0.24179	TTC	CAPN8	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000203697		0.552	CAPN8-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CAPN8	HGNC	protein_coding	OTTHUMT00000171394.3	-	0.00	114	0	A	NM_001143962		223816399	-1	tier1	-	no_errors	ENST00000366872	ensembl	human	known	74_37	missense	9.46	66	7	SNP	1.000	T
CAPN8	388743	genome.wustl.edu	37	1	223816399	223816399	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:223816399A>T	ENST00000366873.2	-	3	467	c.391T>A	c.(391-393)Ttc>Atc	p.F131I	CAPN8_ENST00000366872.5_Missense_Mutation_p.F131I			A6NHC0	CAN8_HUMAN	calpain 8	131	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)	4						TTCTCCTGGAAGTCCTGGTCC	0.552																																																	0													76.0	82.0	80.0					1																	223816399		692	1591	2283	SO:0001583	missense	0				CCDS73038.1	1q41	2013-01-10	2007-02-21		ENSG00000203697	ENSG00000203697		"""EF-hand domain containing"""	1485	protein-coding gene	gene with protein product			"""calpain 8 (nCL-2)"""			7690035, 8889549	Standard	NM_001143962		Approved	nCL-2	uc009xee.2	A6NHC0	OTTHUMG00000037378	ENST00000366873.2:c.391T>A	1.37:g.223816399A>T	ENSP00000355838:p.Phe131Ile		B2RXL2	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.F131I	ENST00000366873.2	37	c.391		1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437947	0.83885	.	.	ENSG00000203697	ENST00000366872;ENST00000419193;ENST00000366873	D;D;D	0.87887	-2.31;-2.31;-2.31	5.1	5.1	0.69264	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96649	0.9480	10	0.87932	D	0	.	14.5495	0.68057	1.0:0.0:0.0:0.0	.	131	A6NHC0	CAN8_HUMAN	I	131	ENSP00000355837:F131I;ENSP00000401665:F131I;ENSP00000355838:F131I	ENSP00000355837:F131I	F	-	1	0	CAPN8	221883022	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	9.281000	0.95811	1.913000	0.55393	0.379000	0.24179	TTC	CAPN8	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000203697		0.552	CAPN8-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CAPN8	HGNC	protein_coding	OTTHUMT00000171394.3	-	0.00	80	0	A	NM_001143962		223816399	-1	tier1	-	no_errors	ENST00000366872	ensembl	human	known	74_37	missense	9.46	66	7	SNP	1.000	T
CAPN2	824	genome.wustl.edu	37	1	223949290	223949290	+	Missense_Mutation	SNP	G	G	T	rs369320951		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:223949290G>T	ENST00000295006.5	+	13	1846	c.1537G>T	c.(1537-1539)Gat>Tat	p.D513Y	CAPN2_ENST00000433674.2_Missense_Mutation_p.D435Y|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	513	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)	p.D513N(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CAGAGCTGTCGATGATGAAAT	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											122.0	113.0	116.0					1																	223949290		2203	4300	6503	SO:0001583	missense	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1537G>T	1.37:g.223949290G>T	ENSP00000295006:p.Asp513Tyr		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D513Y	ENST00000295006.5	37	c.1537	CCDS31035.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039242	0.75617	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.89552	-2.53;-2.53	4.91	4.91	0.64330	Peptidase C2, calpain, large subunit, domain III (1);	0.130940	0.56097	D	0.000031	D	0.93223	0.7841	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.994	D;D;P	0.70487	0.938;0.969;0.891	D	0.93949	0.7230	10	0.87932	D	0	.	18.4709	0.90774	0.0:0.0:1.0:0.0	.	435;96;513	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	Y	435;513;542	ENSP00000413158:D435Y;ENSP00000295006:D513Y	ENSP00000295006:D513Y	D	+	1	0	CAPN2	222015913	1.000000	0.71417	0.722000	0.30670	0.879000	0.50718	7.161000	0.77505	2.439000	0.82584	0.655000	0.94253	GAT	CAPN2	-	superfamily_Calpain_domain_III	ENSG00000162909		0.433	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1		0.00	75	0	G	NM_001748		223949290	+1			no_errors	ENST00000295006	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.997	T
CASP16	197350	genome.wustl.edu	37	16	3197439	3197439	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:3197439C>A	ENST00000428155.1	+	6	826	c.100C>A	c.(100-102)Cag>Aag	p.Q34K				P0CB46	CASPG_HUMAN	caspase 16, apoptosis-related cysteine peptidase (putative)	34					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)	cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)										CCAGGTGCTGCAGGGCCGCCC	0.701																																																	0																																										SO:0001583	missense	0					16p13.3	2014-04-01			ENSG00000228146	ENSG00000228146			27290	protein-coding gene	gene with protein product						18281271	Standard	XM_003403459		Approved		uc002cuf.1	P0CB46	OTTHUMG00000177520	ENST00000428155.1:c.100C>A	16.37:g.3197439C>A	ENSP00000400592:p.Gln34Lys			Missense_Mutation	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20	p.Q34K	ENST00000428155.1	37	c.100		16	.	.	.	.	.	.	.	.	.	.	C	2.924	-0.222448	0.06061	.	.	ENSG00000228146	ENST00000428155	.	.	.	5.07	-1.16	0.09678	Peptidase C14, caspase catalytic (1);Peptidase C14, ICE, catalytic subunit p20 (1);	.	.	.	.	T	0.15219	0.0367	N	0.17345	0.48	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.32613	-0.9900	8	0.02654	T	1	.	4.7489	0.13050	0.2498:0.4957:0.0:0.2544	.	34	P0CB46	CS14L_HUMAN	K	101	.	ENSP00000400592:Q101K	Q	+	1	0	AC108134.2	3137440	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.573000	0.05874	-0.369000	0.08028	-1.579000	0.00862	CAG	CASP16	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000228146		0.701	CASP16-001	KNOWN	basic|appris_principal	protein_coding	CASP16	HGNC	protein_coding	OTTHUMT00000437342.1	-	0.00	37	0	C	XM_003403459		3197439	+1	tier1	-	no_errors	ENST00000428155	ensembl	human	known	74_37	missense	52.17	10	12	SNP	0.001	A
CASP16	197350	genome.wustl.edu	37	16	3197439	3197439	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:3197439C>A	ENST00000428155.1	+	6	826	c.100C>A	c.(100-102)Cag>Aag	p.Q34K				P0CB46	CASPG_HUMAN	caspase 16, apoptosis-related cysteine peptidase (putative)	34					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)	cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)										CCAGGTGCTGCAGGGCCGCCC	0.701																																																	0																																										SO:0001583	missense	0					16p13.3	2014-04-01			ENSG00000228146	ENSG00000228146			27290	protein-coding gene	gene with protein product						18281271	Standard	XM_003403459		Approved		uc002cuf.1	P0CB46	OTTHUMG00000177520	ENST00000428155.1:c.100C>A	16.37:g.3197439C>A	ENSP00000400592:p.Gln34Lys			Missense_Mutation	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20	p.Q34K	ENST00000428155.1	37	c.100		16	.	.	.	.	.	.	.	.	.	.	C	2.924	-0.222448	0.06061	.	.	ENSG00000228146	ENST00000428155	.	.	.	5.07	-1.16	0.09678	Peptidase C14, caspase catalytic (1);Peptidase C14, ICE, catalytic subunit p20 (1);	.	.	.	.	T	0.15219	0.0367	N	0.17345	0.48	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.32613	-0.9900	8	0.02654	T	1	.	4.7489	0.13050	0.2498:0.4957:0.0:0.2544	.	34	P0CB46	CS14L_HUMAN	K	101	.	ENSP00000400592:Q101K	Q	+	1	0	AC108134.2	3137440	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.573000	0.05874	-0.369000	0.08028	-1.579000	0.00862	CAG	CASP16	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000228146		0.701	CASP16-001	KNOWN	basic|appris_principal	protein_coding	CASP16	HGNC	protein_coding	OTTHUMT00000437342.1	-	0.00	41	0	C	XM_003403459		3197439	+1	tier1	-	no_errors	ENST00000428155	ensembl	human	known	74_37	missense	52.17	10	12	SNP	0.001	A
CBL	867	genome.wustl.edu	37	11	119146741	119146741	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:119146741C>G	ENST00000264033.4	+	6	1280	c.904C>G	c.(904-906)Cag>Gag	p.Q302E		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	302	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y291_F336del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCGTCTGGGTCAGTGGGCTAT	0.458			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											236.0	205.0	215.0					11																	119146741		2199	4295	6494	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.904C>G	11.37:g.119146741C>G	ENSP00000264033:p.Gln302Glu		A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.Q302E	ENST00000264033.4	37	c.904	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156934	0.78114	.	.	ENSG00000110395	ENST00000264033	T	0.80738	-1.41	5.78	5.78	0.91487	Adaptor protein Cbl, PTB domain (1);SH2 motif (1);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.91321	0.7263	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91853	0.5493	10	0.87932	D	0	-21.8413	20.0124	0.97464	0.0:1.0:0.0:0.0	.	302	P22681	CBL_HUMAN	E	302	ENSP00000264033:Q302E	ENSP00000264033:Q302E	Q	+	1	0	CBL	118651951	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.749000	0.94314	0.655000	0.94253	CAG	CBL	-	pfam_Adaptor_Cbl_SH2-like	ENSG00000110395		0.458	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	-	0.00	102	0	C	NM_005188		119146741	+1	tier1	-	no_errors	ENST00000264033	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	G
CBL	867	genome.wustl.edu	37	11	119146741	119146741	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:119146741C>G	ENST00000264033.4	+	6	1280	c.904C>G	c.(904-906)Cag>Gag	p.Q302E		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	302	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y291_F336del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCGTCTGGGTCAGTGGGCTAT	0.458			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											236.0	205.0	215.0					11																	119146741		2199	4295	6494	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.904C>G	11.37:g.119146741C>G	ENSP00000264033:p.Gln302Glu		A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.Q302E	ENST00000264033.4	37	c.904	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156934	0.78114	.	.	ENSG00000110395	ENST00000264033	T	0.80738	-1.41	5.78	5.78	0.91487	Adaptor protein Cbl, PTB domain (1);SH2 motif (1);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.91321	0.7263	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91853	0.5493	10	0.87932	D	0	-21.8413	20.0124	0.97464	0.0:1.0:0.0:0.0	.	302	P22681	CBL_HUMAN	E	302	ENSP00000264033:Q302E	ENSP00000264033:Q302E	Q	+	1	0	CBL	118651951	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.749000	0.94314	0.655000	0.94253	CAG	CBL	-	pfam_Adaptor_Cbl_SH2-like	ENSG00000110395		0.458	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	-	0.00	64	0	C	NM_005188		119146741	+1	tier1	-	no_errors	ENST00000264033	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	G
CCDC7	79741	genome.wustl.edu	37	10	32833185	32833185	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:32833185C>T	ENST00000362006.5	+	14	1633	c.1090C>T	c.(1090-1092)Cca>Tca	p.P364S	CCDC7_ENST00000277657.6_Missense_Mutation_p.P364S|C10orf68_ENST00000572165.1_3'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	364										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GAAGATGTCTCCAGAAAAAGA	0.308																																																	0													71.0	75.0	74.0					10																	32833185		2203	4287	6490	SO:0001583	missense	0			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1090C>T	10.37:g.32833185C>T	ENSP00000355078:p.Pro364Ser		Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	NULL	p.P364S	ENST00000362006.5	37	c.1090	CCDS7173.1	10	.	.	.	.	.	.	.	.	.	.	C	2.547	-0.304993	0.05495	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.58358	1.47;1.47;0.34	3.19	-6.38	0.01957	.	.	.	.	.	T	0.25606	0.0623	N	0.24115	0.695	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.26950	-1.0088	9	0.09084	T	0.74	-18.3038	2.8644	0.05596	0.1186:0.4422:0.1139:0.3252	.	364	Q96M83	CCDC7_HUMAN	S	364;364;33	ENSP00000277657:P364S;ENSP00000355078:P364S;ENSP00000401923:P33S	ENSP00000277657:P364S	P	+	1	0	CCDC7	32873191	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.799000	0.00184	-2.321000	0.00641	-0.813000	0.03139	CCA	CCDC7	-	NULL	ENSG00000216937		0.308	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1		0.00	40	0	C	NM_145023		32833185	+1			no_errors	ENST00000277657	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.000	T
CCDC74B	91409	genome.wustl.edu	37	2	130900418	130900418	+	Intron	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:130900418G>A	ENST00000310463.6	-	2	433				CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409234.3_3'UTR|CCDC74B_ENST00000392984.3_Silent_p.S46S|CCDC74B_ENST00000409943.3_Intron	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B											endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					ATCCCTGGATGGAGTGTGTCC	0.597																																																	0																																										SO:0001627	intron_variant	0				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.295+423C>T	2.37:g.130900418G>A			Q6NW18	Silent	SNP	NULL	p.S46	ENST00000310463.6	37	c.138	CCDS2155.1	2																																																																																			CCDC74B	-	NULL	ENSG00000152076		0.597	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	-	0.00	84	0	G	NM_207310		130900418	-1	tier1	-	no_errors	ENST00000392984	ensembl	human	known	74_37	silent	16.22	62	12	SNP	0.000	A
CCDC74B	91409	genome.wustl.edu	37	2	130900418	130900418	+	Intron	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:130900418G>A	ENST00000310463.6	-	2	433				CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409234.3_3'UTR|CCDC74B_ENST00000392984.3_Silent_p.S46S|CCDC74B_ENST00000409943.3_Intron	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B											endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					ATCCCTGGATGGAGTGTGTCC	0.597																																																	0																																										SO:0001627	intron_variant	0				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.295+423C>T	2.37:g.130900418G>A			Q6NW18	Silent	SNP	NULL	p.S46	ENST00000310463.6	37	c.138	CCDS2155.1	2																																																																																			CCDC74B	-	NULL	ENSG00000152076		0.597	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	-	0.00	94	0	G	NM_207310		130900418	-1	tier1	-	no_errors	ENST00000392984	ensembl	human	known	74_37	silent	16.22	62	12	SNP	0.000	A
CCDC89	220388	genome.wustl.edu	37	11	85396707	85396707	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:85396707T>G	ENST00000316398.3	-	1	613	c.467A>C	c.(466-468)aAg>aCg	p.K156T	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	156						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGCCTCAGCTTCTCATTCTC	0.532																																																	0													90.0	85.0	86.0					11																	85396707		2203	4299	6502	SO:0001583	missense	0			AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.467A>C	11.37:g.85396707T>G	ENSP00000320649:p.Lys156Thr			Missense_Mutation	SNP	NULL	p.K156T	ENST00000316398.3	37	c.467	CCDS8270.1	11	.	.	.	.	.	.	.	.	.	.	t	11.73	1.726984	0.30593	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.79	3.3	0.37823	.	0.493589	0.18898	N	0.128118	T	0.29684	0.0741	L	0.53249	1.67	0.24081	N	0.995946	P	0.37276	0.589	B	0.39027	0.288	T	0.17561	-1.0365	8	.	.	.	-21.7925	2.9618	0.05895	0.2388:0.2988:0.0:0.4625	.	156	Q8N998	CCD89_HUMAN	T	156	.	.	K	-	2	0	CCDC89	85074355	0.000000	0.05858	0.997000	0.53966	0.650000	0.38633	-0.944000	0.03913	0.983000	0.38602	0.529000	0.55759	AAG	CCDC89	-	NULL	ENSG00000179071		0.532	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC89	HGNC	protein_coding	OTTHUMT00000392182.1	-	0.00	34	0	T	NM_152723		85396707	-1	tier1	-	no_errors	ENST00000316398	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.996	G
CCDC89	220388	genome.wustl.edu	37	11	85396707	85396707	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:85396707T>G	ENST00000316398.3	-	1	613	c.467A>C	c.(466-468)aAg>aCg	p.K156T	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	156						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGCCTCAGCTTCTCATTCTC	0.532																																																	0													90.0	85.0	86.0					11																	85396707		2203	4299	6502	SO:0001583	missense	0			AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.467A>C	11.37:g.85396707T>G	ENSP00000320649:p.Lys156Thr			Missense_Mutation	SNP	NULL	p.K156T	ENST00000316398.3	37	c.467	CCDS8270.1	11	.	.	.	.	.	.	.	.	.	.	t	11.73	1.726984	0.30593	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.79	3.3	0.37823	.	0.493589	0.18898	N	0.128118	T	0.29684	0.0741	L	0.53249	1.67	0.24081	N	0.995946	P	0.37276	0.589	B	0.39027	0.288	T	0.17561	-1.0365	8	.	.	.	-21.7925	2.9618	0.05895	0.2388:0.2988:0.0:0.4625	.	156	Q8N998	CCD89_HUMAN	T	156	.	.	K	-	2	0	CCDC89	85074355	0.000000	0.05858	0.997000	0.53966	0.650000	0.38633	-0.944000	0.03913	0.983000	0.38602	0.529000	0.55759	AAG	CCDC89	-	NULL	ENSG00000179071		0.532	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC89	HGNC	protein_coding	OTTHUMT00000392182.1	-	0.00	45	0	T	NM_152723		85396707	-1	tier1	-	no_errors	ENST00000316398	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.996	G
CCDC93	54520	genome.wustl.edu	37	2	118693100	118693100	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:118693100C>A	ENST00000376300.2	-	22	1836	c.1699G>T	c.(1699-1701)Gtg>Ttg	p.V567L	HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.V566L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	567										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATTCCTTCCACAATCTGTTCC	0.483																																																	0													103.0	98.0	100.0					2																	118693100		2203	4300	6503	SO:0001583	missense	0			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1699G>T	2.37:g.118693100C>A	ENSP00000365477:p.Val567Leu		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	pfam_DUF2037	p.V567L	ENST00000376300.2	37	c.1699	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551758	0.86127	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.65178	-0.14;-0.14	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	M	0.70595	2.14	0.58432	D	0.999999	P	0.36647	0.563	B	0.41036	0.346	T	0.64879	-0.6303	10	0.31617	T	0.26	-17.2489	17.9273	0.88987	0.0:1.0:0.0:0.0	.	567	Q567U6	CCD93_HUMAN	L	567;566	ENSP00000365477:V567L;ENSP00000324135:V566L	ENSP00000324135:V566L	V	-	1	0	CCDC93	118409570	1.000000	0.71417	0.971000	0.41717	0.887000	0.51463	7.108000	0.77055	2.678000	0.91216	0.563000	0.77884	GTG	CCDC93	-	NULL	ENSG00000125633		0.483	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	-	0.00	34	0	C	NM_019044		118693100	-1	tier1	-	no_errors	ENST00000376300	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	A
CCL4L2	388372	genome.wustl.edu	37	17	34641385	34641385	+	Intron	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:34641385G>T	ENST00000394465.2	+	3	508				TBC1D3H_ENST00000400684.4_Intron|TBC1D3H_ENST00000535446.1_Intron|CCL4L2_ENST00000378342.4_Missense_Mutation_p.K67N|CCL4L2_ENST00000482104.1_3'UTR|TBC1D3C_ENST00000308078.7_Intron|CCL4L2_ENST00000394463.2_Missense_Mutation_p.R82M|CCL4L2_ENST00000339270.6_Intron|TBC1D3C_ENST00000451448.2_Intron			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2						cell chemotaxis (GO:0060326)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ccacaggcaagggataaagcc	0.532																																																	0																																										SO:0001627	intron_variant	0					17q12	2005-08-09			ENSG00000197262			"""Chemokine ligands"""	24066	protein-coding gene	gene with protein product		603782				15028295	Standard	NM_001291468		Approved		uc010cuj.3	Q8NHW4	OTTHUMG00000133066	ENST00000394465.2:c.192-65G>T	17.37:g.34641385G>T			B2RUZ3|B7ZMA8|Q50EM1|Q50EM2|Q50EM3|Q50EM4|Q50EM5|Q50EM6|Q50EM7|Q50EM8|Q569J2|Q6NSB0	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R82M	ENST00000394465.2	37	c.245	CCDS11311.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.00|12.00	1.805435|1.805435	0.31961|0.31961	.|.	.|.	ENSG00000197262|ENSG00000197262	ENST00000378342|ENST00000394463	T|T	0.38560|0.09538	1.13|2.97	1.98|1.98	-3.48|-3.48	0.04739|0.04739	.|.	.|.	.|.	.|.	.|.	T|T	0.10937|0.10937	0.0267|0.0267	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33752|0.33752	-0.9856|-0.9856	6|6	0.87932|0.72032	D|D	0|0.01	.|.	5.7982|5.7982	0.18399|0.18399	0.4742:0.0:0.5258:0.0|0.4742:0.0:0.5258:0.0	.|.	.|.	.|.	.|.	N|M	67|82	ENSP00000367593:K67N|ENSP00000377976:R82M	ENSP00000367593:K67N|ENSP00000377976:R82M	K|R	+|+	3|2	2|0	CCL4L2|CCL4L2	31665498|31665498	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.249000|0.249000	0.25844|0.25844	-0.339000|-0.339000	0.07832|0.07832	-0.788000|-0.788000	0.04504|0.04504	-0.886000|-0.886000	0.02939|0.02939	AAG|AGG	CCL4L2	-	smart_Chemokine_IL8-like_dom	ENSG00000197262		0.532	CCL4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL4L2	HGNC	protein_coding	OTTHUMT00000256699.1	-	0.00	55	0	G	NM_207007		34641385	+1	tier1	-	no_errors	ENST00000394463	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.000	T
CCL4L2	388372	genome.wustl.edu	37	17	34641385	34641385	+	Intron	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:34641385G>T	ENST00000394465.2	+	3	508				TBC1D3H_ENST00000400684.4_Intron|TBC1D3H_ENST00000535446.1_Intron|CCL4L2_ENST00000378342.4_Missense_Mutation_p.K67N|CCL4L2_ENST00000482104.1_3'UTR|TBC1D3C_ENST00000308078.7_Intron|CCL4L2_ENST00000394463.2_Missense_Mutation_p.R82M|CCL4L2_ENST00000339270.6_Intron|TBC1D3C_ENST00000451448.2_Intron			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2						cell chemotaxis (GO:0060326)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ccacaggcaagggataaagcc	0.532																																																	0																																										SO:0001627	intron_variant	0					17q12	2005-08-09			ENSG00000197262			"""Chemokine ligands"""	24066	protein-coding gene	gene with protein product		603782				15028295	Standard	NM_001291468		Approved		uc010cuj.3	Q8NHW4	OTTHUMG00000133066	ENST00000394465.2:c.192-65G>T	17.37:g.34641385G>T			B2RUZ3|B7ZMA8|Q50EM1|Q50EM2|Q50EM3|Q50EM4|Q50EM5|Q50EM6|Q50EM7|Q50EM8|Q569J2|Q6NSB0	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R82M	ENST00000394465.2	37	c.245	CCDS11311.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.00|12.00	1.805435|1.805435	0.31961|0.31961	.|.	.|.	ENSG00000197262|ENSG00000197262	ENST00000378342|ENST00000394463	T|T	0.38560|0.09538	1.13|2.97	1.98|1.98	-3.48|-3.48	0.04739|0.04739	.|.	.|.	.|.	.|.	.|.	T|T	0.10937|0.10937	0.0267|0.0267	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33752|0.33752	-0.9856|-0.9856	6|6	0.87932|0.72032	D|D	0|0.01	.|.	5.7982|5.7982	0.18399|0.18399	0.4742:0.0:0.5258:0.0|0.4742:0.0:0.5258:0.0	.|.	.|.	.|.	.|.	N|M	67|82	ENSP00000367593:K67N|ENSP00000377976:R82M	ENSP00000367593:K67N|ENSP00000377976:R82M	K|R	+|+	3|2	2|0	CCL4L2|CCL4L2	31665498|31665498	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.249000|0.249000	0.25844|0.25844	-0.339000|-0.339000	0.07832|0.07832	-0.788000|-0.788000	0.04504|0.04504	-0.886000|-0.886000	0.02939|0.02939	AAG|AGG	CCL4L2	-	smart_Chemokine_IL8-like_dom	ENSG00000197262		0.532	CCL4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL4L2	HGNC	protein_coding	OTTHUMT00000256699.1	-	0.00	57	0	G	NM_207007		34641385	+1	tier1	-	no_errors	ENST00000394463	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.000	T
CCNJL	79616	genome.wustl.edu	37	5	159682680	159682680	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:159682680C>T	ENST00000393977.3	-	6	1048	c.763G>A	c.(763-765)Gct>Act	p.A255T	CCNJL_ENST00000519673.1_Missense_Mutation_p.A207T|CCNJL_ENST00000541762.1_Missense_Mutation_p.A206T|CCNJL_ENST00000257536.7_Missense_Mutation_p.A207T|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	255						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGCCGCAGCGACCACAGAA	0.557																																																	0													65.0	72.0	70.0					5																	159682680		1915	4118	6033	SO:0001583	missense	0			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.763G>A	5.37:g.159682680C>T	ENSP00000377547:p.Ala255Thr		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A255T	ENST00000393977.3	37	c.763	CCDS4350.2	5	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741161	0.89573	.	.	ENSG00000135083	ENST00000393977;ENST00000257536;ENST00000519673;ENST00000541762	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.61	5.61	0.85477	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	0.975;0.995;1.0	P;P;D	0.97110	0.692;0.902;1.0	D	0.89171	0.3537	10	0.87932	D	0	-13.5249	19.2215	0.93799	0.0:1.0:0.0:0.0	.	207;207;255	E7EN43;B4DZA8;Q8IV13	.;.;CCNJL_HUMAN	T	255;207;207;206	ENSP00000377547:A255T;ENSP00000257536:A207T;ENSP00000427960:A207T;ENSP00000446367:A206T	ENSP00000257536:A207T	A	-	1	0	CCNJL	159615258	1.000000	0.71417	0.717000	0.30585	0.435000	0.31806	7.696000	0.84270	2.646000	0.89796	0.655000	0.94253	GCT	CCNJL	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000135083		0.557	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1	-	0.00	39	0	C	NM_024565		159682680	-1	tier1	-	no_errors	ENST00000393977	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	T
CD53	963	genome.wustl.edu	37	1	111442367	111442367	+	3'UTR	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:111442367T>A	ENST00000271324.5	+	0	1322				CD53_ENST00000497404.1_3'UTR	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule						positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TTAGAGGGCCTTATTGATGTG	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.*550T>A	1.37:g.111442367T>A			B2R905|Q5U0D6	RNA	SNP	-	NULL	ENST00000271324.5	37	NULL	CCDS829.1	1																																																																																			CD53	-	-	ENSG00000143119		0.378	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD53	HGNC	protein_coding	OTTHUMT00000032931.1	-	0.00	55	0	T	NM_000560		111442367	+1	tier1	-	no_errors	ENST00000497404	ensembl	human	known	74_37	rna	21.31	48	13	SNP	0.000	A
CD53	963	genome.wustl.edu	37	1	111442367	111442367	+	3'UTR	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:111442367T>A	ENST00000271324.5	+	0	1322				CD53_ENST00000497404.1_3'UTR	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule						positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TTAGAGGGCCTTATTGATGTG	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.*550T>A	1.37:g.111442367T>A			B2R905|Q5U0D6	RNA	SNP	-	NULL	ENST00000271324.5	37	NULL	CCDS829.1	1																																																																																			CD53	-	-	ENSG00000143119		0.378	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD53	HGNC	protein_coding	OTTHUMT00000032931.1	-	0.00	72	0	T	NM_000560		111442367	+1	tier1	-	no_errors	ENST00000497404	ensembl	human	known	74_37	rna	21.31	48	13	SNP	0.000	A
CDC42EP4	23580	genome.wustl.edu	37	17	71282691	71282691	+	5'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:71282691G>T	ENST00000335793.3	-	0	343				CDC42EP4_ENST00000439510.2_5'UTR|CDC42EP4_ENST00000581014.1_5'UTR			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4						positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GGCAGGTCTGGGGTCAGATCT	0.602																																																	0													7.0	9.0	8.0					17																	71282691		1315	2287	3602	SO:0001623	5_prime_UTR_variant	0			AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.-52C>A	17.37:g.71282691G>T			B3KUS7|O95828|Q96FT3	RNA	SNP	-	NULL	ENST00000335793.3	37	NULL	CCDS11695.1	17																																																																																			CDC42EP4	-	-	ENSG00000179604		0.602	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP4	HGNC	protein_coding	OTTHUMT00000441898.1	-	0.00	49	0	G	NM_012121		71282691	-1	tier1	-	no_errors	ENST00000581045	ensembl	human	putative	74_37	rna	13.04	20	3	SNP	0.002	T
CDC42EP4	23580	genome.wustl.edu	37	17	71282691	71282691	+	5'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:71282691G>T	ENST00000335793.3	-	0	343				CDC42EP4_ENST00000439510.2_5'UTR|CDC42EP4_ENST00000581014.1_5'UTR			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4						positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GGCAGGTCTGGGGTCAGATCT	0.602																																																	0													7.0	9.0	8.0					17																	71282691		1315	2287	3602	SO:0001623	5_prime_UTR_variant	0			AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.-52C>A	17.37:g.71282691G>T			B3KUS7|O95828|Q96FT3	RNA	SNP	-	NULL	ENST00000335793.3	37	NULL	CCDS11695.1	17																																																																																			CDC42EP4	-	-	ENSG00000179604		0.602	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP4	HGNC	protein_coding	OTTHUMT00000441898.1	-	0.00	63	0	G	NM_012121		71282691	-1	tier1	-	no_errors	ENST00000581045	ensembl	human	putative	74_37	rna	13.04	20	3	SNP	0.002	T
CDH11	1009	genome.wustl.edu	37	16	65005896	65005896	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:65005896A>C	ENST00000268603.4	-	10	2077	c.1462T>G	c.(1462-1464)Ttt>Gtt	p.F488V	CDH11_ENST00000566827.1_Missense_Mutation_p.F362V|CDH11_ENST00000394156.3_Missense_Mutation_p.F488V	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F488V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGGGCAGCAAACTTGGGAGCA	0.483			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	1	Substitution - Missense(1)	lung(1)											109.0	91.0	97.0					16																	65005896		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1462T>G	16.37:g.65005896A>C	ENSP00000268603:p.Phe488Val		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F488V	ENST00000268603.4	37	c.1462	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161804	0.78226	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.30448	1.53;4.23	5.91	4.81	0.61882	Cadherin (3);Cadherin-like (1);	0.047410	0.85682	D	0.000000	T	0.37265	0.0997	M	0.64080	1.96	0.58432	D	0.999999	P;P	0.48294	0.908;0.761	P;B	0.45753	0.492;0.265	T	0.24368	-1.0162	10	0.72032	D	0.01	.	12.5362	0.56142	0.8606:0.1394:0.0:0.0	.	488;488	P55287-2;P55287	.;CAD11_HUMAN	V	488;488;471	ENSP00000268603:F488V;ENSP00000377711:F488V	ENSP00000268603:F488V	F	-	1	0	CDH11	63563397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.072000	0.76777	1.046000	0.40249	0.533000	0.62120	TTT	CDH11	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000140937		0.483	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0.00	75	0	A	NM_033664		65005896	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	8.75	73	7	SNP	1.000	C
CDH11	1009	genome.wustl.edu	37	16	65005896	65005896	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:65005896A>C	ENST00000268603.4	-	10	2077	c.1462T>G	c.(1462-1464)Ttt>Gtt	p.F488V	CDH11_ENST00000566827.1_Missense_Mutation_p.F362V|CDH11_ENST00000394156.3_Missense_Mutation_p.F488V	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F488V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGGGCAGCAAACTTGGGAGCA	0.483			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	1	Substitution - Missense(1)	lung(1)											109.0	91.0	97.0					16																	65005896		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1462T>G	16.37:g.65005896A>C	ENSP00000268603:p.Phe488Val		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F488V	ENST00000268603.4	37	c.1462	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161804	0.78226	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.30448	1.53;4.23	5.91	4.81	0.61882	Cadherin (3);Cadherin-like (1);	0.047410	0.85682	D	0.000000	T	0.37265	0.0997	M	0.64080	1.96	0.58432	D	0.999999	P;P	0.48294	0.908;0.761	P;B	0.45753	0.492;0.265	T	0.24368	-1.0162	10	0.72032	D	0.01	.	12.5362	0.56142	0.8606:0.1394:0.0:0.0	.	488;488	P55287-2;P55287	.;CAD11_HUMAN	V	488;488;471	ENSP00000268603:F488V;ENSP00000377711:F488V	ENSP00000268603:F488V	F	-	1	0	CDH11	63563397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.072000	0.76777	1.046000	0.40249	0.533000	0.62120	TTT	CDH11	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000140937		0.483	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0.00	82	0	A	NM_033664		65005896	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	8.75	73	7	SNP	1.000	C
CDK12	51755	genome.wustl.edu	37	17	37657541	37657541	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:37657541T>A	ENST00000447079.4	+	6	2491	c.2458T>A	c.(2458-2460)Tta>Ata	p.L820I	CDK12_ENST00000430627.2_Missense_Mutation_p.L820I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	820	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGACCATGACTTAATGGGACT	0.348			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													143.0	140.0	141.0					17																	37657541		2203	4300	6503	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2458T>A	17.37:g.37657541T>A	ENSP00000398880:p.Leu820Ile		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L820I	ENST00000447079.4	37	c.2458	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	t	19.63	3.863314	0.71949	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.66460	-0.21;-0.21	5.83	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38605	N	0.001636	T	0.79718	0.4494	M	0.84948	2.725	0.51767	D	0.999931	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.87578	0.998;0.998;0.996	T	0.81402	-0.0949	10	0.87932	D	0	-5.9902	4.729	0.12955	0.0:0.2598:0.0:0.7402	.	819;820;820	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	I	820	ENSP00000407720:L820I;ENSP00000398880:L820I	ENSP00000407720:L820I	L	+	1	2	CDK12	34911067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.569000	0.45973	2.233000	0.73108	0.529000	0.55759	TTA	CDK12	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167258		0.348	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	-	0.00	104	0	T	NM_016507		37657541	+1	tier1	-	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	12.29	207	29	SNP	1.000	A
CDK12	51755	genome.wustl.edu	37	17	37657541	37657541	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:37657541T>A	ENST00000447079.4	+	6	2491	c.2458T>A	c.(2458-2460)Tta>Ata	p.L820I	CDK12_ENST00000430627.2_Missense_Mutation_p.L820I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	820	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGACCATGACTTAATGGGACT	0.348			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													143.0	140.0	141.0					17																	37657541		2203	4300	6503	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2458T>A	17.37:g.37657541T>A	ENSP00000398880:p.Leu820Ile		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L820I	ENST00000447079.4	37	c.2458	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	t	19.63	3.863314	0.71949	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.66460	-0.21;-0.21	5.83	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38605	N	0.001636	T	0.79718	0.4494	M	0.84948	2.725	0.51767	D	0.999931	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.87578	0.998;0.998;0.996	T	0.81402	-0.0949	10	0.87932	D	0	-5.9902	4.729	0.12955	0.0:0.2598:0.0:0.7402	.	819;820;820	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	I	820	ENSP00000407720:L820I;ENSP00000398880:L820I	ENSP00000407720:L820I	L	+	1	2	CDK12	34911067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.569000	0.45973	2.233000	0.73108	0.529000	0.55759	TTA	CDK12	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167258		0.348	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	-	0.00	125	0	T	NM_016507		37657541	+1	tier1	-	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	12.29	207	29	SNP	1.000	A
CELSR2	1952	genome.wustl.edu	37	1	109813595	109813597	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:109813595_109813597delCTG	ENST00000271332.3	+	25	7591_7593	c.7530_7532delCTG	c.(7528-7533)ttctgc>ttc	p.C2511del	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2511					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACCCTGACTTCTGCTGGCTCTCC	0.635																																					NSCLC(158;1285 2011 34800 34852 42084)												0																																										SO:0001651	inframe_deletion	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7530_7532delCTG	1.37:g.109813598_109813600delCTG	ENSP00000271332:p.Cys2511del		Q5T2Y7|Q92566	In_Frame_Del	DEL	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.C2511in_frame_del	ENST00000271332.3	37	c.7530_7532	CCDS796.1	1																																																																																			CELSR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000143126		0.635	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0.00	70	0	CTG	NM_001408		109813597	+1	tier1		no_errors	ENST00000271332	ensembl	human	known	74_37	in_frame_del	22.86	27	8	DEL	1.000:1.000:1.000	-
CELSR2	1952	genome.wustl.edu	37	1	109813595	109813597	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:109813595_109813597delCTG	ENST00000271332.3	+	25	7591_7593	c.7530_7532delCTG	c.(7528-7533)ttctgc>ttc	p.C2511del	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2511					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACCCTGACTTCTGCTGGCTCTCC	0.635																																					NSCLC(158;1285 2011 34800 34852 42084)												0																																										SO:0001651	inframe_deletion	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7530_7532delCTG	1.37:g.109813598_109813600delCTG	ENSP00000271332:p.Cys2511del		Q5T2Y7|Q92566	In_Frame_Del	DEL	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.C2511in_frame_del	ENST00000271332.3	37	c.7530_7532	CCDS796.1	1																																																																																			CELSR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000143126		0.635	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0.00	72	0	CTG	NM_001408		109813597	+1	tier1		no_errors	ENST00000271332	ensembl	human	known	74_37	in_frame_del	22.86	27	8	DEL	1.000:1.000:1.000	-
CEP170B	283638	genome.wustl.edu	37	14	105359959	105359959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:105359959G>T	ENST00000414716.3	+	15	4366	c.4138G>T	c.(4138-4140)Gag>Tag	p.E1380*	CEP170B_ENST00000556508.1_Nonsense_Mutation_p.E1345*|CEP170B_ENST00000453495.1_Nonsense_Mutation_p.E1416*|CEP170B_ENST00000418279.1_Nonsense_Mutation_p.E1310*	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1415						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CGACAGCTGTGAGGACGCCCT	0.677																																																	0													15.0	19.0	17.0					14																	105359959		2134	4219	6353	SO:0001587	stop_gained	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4138G>T	14.37:g.105359959G>T	ENSP00000404151:p.Glu1380*		Q2KHR7|Q86TI7	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E1416*	ENST00000414716.3	37	c.4246	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	G	44	11.081824	0.99513	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	.	.	.	4.22	3.3	0.37823	.	0.954870	0.08720	N	0.903624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-16.7545	12.5074	0.55989	0.0:0.1684:0.8316:0.0	.	.	.	.	X	1345;1380;1416;1310;48	.	ENSP00000251181:E32X	E	+	1	0	KIAA0284	104431004	0.950000	0.32346	0.025000	0.17156	0.774000	0.43823	1.886000	0.39688	0.858000	0.35431	0.436000	0.28706	GAG	CEP170B	-	NULL	ENSG00000099814		0.677	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2		0.00	110	0	G	NM_001112726		105359959	+1			no_errors	ENST00000453495	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	0.024	T
CEP170P1	645455	genome.wustl.edu	37	4	119461452	119461452	+	RNA	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:119461452A>C	ENST00000412784.2	+	0	349					NR_003135.2		Q96L14	C170L_HUMAN	centrosomal protein 170kDa pseudogene 1								identical protein binding (GO:0042802)										ACCAGAAGGAAACAACGGTCG	0.448																																																	0																																												0			BC014590		4q26	2010-10-11	2010-10-11	2010-10-11	ENSG00000154608	ENSG00000154608			28364	pseudogene	pseudogene			"""KIAA0470-like"", ""centrosomal protein 170kDa-like"""	KIAA0470L, CEP170L			Standard	NR_003135		Approved	MGC26143, FAM68B	uc003icb.3	Q96L14	OTTHUMG00000132958		4.37:g.119461452A>C				RNA	SNP	-	NULL	ENST00000412784.2	37	NULL		4																																																																																			CEP170P1	-	-	ENSG00000154608		0.448	CEP170P1-002	KNOWN	basic	processed_transcript	CEP170P1	HGNC	pseudogene	OTTHUMT00000364033.2		0.00	128	0	A	NR_003135.2		119461452	+1			no_errors	ENST00000412784	ensembl	human	known	74_37	rna	8.00	69	6	SNP	1.000	C
CEP350	9857	genome.wustl.edu	37	1	180059910	180059910	+	Missense_Mutation	SNP	G	G	C	rs541399557		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:180059910G>C	ENST00000367607.3	+	33	6905	c.6487G>C	c.(6487-6489)Gag>Cag	p.E2163Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2163					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGATCCCTGGAGTCTATTGC	0.348																																																	0													58.0	59.0	58.0					1																	180059910		2191	4270	6461	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6487G>C	1.37:g.180059910G>C	ENSP00000356579:p.Glu2163Gln		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.E2163Q	ENST00000367607.3	37	c.6487	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.734940|4.734940	0.89482|0.89482	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	T|.	0.59502|.	0.26|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.47852|.	D|.	0.000214|.	T|T	0.61035|0.61035	0.2315|0.2315	L|L	0.51422|0.51422	1.61|1.61	0.31903|0.31903	N|N	0.615656|0.615656	P;P|.	0.47841|.	0.813;0.901|.	B;B|.	0.40444|.	0.328;0.329|.	T|T	0.63963|0.63963	-0.6518|-0.6518	9|5	.|.	.|.	.|.	.|.	17.8522|17.8522	0.88750|0.88750	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2163;2163|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Q|A	2163|337	ENSP00000356579:E2163Q|.	.|.	E|G	+|+	1|2	0|0	CEP350|CEP350	178326533|178326533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	4.673000|4.673000	0.61604|0.61604	2.648000|2.648000	0.89879|0.89879	0.591000|0.591000	0.81541|0.81541	GAG|GGA	CEP350	-	NULL	ENSG00000135837		0.348	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	-	0.00	143	0	G	NM_014810		180059910	+1	tier1	-	no_errors	ENST00000367607	ensembl	human	known	74_37	missense	7.77	95	8	SNP	1.000	C
CEP350	9857	genome.wustl.edu	37	1	180059910	180059910	+	Missense_Mutation	SNP	G	G	C	rs541399557		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:180059910G>C	ENST00000367607.3	+	33	6905	c.6487G>C	c.(6487-6489)Gag>Cag	p.E2163Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2163					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGATCCCTGGAGTCTATTGC	0.348																																																	0													58.0	59.0	58.0					1																	180059910		2191	4270	6461	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6487G>C	1.37:g.180059910G>C	ENSP00000356579:p.Glu2163Gln		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.E2163Q	ENST00000367607.3	37	c.6487	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.734940|4.734940	0.89482|0.89482	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	T|.	0.59502|.	0.26|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.47852|.	D|.	0.000214|.	T|T	0.61035|0.61035	0.2315|0.2315	L|L	0.51422|0.51422	1.61|1.61	0.31903|0.31903	N|N	0.615656|0.615656	P;P|.	0.47841|.	0.813;0.901|.	B;B|.	0.40444|.	0.328;0.329|.	T|T	0.63963|0.63963	-0.6518|-0.6518	9|5	.|.	.|.	.|.	.|.	17.8522|17.8522	0.88750|0.88750	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2163;2163|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Q|A	2163|337	ENSP00000356579:E2163Q|.	.|.	E|G	+|+	1|2	0|0	CEP350|CEP350	178326533|178326533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	4.673000|4.673000	0.61604|0.61604	2.648000|2.648000	0.89879|0.89879	0.591000|0.591000	0.81541|0.81541	GAG|GGA	CEP350	-	NULL	ENSG00000135837		0.348	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	-	0.00	95	0	G	NM_014810		180059910	+1	tier1	-	no_errors	ENST00000367607	ensembl	human	known	74_37	missense	7.77	95	8	SNP	1.000	C
CEP72	55722	genome.wustl.edu	37	5	644475	644475	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:644475T>C	ENST00000264935.5	+	10	1691	c.1601T>C	c.(1600-1602)tTg>tCg	p.L534S	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	534					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AAATCGCTTTTGTTGAGTATG	0.378																																																	0													156.0	157.0	157.0					5																	644475		2203	4300	6503	SO:0001583	missense	0			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1601T>C	5.37:g.644475T>C	ENSP00000264935:p.Leu534Ser		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.L534S	ENST00000264935.5	37	c.1601	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751629	0.49362	.	.	ENSG00000112877	ENST00000264935	T	0.42513	0.97	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000004	T	0.60805	0.2297	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64474	-0.6399	10	0.72032	D	0.01	-12.7819	10.718	0.46023	0.0:0.0:0.0:1.0	.	534	Q9P209	CEP72_HUMAN	S	534	ENSP00000264935:L534S	ENSP00000264935:L534S	L	+	2	0	CEP72	697475	0.773000	0.28580	0.705000	0.30386	0.361000	0.29550	3.221000	0.51215	1.846000	0.53633	0.459000	0.35465	TTG	CEP72	-	NULL	ENSG00000112877		0.378	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3		0.00	71	0	T	NM_018140		644475	+1			no_errors	ENST00000264935	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.898	C
CEP85	64793	genome.wustl.edu	37	1	26603650	26603650	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:26603650G>T	ENST00000252992.4	+	14	2286	c.2155G>T	c.(2155-2157)Gat>Tat	p.D719Y	SH3BGRL3_ENST00000270792.5_5'Flank|SH3BGRL3_ENST00000319041.6_5'Flank|CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.D668Y	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	719						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.D719H(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GACTCAGCTAGATTTGCAGAA	0.468																																																	1	Substitution - Missense(1)	cervix(1)											195.0	187.0	190.0					1																	26603650		2203	4300	6503	SO:0001583	missense	0			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2155G>T	1.37:g.26603650G>T	ENSP00000252992:p.Asp719Tyr		B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	NULL	p.D719Y	ENST00000252992.4	37	c.2155	CCDS277.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.358085|4.358085	0.82243|0.82243	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000451429;ENST00000252992|ENST00000453146	T;T|.	0.11495|.	2.77;2.77|.	5.92|5.92	5.0|5.0	0.66597|0.66597	.|.	0.092980|.	0.64402|.	D|.	0.000001|.	T|.	0.69548|.	0.3123|.	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;0.999;1.0|.	D;D;D|.	0.78314|.	0.952;0.953;0.991|.	T|.	0.68538|.	-0.5382|.	10|.	0.51188|.	T|.	0.08|.	-15.0699|-15.0699	14.7955|14.7955	0.69873|0.69873	0.0:0.0:0.8556:0.1444|0.0:0.0:0.8556:0.1444	.|.	668;719;718|.	F8W7K4;Q6P2H3;Q6P2H3-2|.	.;CEP85_HUMAN;.|.	Y|Y	668;719|391	ENSP00000417002:D668Y;ENSP00000252992:D719Y|.	ENSP00000252992:D719Y|.	D|X	+|+	1|3	0|2	CEP85|CEP85	26476237|26476237	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.941000|0.941000	0.58515|0.58515	9.022000|9.022000	0.93678|0.93678	1.497000|1.497000	0.48584|0.48584	0.561000|0.561000	0.74099|0.74099	GAT|TAG	CEP85	-	NULL	ENSG00000130695		0.468	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2		0.00	50	0	G	NM_022778		26603650	+1			no_errors	ENST00000252992	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.999	T
CEP85L	387119	genome.wustl.edu	37	6	118786715	118786715	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:118786715A>C	ENST00000368491.3	-	13	2892	c.2271T>G	c.(2269-2271)gcT>gcG	p.A757A	CEP85L_ENST00000368488.5_Silent_p.A760A	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	757						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CAGTCTCTTCAGCTGAACAGT	0.343																																																	0													185.0	171.0	175.0					6																	118786715		1919	4125	6044	SO:0001819	synonymous_variant	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2271T>G	6.37:g.118786715A>C			A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	NULL	p.A760	ENST00000368491.3	37	c.2280	CCDS43498.1	6																																																																																			CEP85L	-	NULL	ENSG00000111860		0.343	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	-	0.00	42	0	A	NM_001042475		118786715	-1	tier1	-	no_errors	ENST00000368488	ensembl	human	known	74_37	silent	36.84	24	14	SNP	1.000	C
CEP85L	387119	genome.wustl.edu	37	6	118786715	118786715	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:118786715A>C	ENST00000368491.3	-	13	2892	c.2271T>G	c.(2269-2271)gcT>gcG	p.A757A	CEP85L_ENST00000368488.5_Silent_p.A760A	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	757						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CAGTCTCTTCAGCTGAACAGT	0.343																																																	0													185.0	171.0	175.0					6																	118786715		1919	4125	6044	SO:0001819	synonymous_variant	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2271T>G	6.37:g.118786715A>C			A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	NULL	p.A760	ENST00000368491.3	37	c.2280	CCDS43498.1	6																																																																																			CEP85L	-	NULL	ENSG00000111860		0.343	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	-	0.00	49	0	A	NM_001042475		118786715	-1	tier1	-	no_errors	ENST00000368488	ensembl	human	known	74_37	silent	36.84	24	14	SNP	1.000	C
CFHR3	10878	genome.wustl.edu	37	1	196757426	196757426	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:196757426A>T	ENST00000367425.4	+	4	603	c.511A>T	c.(511-513)Ata>Tta	p.I171L	CFHR3_ENST00000471440.2_Missense_Mutation_p.I171L|CFHR3_ENST00000391985.3_Intron	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	171	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						aaataaagaaatacaatataa	0.299																																																	0													20.0	27.0	25.0					1																	196757426		1766	4015	5781	SO:0001583	missense	0			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.511A>T	1.37:g.196757426A>T	ENSP00000356395:p.Ile171Leu		B4DPR0|Q9UJ16	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.I171L	ENST00000367425.4	37	c.511	CCDS30958.1	1	.	.	.	.	.	.	.	.	.	.	A	0.528	-0.858988	0.02610	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000542253	T;T	0.64085	-0.08;-0.08	2.94	-0.0933	0.13650	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.35682	0.0940	N	0.11364	0.135	0.09310	N	1	B;B	0.21452	0.015;0.056	B;B	0.22152	0.027;0.038	T	0.20107	-1.0285	9	0.22109	T	0.4	.	4.5329	0.12013	0.5356:0.0:0.4644:0.0	.	171;171	Q02985;Q6NSD3	FHR3_HUMAN;.	L	171	ENSP00000356395:I171L;ENSP00000436258:I171L	ENSP00000356395:I171L	I	+	1	0	CFHR3	195024049	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	0.116000	0.15561	0.193000	0.20303	0.322000	0.21391	ATA	CFHR3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000116785		0.299	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2		0.00	59	0	A	NM_021023		196757426	+1			no_errors	ENST00000367425	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.001	T
CFTR	1080	genome.wustl.edu	37	7	117305556	117305556	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:117305556G>T	ENST00000003084.6	+	26	4312	c.4180G>T	c.(4180-4182)Gat>Tat	p.D1394Y	CFTR_ENST00000454343.1_Missense_Mutation_p.D1333Y	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1394	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AGCATTTGCTGATTGCACAGT	0.328									Cystic Fibrosis																																								0													99.0	98.0	98.0					7																	117305556		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4180G>T	7.37:g.117305556G>T	ENSP00000003084:p.Asp1394Tyr		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.D1394Y	ENST00000003084.6	37	c.4180	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859299	0.51376	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91237	-2.81;-2.81;-2.81	5.73	-0.0556	0.13809	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.491460	0.25335	N	0.031405	D	0.93478	0.7919	M	0.86651	2.83	0.33262	D	0.559918	P	0.43352	0.804	P	0.54372	0.75	D	0.93986	0.7262	10	0.87932	D	0	-4.7134	10.1754	0.42935	0.61:0.0:0.39:0.0	.	1394	P13569	CFTR_HUMAN	Y	1394;1333;1364	ENSP00000003084:D1394Y;ENSP00000403677:D1333Y;ENSP00000389119:D1364Y	ENSP00000003084:D1394Y	D	+	1	0	CFTR	117092792	1.000000	0.71417	0.962000	0.40283	0.823000	0.46562	2.122000	0.41987	0.102000	0.17638	-0.136000	0.14681	GAT	CFTR	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel	ENSG00000001626		0.328	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	-	0.00	24	0	G	NM_000492		117305556	+1	tier1	-	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.661	T
CHAMP1	283489	genome.wustl.edu	37	13	115091142	115091142	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:115091142G>T	ENST00000361283.1	+	3	2134	c.1825G>T	c.(1825-1827)Gaa>Taa	p.E609*		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	609	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										GAAACTCTTAGAAGATACTTT	0.368																																																	0													124.0	140.0	135.0					13																	115091142		2203	4300	6503	SO:0001587	stop_gained	0			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1825G>T	13.37:g.115091142G>T	ENSP00000354730:p.Glu609*		B3KU06|Q6P181|Q8NC88|Q9BST0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E609*	ENST00000361283.1	37	c.1825	CCDS9545.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.260813	0.97421	.	.	ENSG00000198824	ENST00000361283	.	.	.	5.27	5.27	0.74061	.	0.106382	0.40640	N	0.001048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3177	19.2843	0.94065	0.0:0.0:1.0:0.0	.	.	.	.	X	609	.	.	E	+	1	0	ZNF828	114109244	1.000000	0.71417	0.929000	0.37066	0.415000	0.31203	5.518000	0.67068	2.636000	0.89361	0.655000	0.94253	GAA	CHAMP1	-	NULL	ENSG00000198824		0.368	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAMP1	HGNC	protein_coding	OTTHUMT00000045977.2		0.00	61	0	G	NM_032436		115091142	+1			no_errors	ENST00000361283	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	0.994	T
CHAT	1103	genome.wustl.edu	37	10	50870765	50870765	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:50870765G>T	ENST00000337653.2	+	14	2067	c.1914G>T	c.(1912-1914)ctG>ctT	p.L638L	CHAT_ENST00000351556.3_Silent_p.L520L|CHAT_ENST00000339797.1_Silent_p.L520L|CHAT_ENST00000455728.2_Silent_p.L520L|CHAT_ENST00000395562.2_Silent_p.L556L|CHAT_ENST00000395559.2_Silent_p.L520L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	638					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GCAAGGAGCTGCCCGAGATGT	0.577																																																	0													155.0	147.0	150.0					10																	50870765		2203	4300	6503	SO:0001819	synonymous_variant	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1914G>T	10.37:g.50870765G>T			A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	pfam_Carn_acyl_trans	p.L638	ENST00000337653.2	37	c.1914	CCDS7232.1	10																																																																																			CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.577	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0.00	55	0	G	NM_020549		50870765	+1	tier1	-	no_errors	ENST00000337653	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.998	T
CHAT	1103	genome.wustl.edu	37	10	50870765	50870765	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:50870765G>T	ENST00000337653.2	+	14	2067	c.1914G>T	c.(1912-1914)ctG>ctT	p.L638L	CHAT_ENST00000351556.3_Silent_p.L520L|CHAT_ENST00000339797.1_Silent_p.L520L|CHAT_ENST00000455728.2_Silent_p.L520L|CHAT_ENST00000395562.2_Silent_p.L556L|CHAT_ENST00000395559.2_Silent_p.L520L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	638					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GCAAGGAGCTGCCCGAGATGT	0.577																																																	0													155.0	147.0	150.0					10																	50870765		2203	4300	6503	SO:0001819	synonymous_variant	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1914G>T	10.37:g.50870765G>T			A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	pfam_Carn_acyl_trans	p.L638	ENST00000337653.2	37	c.1914	CCDS7232.1	10																																																																																			CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.577	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0.00	59	0	G	NM_020549		50870765	+1	tier1	-	no_errors	ENST00000337653	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.998	T
CHP2	63928	genome.wustl.edu	37	16	23768870	23768870	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:23768870T>G	ENST00000300113.2	+	7	980	c.557T>G	c.(556-558)gTt>gGt	p.V186G		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	186	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		AAGATGGACGTTGAGCAAAAA	0.522																																																	0													203.0	183.0	190.0					16																	23768870		2197	4300	6497	SO:0001583	missense	0				CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.557T>G	16.37:g.23768870T>G	ENSP00000300113:p.Val186Gly		A8K2I8	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.V186G	ENST00000300113.2	37	c.557	CCDS10617.1	16	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036074	0.54896	.	.	ENSG00000166869	ENST00000300113	T	0.30448	1.53	4.57	4.57	0.56435	.	0.259165	0.31472	N	0.007595	T	0.57359	0.2048	M	0.90922	3.16	0.58432	D	0.999999	D	0.53885	0.963	P	0.58077	0.832	T	0.67833	-0.5568	10	0.87932	D	0	-12.9261	12.199	0.54313	0.0:0.0:0.0:1.0	.	186	O43745	CHP2_HUMAN	G	186	ENSP00000300113:V186G	ENSP00000300113:V186G	V	+	2	0	AC130454.2	23676371	0.996000	0.38824	0.924000	0.36721	0.722000	0.41435	6.784000	0.75084	2.050000	0.60909	0.533000	0.62120	GTT	CHP2	-	pfscan_EF_hand_dom	ENSG00000166869		0.522	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP2	HGNC	protein_coding	OTTHUMT00000254498.1	-	0.00	106	0	T	NM_022097		23768870	+1	tier1	-	no_errors	ENST00000300113	ensembl	human	known	74_37	missense	22.45	76	22	SNP	0.986	G
CHP2	63928	genome.wustl.edu	37	16	23768870	23768870	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:23768870T>G	ENST00000300113.2	+	7	980	c.557T>G	c.(556-558)gTt>gGt	p.V186G		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	186	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		AAGATGGACGTTGAGCAAAAA	0.522																																																	0													203.0	183.0	190.0					16																	23768870		2197	4300	6497	SO:0001583	missense	0				CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.557T>G	16.37:g.23768870T>G	ENSP00000300113:p.Val186Gly		A8K2I8	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.V186G	ENST00000300113.2	37	c.557	CCDS10617.1	16	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036074	0.54896	.	.	ENSG00000166869	ENST00000300113	T	0.30448	1.53	4.57	4.57	0.56435	.	0.259165	0.31472	N	0.007595	T	0.57359	0.2048	M	0.90922	3.16	0.58432	D	0.999999	D	0.53885	0.963	P	0.58077	0.832	T	0.67833	-0.5568	10	0.87932	D	0	-12.9261	12.199	0.54313	0.0:0.0:0.0:1.0	.	186	O43745	CHP2_HUMAN	G	186	ENSP00000300113:V186G	ENSP00000300113:V186G	V	+	2	0	AC130454.2	23676371	0.996000	0.38824	0.924000	0.36721	0.722000	0.41435	6.784000	0.75084	2.050000	0.60909	0.533000	0.62120	GTT	CHP2	-	pfscan_EF_hand_dom	ENSG00000166869		0.522	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP2	HGNC	protein_coding	OTTHUMT00000254498.1	-	0.00	95	0	T	NM_022097		23768870	+1	tier1	-	no_errors	ENST00000300113	ensembl	human	known	74_37	missense	22.45	76	22	SNP	0.986	G
CHSY3	337876	genome.wustl.edu	37	5	129520423	129520423	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:129520423delA	ENST00000305031.4	+	3	1946	c.1588delA	c.(1588-1590)aacfs	p.N530fs		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	530					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCGCAGAGTTAACCCCATGCA	0.463																																																	0													72.0	70.0	71.0					5																	129520423		2203	4300	6503	SO:0001589	frameshift_variant	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1588delA	5.37:g.129520423delA	ENSP00000302629:p.Asn530fs		B2RP97|Q76L22|Q86Y52	Frame_Shift_Del	DEL	pfam_Chond_GalNAc,pfam_Fringe-like	p.N530fs	ENST00000305031.4	37	c.1588	CCDS34223.1	5																																																																																			CHSY3	-	pfam_Chond_GalNAc	ENSG00000198108		0.463	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1		0.00	98	0	A	NM_175856		129520423	+1	tier1		no_errors	ENST00000305031	ensembl	human	known	74_37	frame_shift_del	28.12	46	18	DEL	0.984	-
CLEC2B	9976	genome.wustl.edu	37	12	10010204	10010204	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:10010204G>T	ENST00000228438.2	-	3	1039	c.106C>A	c.(106-108)Ccc>Acc	p.P36T	CLEC2B_ENST00000538152.1_5'Flank	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	36						integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						CAATCATAGGGGCATAAACTC	0.333																																																	0													59.0	59.0	59.0					12																	10010204		2203	4297	6500	SO:0001583	missense	0			X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"""C-type lectin domain containing"""	2053	protein-coding gene	gene with protein product		603242	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"""	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.106C>A	12.37:g.10010204G>T	ENSP00000228438:p.Pro36Thr		B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P36T	ENST00000228438.2	37	c.106	CCDS8605.1	12	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198548	0.38806	.	.	ENSG00000110852	ENST00000228438	T	0.75367	-0.93	2.55	2.55	0.30701	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.368851	0.19345	N	0.116543	D	0.82586	0.5069	M	0.76727	2.345	0.43300	D	0.995299	D	0.71674	0.998	D	0.71414	0.973	T	0.83301	-0.0028	10	0.87932	D	0	.	8.7396	0.34550	0.0:0.0:1.0:0.0	.	36	Q92478	CLC2B_HUMAN	T	36	ENSP00000228438:P36T	ENSP00000228438:P36T	P	-	1	0	CLEC2B	9901471	0.995000	0.38212	0.399000	0.26333	0.032000	0.12392	2.039000	0.41193	1.739000	0.51704	0.591000	0.81541	CCC	CLEC2B	-	pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin	ENSG00000110852		0.333	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC2B	HGNC	protein_coding	OTTHUMT00000399881.1	-	0.00	35	0	G	NM_005127		10010204	-1	tier1	-	no_errors	ENST00000228438	ensembl	human	known	74_37	missense	20.00	56	14	SNP	0.424	T
CLEC2B	9976	genome.wustl.edu	37	12	10010204	10010204	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:10010204G>T	ENST00000228438.2	-	3	1039	c.106C>A	c.(106-108)Ccc>Acc	p.P36T	CLEC2B_ENST00000538152.1_5'Flank	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	36						integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						CAATCATAGGGGCATAAACTC	0.333																																																	0													59.0	59.0	59.0					12																	10010204		2203	4297	6500	SO:0001583	missense	0			X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"""C-type lectin domain containing"""	2053	protein-coding gene	gene with protein product		603242	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"""	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.106C>A	12.37:g.10010204G>T	ENSP00000228438:p.Pro36Thr		B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P36T	ENST00000228438.2	37	c.106	CCDS8605.1	12	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198548	0.38806	.	.	ENSG00000110852	ENST00000228438	T	0.75367	-0.93	2.55	2.55	0.30701	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.368851	0.19345	N	0.116543	D	0.82586	0.5069	M	0.76727	2.345	0.43300	D	0.995299	D	0.71674	0.998	D	0.71414	0.973	T	0.83301	-0.0028	10	0.87932	D	0	.	8.7396	0.34550	0.0:0.0:1.0:0.0	.	36	Q92478	CLC2B_HUMAN	T	36	ENSP00000228438:P36T	ENSP00000228438:P36T	P	-	1	0	CLEC2B	9901471	0.995000	0.38212	0.399000	0.26333	0.032000	0.12392	2.039000	0.41193	1.739000	0.51704	0.591000	0.81541	CCC	CLEC2B	-	pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin	ENSG00000110852		0.333	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC2B	HGNC	protein_coding	OTTHUMT00000399881.1	-	0.00	71	0	G	NM_005127		10010204	-1	tier1	-	no_errors	ENST00000228438	ensembl	human	known	74_37	missense	20.00	56	14	SNP	0.424	T
CLPSL2	389383	genome.wustl.edu	37	6	35745305	35745305	+	Missense_Mutation	SNP	G	G	T	rs111605439	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:35745305G>T	ENST00000403376.3	+	2	154	c.154G>T	c.(154-156)Ggt>Tgt	p.G52C	CLPSL2_ENST00000360454.2_Missense_Mutation_p.G52C|CLPSL2_ENST00000481904.1_3'UTR	NM_207409.2	NP_997292.2	Q6UWE3	COLL2_HUMAN	colipase-like 2	52					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										CTTGGACTCCGGTGGAGCCTT	0.577																																																	0													66.0	60.0	62.0					6																	35745305		2203	4300	6503	SO:0001583	missense	0				CCDS4810.2, CCDS69095.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000196748	ENSG00000196748			21250	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 126"""	C6orf126			Standard	NM_001286550		Approved	dJ510O8.5, UNQ3045	uc010jvz.1	Q6UWE3	OTTHUMG00000014581	ENST00000403376.3:c.154G>T	6.37:g.35745305G>T	ENSP00000385898:p.Gly52Cys		B0QZ45|Q5T9G3	Missense_Mutation	SNP	NULL	p.G52C	ENST00000403376.3	37	c.154	CCDS4810.2	6	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189156	0.38707	.	.	ENSG00000196748	ENST00000360454;ENST00000403376	.	.	.	3.41	-0.516	0.11950	.	0.659767	0.12566	N	0.457726	T	0.36991	0.0987	L	0.54323	1.7	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.12915	-1.0529	9	0.72032	D	0.01	-6.9945	6.1729	0.20427	0.5181:0.0:0.4819:0.0	.	52;52	Q6UWE3;Q6UWE3-2	CF126_HUMAN;.	C	52	.	ENSP00000353639:G52C	G	+	1	0	C6orf126	35853283	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	0.012000	0.13287	-0.140000	0.11394	0.561000	0.74099	GGT	CLPSL2	-	NULL	ENSG00000196748		0.577	CLPSL2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPSL2	HGNC	protein_coding	OTTHUMT00000280618.2	-	0.00	62	0	G	NM_207409		35745305	+1	tier1	-	no_errors	ENST00000360454	ensembl	human	known	74_37	missense	41.30	27	19	SNP	0.000	T
CLPSL2	389383	genome.wustl.edu	37	6	35745305	35745305	+	Missense_Mutation	SNP	G	G	T	rs111605439	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:35745305G>T	ENST00000403376.3	+	2	154	c.154G>T	c.(154-156)Ggt>Tgt	p.G52C	CLPSL2_ENST00000360454.2_Missense_Mutation_p.G52C|CLPSL2_ENST00000481904.1_3'UTR	NM_207409.2	NP_997292.2	Q6UWE3	COLL2_HUMAN	colipase-like 2	52					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										CTTGGACTCCGGTGGAGCCTT	0.577																																																	0													66.0	60.0	62.0					6																	35745305		2203	4300	6503	SO:0001583	missense	0				CCDS4810.2, CCDS69095.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000196748	ENSG00000196748			21250	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 126"""	C6orf126			Standard	NM_001286550		Approved	dJ510O8.5, UNQ3045	uc010jvz.1	Q6UWE3	OTTHUMG00000014581	ENST00000403376.3:c.154G>T	6.37:g.35745305G>T	ENSP00000385898:p.Gly52Cys		B0QZ45|Q5T9G3	Missense_Mutation	SNP	NULL	p.G52C	ENST00000403376.3	37	c.154	CCDS4810.2	6	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189156	0.38707	.	.	ENSG00000196748	ENST00000360454;ENST00000403376	.	.	.	3.41	-0.516	0.11950	.	0.659767	0.12566	N	0.457726	T	0.36991	0.0987	L	0.54323	1.7	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.12915	-1.0529	9	0.72032	D	0.01	-6.9945	6.1729	0.20427	0.5181:0.0:0.4819:0.0	.	52;52	Q6UWE3;Q6UWE3-2	CF126_HUMAN;.	C	52	.	ENSP00000353639:G52C	G	+	1	0	C6orf126	35853283	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	0.012000	0.13287	-0.140000	0.11394	0.561000	0.74099	GGT	CLPSL2	-	NULL	ENSG00000196748		0.577	CLPSL2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPSL2	HGNC	protein_coding	OTTHUMT00000280618.2	-	0.00	63	0	G	NM_207409		35745305	+1	tier1	-	no_errors	ENST00000360454	ensembl	human	known	74_37	missense	41.30	27	19	SNP	0.000	T
CLSPN	63967	genome.wustl.edu	37	1	36230905	36230905	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:36230905G>T	ENST00000318121.3	-	2	104	c.47C>A	c.(46-48)cCa>cAa	p.P16Q	CLSPN_ENST00000520551.1_Missense_Mutation_p.P16Q|CLSPN_ENST00000373220.3_Missense_Mutation_p.P16Q|CLSPN_ENST00000251195.5_Missense_Mutation_p.P16Q	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	16					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATGACGTTTGGGTCATTGAT	0.408																																																	0													134.0	123.0	127.0					1																	36230905		2203	4300	6503	SO:0001583	missense	0			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.47C>A	1.37:g.36230905G>T	ENSP00000312995:p.Pro16Gln		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	NULL	p.P16Q	ENST00000318121.3	37	c.47	CCDS396.1	1	.	.	.	.	.	.	.	.	.	.	G	7.181	0.589567	0.13812	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.20598	2.06;2.07;2.06;2.06	5.92	1.6	0.23607	.	1.001520	0.08050	N	0.996495	T	0.16300	0.0392	N	0.24115	0.695	0.09310	N	1	P;P	0.44946	0.773;0.846	B;P	0.44990	0.246;0.466	T	0.18053	-1.0349	10	0.42905	T	0.14	2.6052	4.8609	0.13583	0.2942:0.1515:0.5543:0.0	.	16;16	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Q	16	ENSP00000251195:P16Q;ENSP00000312995:P16Q;ENSP00000362317:P16Q;ENSP00000428848:P16Q	ENSP00000251195:P16Q	P	-	2	0	CLSPN	36003492	0.976000	0.34144	0.021000	0.16686	0.057000	0.15508	0.754000	0.26390	0.021000	0.15133	0.655000	0.94253	CCA	CLSPN	-	NULL	ENSG00000092853		0.408	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1		0.00	82	0	G	NM_022111		36230905	-1			no_errors	ENST00000318121	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.441	T
CNDP2	55748	genome.wustl.edu	37	18	72178185	72178185	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:72178185G>T	ENST00000324262.4	+	6	910	c.594G>T	c.(592-594)tgG>tgT	p.W198C	CNDP2_ENST00000579847.1_Missense_Mutation_p.W198C|CNDP2_ENST00000324301.8_Missense_Mutation_p.W114C	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	198					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ACAATTACTGGCTGGGAAAGA	0.493																																																	0													129.0	110.0	117.0					18																	72178185		2203	4300	6503	SO:0001583	missense	0			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.594G>T	18.37:g.72178185G>T	ENSP00000325548:p.Trp198Cys		B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.W198C	ENST00000324262.4	37	c.594	CCDS12006.1	18	.	.	.	.	.	.	.	.	.	.	G	6.643	0.487103	0.12641	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.51574	0.7;0.7	6.17	4.41	0.53225	.	0.051795	0.85682	D	0.000000	T	0.77505	0.4140	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.83784	0.0227	10	0.87932	D	0	-13.5629	13.0755	0.59085	0.1289:0.0:0.8711:0.0	.	103;114;198	B4DPF1;Q96KP4-2;Q96KP4	.;.;CNDP2_HUMAN	C	198;114	ENSP00000325548:W198C;ENSP00000325756:W114C	ENSP00000325548:W198C	W	+	3	0	CNDP2	70329165	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	9.756000	0.98918	0.954000	0.37851	-0.140000	0.14226	TGG	CNDP2	-	pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1	ENSG00000133313		0.493	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP2	HGNC	protein_coding	OTTHUMT00000256327.1	-	0.00	86	0	G	NM_018235		72178185	+1	tier1	-	no_errors	ENST00000324262	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
CNNM2	54805	genome.wustl.edu	37	10	104814134	104814134	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:104814134A>G	ENST00000369878.4	+	3	2002	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	CNNM2_ENST00000433628.2_Missense_Mutation_p.D605G	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	605					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGAAAGCAAGATTTTTCTGCC	0.443											OREG0020489	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													66.0	67.0	66.0					10																	104814134		1950	4140	6090	SO:0001583	missense	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1814A>G	10.37:g.104814134A>G	ENSP00000358894:p.Asp605Gly	1384	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.D605G	ENST00000369878.4	37	c.1814	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886077	0.72410	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T;T	0.75154	-0.91;-0.9	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.87438	0.6177	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.91635	0.999;0.908	D	0.88923	0.3367	10	0.72032	D	0.01	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	605;605	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	G	605	ENSP00000392875:D605G;ENSP00000358894:D605G	ENSP00000286899:D605G	D	+	2	0	CNNM2	104804124	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	GAT	CNNM2	-	superfamily_cNMP-bd-like	ENSG00000148842		0.443	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	-	0.00	57	0	A	NM_017649		104814134	+1	tier1	-	no_errors	ENST00000369878	ensembl	human	known	74_37	missense	11.76	44	6	SNP	1.000	G
CNNM2	54805	genome.wustl.edu	37	10	104814134	104814134	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:104814134A>G	ENST00000369878.4	+	3	2002	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	CNNM2_ENST00000433628.2_Missense_Mutation_p.D605G	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	605					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGAAAGCAAGATTTTTCTGCC	0.443											OREG0020489	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													66.0	67.0	66.0					10																	104814134		1950	4140	6090	SO:0001583	missense	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1814A>G	10.37:g.104814134A>G	ENSP00000358894:p.Asp605Gly	1384	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.D605G	ENST00000369878.4	37	c.1814	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886077	0.72410	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T;T	0.75154	-0.91;-0.9	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.87438	0.6177	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.91635	0.999;0.908	D	0.88923	0.3367	10	0.72032	D	0.01	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	605;605	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	G	605	ENSP00000392875:D605G;ENSP00000358894:D605G	ENSP00000286899:D605G	D	+	2	0	CNNM2	104804124	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	GAT	CNNM2	-	superfamily_cNMP-bd-like	ENSG00000148842		0.443	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	-	0.00	74	0	A	NM_017649		104814134	+1	tier1	-	no_errors	ENST00000369878	ensembl	human	known	74_37	missense	11.76	44	6	SNP	1.000	G
CNNM4	26504	genome.wustl.edu	37	2	97462821	97462821	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:97462821G>T	ENST00000377075.2	+	2	1573	c.1475G>T	c.(1474-1476)gGc>gTc	p.G492V	MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_5'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	492	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GAGGTCCTGGGCCTGGTCACC	0.582																																																	0													85.0	64.0	71.0					2																	97462821		2203	4300	6503	SO:0001583	missense	0			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1475G>T	2.37:g.97462821G>T	ENSP00000366275:p.Gly492Val		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.G492V	ENST00000377075.2	37	c.1475	CCDS2024.2	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567180	0.86439	.	.	ENSG00000158158	ENST00000377075	D	0.99594	-6.25	5.1	4.2	0.49525	Cystathionine beta-synthase, core (2);	0.056988	0.64402	N	0.000001	D	0.99813	0.9918	H	0.99074	4.42	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.96755	0.9557	10	0.87932	D	0	-7.8253	13.9847	0.64326	0.0:0.0:0.8467:0.1533	.	492	Q6P4Q7	CNNM4_HUMAN	V	492	ENSP00000366275:G492V	ENSP00000366275:G492V	G	+	2	0	CNNM4	96826548	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.420000	0.97426	1.253000	0.44018	0.557000	0.71058	GGC	CNNM4	-	pfam_CBS_dom	ENSG00000158158		0.582	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1		0.00	89	0	G	NM_020184		97462821	+1			no_errors	ENST00000377075	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
CNPY1	285888	genome.wustl.edu	37	7	155301718	155301718	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:155301718C>T	ENST00000321736.5	-	2	177	c.15G>A	c.(13-15)aaG>aaA	p.K5K	AC008060.5_ENST00000415333.1_RNA|CNPY1_ENST00000406197.1_Silent_p.K5K	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	5										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTCCTCAAGCTTGTAGTCGT	0.423																																																	0													66.0	65.0	65.0					7																	155301718		1837	4087	5924	SO:0001819	synonymous_variant	0				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.15G>A	7.37:g.155301718C>T			A6NGX3	Silent	SNP	pfam_DUF3456	p.K5	ENST00000321736.5	37	c.15	CCDS43684.1	7																																																																																			CNPY1	-	pfam_DUF3456	ENSG00000146910		0.423	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CNPY1	HGNC	protein_coding	OTTHUMT00000322335.1	-	0.00	52	0	C	XM_001129537		155301718	-1	tier1	-	no_errors	ENST00000321736	ensembl	human	putative	74_37	silent	50.98	25	26	SNP	0.993	T
CNPY1	285888	genome.wustl.edu	37	7	155301718	155301718	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:155301718C>T	ENST00000321736.5	-	2	177	c.15G>A	c.(13-15)aaG>aaA	p.K5K	AC008060.5_ENST00000415333.1_RNA|CNPY1_ENST00000406197.1_Silent_p.K5K	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	5										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTCCTCAAGCTTGTAGTCGT	0.423																																																	0													66.0	65.0	65.0					7																	155301718		1837	4087	5924	SO:0001819	synonymous_variant	0				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.15G>A	7.37:g.155301718C>T			A6NGX3	Silent	SNP	pfam_DUF3456	p.K5	ENST00000321736.5	37	c.15	CCDS43684.1	7																																																																																			CNPY1	-	pfam_DUF3456	ENSG00000146910		0.423	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CNPY1	HGNC	protein_coding	OTTHUMT00000322335.1	-	0.00	81	0	C	XM_001129537		155301718	-1	tier1	-	no_errors	ENST00000321736	ensembl	human	putative	74_37	silent	50.98	25	26	SNP	0.993	T
CNTLN	54875	genome.wustl.edu	37	9	17309171	17309171	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:17309171A>C	ENST00000380647.3	+	8	1346	c.1262A>C	c.(1261-1263)aAg>aCg	p.K421T	CNTLN_ENST00000425824.1_Missense_Mutation_p.K421T|CNTLN_ENST00000262360.5_Missense_Mutation_p.K421T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	421					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAAAATGCTAAGTTAAAAGAA	0.373																																																	0													58.0	57.0	58.0					9																	17309171		1848	4084	5932	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1262A>C	9.37:g.17309171A>C	ENSP00000370021:p.Lys421Thr		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.K421T	ENST00000380647.3	37	c.1262	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359791	0.82353	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.06608	3.28;3.28;3.28	5.66	5.66	0.87406	.	.	.	.	.	T	0.18635	0.0447	M	0.65975	2.015	0.36265	D	0.854806	D;D;D	0.63880	0.976;0.993;0.993	P;P;P	0.55391	0.677;0.775;0.775	T	0.03695	-1.1012	9	0.54805	T	0.06	.	15.8375	0.78811	1.0:0.0:0.0:0.0	.	421;421;421	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	421	ENSP00000370021:K421T;ENSP00000392798:K421T;ENSP00000262360:K421T	ENSP00000262360:K421T	K	+	2	0	CNTLN	17299171	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	3.590000	0.53979	2.283000	0.76528	0.477000	0.44152	AAG	CNTLN	-	NULL	ENSG00000044459		0.373	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	-	0.00	39	0	A	NM_017738		17309171	+1	tier1	-	no_errors	ENST00000380647	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	C
CNTLN	54875	genome.wustl.edu	37	9	17309171	17309171	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:17309171A>C	ENST00000380647.3	+	8	1346	c.1262A>C	c.(1261-1263)aAg>aCg	p.K421T	CNTLN_ENST00000425824.1_Missense_Mutation_p.K421T|CNTLN_ENST00000262360.5_Missense_Mutation_p.K421T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	421					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAAAATGCTAAGTTAAAAGAA	0.373																																																	0													58.0	57.0	58.0					9																	17309171		1848	4084	5932	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1262A>C	9.37:g.17309171A>C	ENSP00000370021:p.Lys421Thr		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.K421T	ENST00000380647.3	37	c.1262	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359791	0.82353	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.06608	3.28;3.28;3.28	5.66	5.66	0.87406	.	.	.	.	.	T	0.18635	0.0447	M	0.65975	2.015	0.36265	D	0.854806	D;D;D	0.63880	0.976;0.993;0.993	P;P;P	0.55391	0.677;0.775;0.775	T	0.03695	-1.1012	9	0.54805	T	0.06	.	15.8375	0.78811	1.0:0.0:0.0:0.0	.	421;421;421	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	421	ENSP00000370021:K421T;ENSP00000392798:K421T;ENSP00000262360:K421T	ENSP00000262360:K421T	K	+	2	0	CNTLN	17299171	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	3.590000	0.53979	2.283000	0.76528	0.477000	0.44152	AAG	CNTLN	-	NULL	ENSG00000044459		0.373	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	-	0.00	69	0	A	NM_017738		17309171	+1	tier1	-	no_errors	ENST00000380647	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	C
CNTN1	1272	genome.wustl.edu	37	12	41327555	41327555	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:41327555A>T	ENST00000551295.2	+	9	977	c.860A>T	c.(859-861)gAg>gTg	p.E287V	CNTN1_ENST00000547702.1_Missense_Mutation_p.E287V|CNTN1_ENST00000347616.1_Missense_Mutation_p.E287V|CNTN1_ENST00000348761.2_Missense_Mutation_p.E276V|CNTN1_ENST00000360099.3_Missense_Mutation_p.E287V|CNTN1_ENST00000547849.1_Missense_Mutation_p.E287V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	287	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGCACTGCTGAGATTAGCACC	0.408																																																	0													97.0	97.0	97.0					12																	41327555		2203	4298	6501	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.860A>T	12.37:g.41327555A>T	ENSP00000447006:p.Glu287Val		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E287V	ENST00000551295.2	37	c.860	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568298	0.86439	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.052013	0.85682	D	0.000000	T	0.71467	0.3343	L	0.28740	0.885	0.80722	D	1	D;P;B	0.61697	0.99;0.775;0.232	D;P;B	0.64237	0.923;0.485;0.147	T	0.72523	-0.4267	10	0.45353	T	0.12	.	15.8715	0.79122	1.0:0.0:0.0:0.0	.	287;276;287	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	V	287;287;287;287;287;276	ENSP00000448004:E287V;ENSP00000447006:E287V;ENSP00000448653:E287V;ENSP00000325660:E287V;ENSP00000353213:E287V;ENSP00000261160:E276V	ENSP00000325660:E287V	E	+	2	0	CNTN1	39613822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.730000	0.91510	2.221000	0.72209	0.528000	0.53228	GAG	CNTN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000018236		0.408	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0.00	45	0	A	NM_001843		41327555	+1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
CNTN1	1272	genome.wustl.edu	37	12	41327555	41327555	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:41327555A>T	ENST00000551295.2	+	9	977	c.860A>T	c.(859-861)gAg>gTg	p.E287V	CNTN1_ENST00000547702.1_Missense_Mutation_p.E287V|CNTN1_ENST00000347616.1_Missense_Mutation_p.E287V|CNTN1_ENST00000348761.2_Missense_Mutation_p.E276V|CNTN1_ENST00000360099.3_Missense_Mutation_p.E287V|CNTN1_ENST00000547849.1_Missense_Mutation_p.E287V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	287	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGCACTGCTGAGATTAGCACC	0.408																																																	0													97.0	97.0	97.0					12																	41327555		2203	4298	6501	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.860A>T	12.37:g.41327555A>T	ENSP00000447006:p.Glu287Val		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E287V	ENST00000551295.2	37	c.860	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568298	0.86439	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.052013	0.85682	D	0.000000	T	0.71467	0.3343	L	0.28740	0.885	0.80722	D	1	D;P;B	0.61697	0.99;0.775;0.232	D;P;B	0.64237	0.923;0.485;0.147	T	0.72523	-0.4267	10	0.45353	T	0.12	.	15.8715	0.79122	1.0:0.0:0.0:0.0	.	287;276;287	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	V	287;287;287;287;287;276	ENSP00000448004:E287V;ENSP00000447006:E287V;ENSP00000448653:E287V;ENSP00000325660:E287V;ENSP00000353213:E287V;ENSP00000261160:E276V	ENSP00000325660:E287V	E	+	2	0	CNTN1	39613822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.730000	0.91510	2.221000	0.72209	0.528000	0.53228	GAG	CNTN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000018236		0.408	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0.00	46	0	A	NM_001843		41327555	+1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
CNTNAP1	8506	genome.wustl.edu	37	17	40847736	40847736	+	Missense_Mutation	SNP	C	C	G	rs143542325		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:40847736C>G	ENST00000264638.4	+	19	3407	c.3190C>G	c.(3190-3192)Cgg>Ggg	p.R1064G	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1064					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CGACTACCCCCGGCCTGGTCG	0.657																																																	0													55.0	55.0	55.0					17																	40847736		2203	4300	6503	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3190C>G	17.37:g.40847736C>G	ENSP00000264638:p.Arg1064Gly			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R1064G	ENST00000264638.4	37	c.3190	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980528	0.34942	.	.	ENSG00000108797	ENST00000264638	D	0.90324	-2.65	5.52	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.405134	0.21067	N	0.080731	T	0.79592	0.4472	N	0.08118	0	0.09310	N	1	B	0.26602	0.154	B	0.23419	0.046	T	0.64241	-0.6454	10	0.22706	T	0.39	.	12.968	0.58497	0.2952:0.7048:0.0:0.0	.	1064	P78357	CNTP1_HUMAN	G	1064	ENSP00000264638:R1064G	ENSP00000264638:R1064G	R	+	1	2	CNTNAP1	38101262	0.598000	0.26882	0.129000	0.21949	0.976000	0.68499	1.068000	0.30629	0.616000	0.30141	0.655000	0.94253	CGG	CNTNAP1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000108797		0.657	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1		0.00	55	0	C	NM_003632		40847736	+1			no_errors	ENST00000264638	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.050	G
CNTNAP2	26047	genome.wustl.edu	37	7	147675066	147675066	+	Missense_Mutation	SNP	C	C	T	rs200089329		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:147675066C>T	ENST00000361727.3	+	15	2884	c.2368C>T	c.(2368-2370)Cgc>Tgc	p.R790C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	790	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGTCCTCTGCGCTGCCAAGG	0.468										HNSCC(39;0.1)																																							0													127.0	107.0	114.0					7																	147675066		2203	4300	6503	SO:0001583	missense	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2368C>T	7.37:g.147675066C>T	ENSP00000354778:p.Arg790Cys		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R790C	ENST00000361727.3	37	c.2368	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598388	0.87055	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.13778	2.56;2.56	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.88570	2.965	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.47407	-0.9120	10	0.56958	D	0.05	.	18.1972	0.89826	0.0:1.0:0.0:0.0	.	790	Q9UHC6	CNTP2_HUMAN	C	790;181	ENSP00000354778:R790C;ENSP00000392208:R181C	ENSP00000354778:R790C	R	+	1	0	CNTNAP2	147305999	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.329000	0.79170	2.640000	0.89533	0.655000	0.94253	CGC	CNTNAP2	-	NULL	ENSG00000174469		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	-	0.00	51	0	C			147675066	+1	tier1	rs200089329	no_errors	ENST00000361727	ensembl	human	known	74_37	missense	36.96	29	17	SNP	1.000	T
CNTNAP2	26047	genome.wustl.edu	37	7	147675066	147675066	+	Missense_Mutation	SNP	C	C	T	rs200089329		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:147675066C>T	ENST00000361727.3	+	15	2884	c.2368C>T	c.(2368-2370)Cgc>Tgc	p.R790C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	790	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGTCCTCTGCGCTGCCAAGG	0.468										HNSCC(39;0.1)																																							0													127.0	107.0	114.0					7																	147675066		2203	4300	6503	SO:0001583	missense	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2368C>T	7.37:g.147675066C>T	ENSP00000354778:p.Arg790Cys		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R790C	ENST00000361727.3	37	c.2368	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598388	0.87055	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.13778	2.56;2.56	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.88570	2.965	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.47407	-0.9120	10	0.56958	D	0.05	.	18.1972	0.89826	0.0:1.0:0.0:0.0	.	790	Q9UHC6	CNTP2_HUMAN	C	790;181	ENSP00000354778:R790C;ENSP00000392208:R181C	ENSP00000354778:R790C	R	+	1	0	CNTNAP2	147305999	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.329000	0.79170	2.640000	0.89533	0.655000	0.94253	CGC	CNTNAP2	-	NULL	ENSG00000174469		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	-	0.00	69	0	C			147675066	+1	tier1	rs200089329	no_errors	ENST00000361727	ensembl	human	known	74_37	missense	36.96	29	17	SNP	1.000	T
COL14A1	7373	genome.wustl.edu	37	8	121301870	121301870	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:121301870T>G	ENST00000297848.3	+	34	4371	c.4101T>G	c.(4099-4101)acT>acG	p.T1367T	COL14A1_ENST00000247781.3_Silent_p.T1272T|COL14A1_ENST00000309791.4_Silent_p.T1367T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAGTGAGACTTTGGTCAAAG	0.383																																																	0													152.0	136.0	141.0					8																	121301870		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4101T>G	8.37:g.121301870T>G				Silent	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T1367	ENST00000297848.3	37	c.4101	CCDS34938.1	8																																																																																			COL14A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000187955		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0.00	100	0	T	NM_021110		121301870	+1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	silent	6.84	109	8	SNP	0.394	G
COL14A1	7373	genome.wustl.edu	37	8	121301870	121301870	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:121301870T>G	ENST00000297848.3	+	34	4371	c.4101T>G	c.(4099-4101)acT>acG	p.T1367T	COL14A1_ENST00000247781.3_Silent_p.T1272T|COL14A1_ENST00000309791.4_Silent_p.T1367T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAGTGAGACTTTGGTCAAAG	0.383																																																	0													152.0	136.0	141.0					8																	121301870		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4101T>G	8.37:g.121301870T>G				Silent	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T1367	ENST00000297848.3	37	c.4101	CCDS34938.1	8																																																																																			COL14A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000187955		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0.00	102	0	T	NM_021110		121301870	+1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	silent	6.84	109	8	SNP	0.394	G
COL24A1	255631	genome.wustl.edu	37	1	86249802	86249802	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:86249802G>T	ENST00000370571.2	-	50	4581	c.4215C>A	c.(4213-4215)ggC>ggA	p.G1405G	COL24A1_ENST00000436319.1_Silent_p.G1405G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1405	Collagen-like 16.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G1405G(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATACTTTAGGGCCTGGGAATC	0.353																																																	1	Substitution - coding silent(1)	endometrium(1)											76.0	73.0	74.0					1																	86249802		1825	4087	5912	SO:0001819	synonymous_variant	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4215C>A	1.37:g.86249802G>T			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G1405	ENST00000370571.2	37	c.4215	CCDS41353.1	1																																																																																			COL24A1	-	NULL	ENSG00000171502		0.353	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4		0.00	83	0	G	NM_152890		86249802	-1			no_errors	ENST00000370571	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.741	T
COL24A1	255631	genome.wustl.edu	37	1	86362043	86362043	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:86362043G>T	ENST00000370571.2	-	29	3194	c.2828C>A	c.(2827-2829)gCc>gAc	p.A943D	COL24A1_ENST00000436319.1_Missense_Mutation_p.A943D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	943	Collagen-like 7.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A943D(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GATTACCTTGGCACCTTGTAT	0.313																																																	1	Substitution - Missense(1)	lung(1)											114.0	108.0	110.0					1																	86362043		1832	4087	5919	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2828C>A	1.37:g.86362043G>T	ENSP00000359603:p.Ala943Asp		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.A943D	ENST00000370571.2	37	c.2828	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691708	0.48097	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93488	-1.78;-3.23	5.46	-0.273	0.12915	.	0.000000	0.38492	N	0.001677	T	0.78387	0.4275	N	0.16066	0.365	0.25809	N	0.984419	P;P	0.46395	0.729;0.877	B;P	0.53224	0.222;0.721	T	0.76798	-0.2826	10	0.12103	T	0.63	.	4.6302	0.12498	0.4301:0.2859:0.284:0.0	.	943;943	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	D	943	ENSP00000359603:A943D;ENSP00000392531:A943D	ENSP00000359603:A943D	A	-	2	0	COL24A1	86134631	0.535000	0.26370	0.996000	0.52242	0.996000	0.88848	-0.019000	0.12546	0.276000	0.22118	0.655000	0.94253	GCC	COL24A1	-	NULL	ENSG00000171502		0.313	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	-	0.00	101	0	G	NM_152890		86362043	-1	tier1	-	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.850	T
COL24A1	255631	genome.wustl.edu	37	1	86362043	86362043	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:86362043G>T	ENST00000370571.2	-	29	3194	c.2828C>A	c.(2827-2829)gCc>gAc	p.A943D	COL24A1_ENST00000436319.1_Missense_Mutation_p.A943D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	943	Collagen-like 7.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A943D(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GATTACCTTGGCACCTTGTAT	0.313																																																	1	Substitution - Missense(1)	lung(1)											114.0	108.0	110.0					1																	86362043		1832	4087	5919	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2828C>A	1.37:g.86362043G>T	ENSP00000359603:p.Ala943Asp		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.A943D	ENST00000370571.2	37	c.2828	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691708	0.48097	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93488	-1.78;-3.23	5.46	-0.273	0.12915	.	0.000000	0.38492	N	0.001677	T	0.78387	0.4275	N	0.16066	0.365	0.25809	N	0.984419	P;P	0.46395	0.729;0.877	B;P	0.53224	0.222;0.721	T	0.76798	-0.2826	10	0.12103	T	0.63	.	4.6302	0.12498	0.4301:0.2859:0.284:0.0	.	943;943	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	D	943	ENSP00000359603:A943D;ENSP00000392531:A943D	ENSP00000359603:A943D	A	-	2	0	COL24A1	86134631	0.535000	0.26370	0.996000	0.52242	0.996000	0.88848	-0.019000	0.12546	0.276000	0.22118	0.655000	0.94253	GCC	COL24A1	-	NULL	ENSG00000171502		0.313	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	-	0.00	58	0	G	NM_152890		86362043	-1	tier1	-	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.850	T
COL6A4P1	344875	genome.wustl.edu	37	3	15219144	15219144	+	RNA	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:15219144T>G	ENST00000446690.2	-	0	799					NR_027927.1				collagen, type VI, alpha 4 pseudogene 1																		TATCACAGAGTTCCTGCCGCA	0.468																																																	0																																												0			AB299979		3p25.1	2013-01-16	2010-05-24	2010-05-24	ENSG00000230524	ENSG00000230524		"""Collagens"""	33484	pseudogene	pseudogene	"""von Willebrand factor A domain containing 6"", ""collagen, type VI, alpha 4"", ""collagen, type VI, alpha 4, pseudogene"""	612397	"""dual von Willebrand factor A domains"""	DVWA		19507504, 19486942	Standard	NR_027927		Approved	VWA6, DIVA, COL6A4, COL6A4P	uc011avo.1		OTTHUMG00000154983		3.37:g.15219144T>G				RNA	SNP	-	NULL	ENST00000446690.2	37	NULL		3																																																																																			COL6A4P1	-	-	ENSG00000230524		0.468	COL6A4P1-002	KNOWN	basic	processed_transcript	COL6A4P1	HGNC	pseudogene	OTTHUMT00000337912.1	-	0.00	41	0	T	NR_027927		15219144	-1	tier1	-	no_errors	ENST00000446690	ensembl	human	known	74_37	rna	14.29	24	4	SNP	0.000	G
COL6A4P1	344875	genome.wustl.edu	37	3	15219144	15219144	+	RNA	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:15219144T>G	ENST00000446690.2	-	0	799					NR_027927.1				collagen, type VI, alpha 4 pseudogene 1																		TATCACAGAGTTCCTGCCGCA	0.468																																																	0																																												0			AB299979		3p25.1	2013-01-16	2010-05-24	2010-05-24	ENSG00000230524	ENSG00000230524		"""Collagens"""	33484	pseudogene	pseudogene	"""von Willebrand factor A domain containing 6"", ""collagen, type VI, alpha 4"", ""collagen, type VI, alpha 4, pseudogene"""	612397	"""dual von Willebrand factor A domains"""	DVWA		19507504, 19486942	Standard	NR_027927		Approved	VWA6, DIVA, COL6A4, COL6A4P	uc011avo.1		OTTHUMG00000154983		3.37:g.15219144T>G				RNA	SNP	-	NULL	ENST00000446690.2	37	NULL		3																																																																																			COL6A4P1	-	-	ENSG00000230524		0.468	COL6A4P1-002	KNOWN	basic	processed_transcript	COL6A4P1	HGNC	pseudogene	OTTHUMT00000337912.1	-	0.00	43	0	T	NR_027927		15219144	-1	tier1	-	no_errors	ENST00000446690	ensembl	human	known	74_37	rna	14.29	24	4	SNP	0.000	G
COL6A5	256076	genome.wustl.edu	37	3	130114047	130114047	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:130114047A>C	ENST00000432398.2	+	8	3801	c.3307A>C	c.(3307-3309)Aga>Cga	p.R1103R	COL6A5_ENST00000265379.6_Silent_p.R1103R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1103	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGGTGGGAGAAGAAATGCTGG	0.428																																																	0													109.0	101.0	103.0					3																	130114047		692	1591	2283	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3307A>C	3.37:g.130114047A>C			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1103	ENST00000432398.2	37	c.3307		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0.00	74	0	A	NM_153264		130114047	+1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	silent	12.68	62	9	SNP	0.186	C
COL6A5	256076	genome.wustl.edu	37	3	130114047	130114047	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:130114047A>C	ENST00000432398.2	+	8	3801	c.3307A>C	c.(3307-3309)Aga>Cga	p.R1103R	COL6A5_ENST00000265379.6_Silent_p.R1103R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1103	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGGTGGGAGAAGAAATGCTGG	0.428																																																	0													109.0	101.0	103.0					3																	130114047		692	1591	2283	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3307A>C	3.37:g.130114047A>C			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1103	ENST00000432398.2	37	c.3307		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0.00	84	0	A	NM_153264		130114047	+1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	silent	12.68	62	9	SNP	0.186	C
COL6A5	256076	genome.wustl.edu	37	3	130114055	130114055	+	Silent	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:130114055T>A	ENST00000432398.2	+	8	3809	c.3315T>A	c.(3313-3315)gcT>gcA	p.A1105A	COL6A5_ENST00000265379.6_Silent_p.A1105A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1105	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAAGAAATGCTGGTGTCCCCC	0.438																																																	0													116.0	106.0	109.0					3																	130114055		692	1591	2283	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3315T>A	3.37:g.130114055T>A			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A1105	ENST00000432398.2	37	c.3315		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.438	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0.00	72	0	T	NM_153264		130114055	+1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	silent	16.67	55	11	SNP	0.383	A
COL6A5	256076	genome.wustl.edu	37	3	130114055	130114055	+	Silent	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:130114055T>A	ENST00000432398.2	+	8	3809	c.3315T>A	c.(3313-3315)gcT>gcA	p.A1105A	COL6A5_ENST00000265379.6_Silent_p.A1105A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1105	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAAGAAATGCTGGTGTCCCCC	0.438																																																	0													116.0	106.0	109.0					3																	130114055		692	1591	2283	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3315T>A	3.37:g.130114055T>A			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A1105	ENST00000432398.2	37	c.3315		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.438	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0.00	85	0	T	NM_153264		130114055	+1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	silent	16.67	55	11	SNP	0.383	A
COLQ	8292	genome.wustl.edu	37	3	15512148	15512148	+	Intron	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:15512148G>A	ENST00000383788.5	-	11	762				COLQ_ENST00000383785.2_Intron|COLQ_ENST00000435459.2_Silent_p.L194L|COLQ_ENST00000383786.5_Intron|COLQ_ENST00000383781.4_Intron|COLQ_ENST00000603808.1_Intron|COLQ_ENST00000383787.2_Intron	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase						acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						AGAGAAGCAAGAGAGGACTTA	0.517																																																	0													168.0	129.0	143.0					3																	15512148		2203	4300	6503	SO:0001627	intron_variant	0			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.637-25C>T	3.37:g.15512148G>A			B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	pfam_Collagen,tigrfam_Myxo_disulph_rpt	p.L194	ENST00000383788.5	37	c.582	CCDS33709.1	3																																																																																			COLQ	-	NULL	ENSG00000206561		0.517	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	HGNC	protein_coding	OTTHUMT00000343575.1	-	0.00	137	0	G	NM_005677		15512148	-1	tier1	-	no_errors	ENST00000435459	ensembl	human	known	74_37	silent	18.00	41	9	SNP	0.010	A
COLQ	8292	genome.wustl.edu	37	3	15512148	15512148	+	Intron	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:15512148G>A	ENST00000383788.5	-	11	762				COLQ_ENST00000383785.2_Intron|COLQ_ENST00000435459.2_Silent_p.L194L|COLQ_ENST00000383786.5_Intron|COLQ_ENST00000383781.4_Intron|COLQ_ENST00000603808.1_Intron|COLQ_ENST00000383787.2_Intron	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase						acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						AGAGAAGCAAGAGAGGACTTA	0.517																																																	0													168.0	129.0	143.0					3																	15512148		2203	4300	6503	SO:0001627	intron_variant	0			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.637-25C>T	3.37:g.15512148G>A			B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	pfam_Collagen,tigrfam_Myxo_disulph_rpt	p.L194	ENST00000383788.5	37	c.582	CCDS33709.1	3																																																																																			COLQ	-	NULL	ENSG00000206561		0.517	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	HGNC	protein_coding	OTTHUMT00000343575.1	-	0.00	80	0	G	NM_005677		15512148	-1	tier1	-	no_errors	ENST00000435459	ensembl	human	known	74_37	silent	18.00	41	9	SNP	0.010	A
COL6A6	131873	genome.wustl.edu	37	3	130300658	130300658	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:130300658T>A	ENST00000358511.6	+	8	3832	c.3801T>A	c.(3799-3801)gaT>gaA	p.D1267E	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1267E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1267	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCTTGAAGGATATAACAGTTA	0.393																																																	0													162.0	157.0	159.0					3																	130300658		1898	4103	6001	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3801T>A	3.37:g.130300658T>A	ENSP00000351310:p.Asp1267Glu		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D1267E	ENST00000358511.6	37	c.3801	CCDS46911.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.017|0.017	-1.502596|-1.502596	0.00992|0.00992	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000358511;ENST00000453409|ENST00000511332	T;T|.	0.36878|.	1.23;1.23|.	6.06|6.06	-7.95|-7.95	0.01148|0.01148	von Willebrand factor, type A (2);|.	.|.	.|.	.|.	.|.	T|T	0.18882|0.18882	0.0453|0.0453	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.11329|.	0.006|.	T|T	0.28073|0.28073	-1.0055|-1.0055	9|5	0.02654|.	T|.	1|.	.|.	2.2543|2.2543	0.04052|0.04052	0.1721:0.3849:0.1849:0.2581|0.1721:0.3849:0.1849:0.2581	.|.	1267|.	A6NMZ7|.	CO6A6_HUMAN|.	E|K	1267|25	ENSP00000351310:D1267E;ENSP00000399236:D1267E|.	ENSP00000351310:D1267E|.	D|I	+|+	3|2	2|0	COL6A6|COL6A6	131783348|131783348	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.365000|-0.365000	0.07573|0.07573	-0.977000|-0.977000	0.03537|0.03537	-0.899000|-0.899000	0.02877|0.02877	GAT|ATA	COL6A6	-	smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.393	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0.00	32	0	T	NM_001102608		130300658	+1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	19.57	37	9	SNP	0.000	A
COL6A6	131873	genome.wustl.edu	37	3	130300658	130300658	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:130300658T>A	ENST00000358511.6	+	8	3832	c.3801T>A	c.(3799-3801)gaT>gaA	p.D1267E	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1267E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1267	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCTTGAAGGATATAACAGTTA	0.393																																																	0													162.0	157.0	159.0					3																	130300658		1898	4103	6001	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3801T>A	3.37:g.130300658T>A	ENSP00000351310:p.Asp1267Glu		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D1267E	ENST00000358511.6	37	c.3801	CCDS46911.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.017|0.017	-1.502596|-1.502596	0.00992|0.00992	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000358511;ENST00000453409|ENST00000511332	T;T|.	0.36878|.	1.23;1.23|.	6.06|6.06	-7.95|-7.95	0.01148|0.01148	von Willebrand factor, type A (2);|.	.|.	.|.	.|.	.|.	T|T	0.18882|0.18882	0.0453|0.0453	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.11329|.	0.006|.	T|T	0.28073|0.28073	-1.0055|-1.0055	9|5	0.02654|.	T|.	1|.	.|.	2.2543|2.2543	0.04052|0.04052	0.1721:0.3849:0.1849:0.2581|0.1721:0.3849:0.1849:0.2581	.|.	1267|.	A6NMZ7|.	CO6A6_HUMAN|.	E|K	1267|25	ENSP00000351310:D1267E;ENSP00000399236:D1267E|.	ENSP00000351310:D1267E|.	D|I	+|+	3|2	2|0	COL6A6|COL6A6	131783348|131783348	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.365000|-0.365000	0.07573|0.07573	-0.977000|-0.977000	0.03537|0.03537	-0.899000|-0.899000	0.02877|0.02877	GAT|ATA	COL6A6	-	smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.393	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0.00	51	0	T	NM_001102608		130300658	+1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	19.57	37	9	SNP	0.000	A
CORO7	79585	genome.wustl.edu	37	16	4412009	4412009	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:4412009C>T	ENST00000251166.4	-	16	1700	c.1555G>A	c.(1555-1557)Ggg>Agg	p.G519R	CORO7_ENST00000539968.1_Missense_Mutation_p.G299R|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Missense_Mutation_p.G501R|CORO7_ENST00000423908.2_Missense_Mutation_p.G351R|CORO7_ENST00000574025.1_Missense_Mutation_p.G434R|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G519R	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	519					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						ACCTGTCCCCCGCTGCTGAGC	0.652																																																	0													46.0	36.0	39.0					16																	4412009		2195	4293	6488	SO:0001583	missense	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1555G>A	16.37:g.4412009C>T	ENSP00000251166:p.Gly519Arg		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G519R	ENST00000251166.4	37	c.1555	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018298	0.75275	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.76448	-1.02;-1.02;-1.02	5.26	5.26	0.73747	.	0.056400	0.64402	D	0.000001	D	0.90521	0.7030	M	0.90705	3.14	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999;1.0	D	0.92395	0.5924	10	0.87932	D	0	-24.2008	18.4566	0.90722	0.0:1.0:0.0:0.0	.	434;501;299;299;519;500	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	R	519;434;299;351	ENSP00000251166:G519R;ENSP00000446221:G299R;ENSP00000391530:G351R	ENSP00000251166:G519R	G	-	1	0	CORO7	4352010	1.000000	0.71417	0.793000	0.32043	0.115000	0.19883	7.587000	0.82613	2.454000	0.82982	0.561000	0.74099	GGG	CORO7-PAM16	-	NULL	ENSG00000103426		0.652	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0.00	49	0	C	NM_024535		4412009	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	missense	40.74	16	11	SNP	1.000	T
CORO7	79585	genome.wustl.edu	37	16	4412009	4412009	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:4412009C>T	ENST00000251166.4	-	16	1700	c.1555G>A	c.(1555-1557)Ggg>Agg	p.G519R	CORO7_ENST00000539968.1_Missense_Mutation_p.G299R|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Missense_Mutation_p.G501R|CORO7_ENST00000423908.2_Missense_Mutation_p.G351R|CORO7_ENST00000574025.1_Missense_Mutation_p.G434R|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G519R	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	519					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						ACCTGTCCCCCGCTGCTGAGC	0.652																																																	0													46.0	36.0	39.0					16																	4412009		2195	4293	6488	SO:0001583	missense	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1555G>A	16.37:g.4412009C>T	ENSP00000251166:p.Gly519Arg		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G519R	ENST00000251166.4	37	c.1555	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018298	0.75275	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.76448	-1.02;-1.02;-1.02	5.26	5.26	0.73747	.	0.056400	0.64402	D	0.000001	D	0.90521	0.7030	M	0.90705	3.14	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999;1.0	D	0.92395	0.5924	10	0.87932	D	0	-24.2008	18.4566	0.90722	0.0:1.0:0.0:0.0	.	434;501;299;299;519;500	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	R	519;434;299;351	ENSP00000251166:G519R;ENSP00000446221:G299R;ENSP00000391530:G351R	ENSP00000251166:G519R	G	-	1	0	CORO7	4352010	1.000000	0.71417	0.793000	0.32043	0.115000	0.19883	7.587000	0.82613	2.454000	0.82982	0.561000	0.74099	GGG	CORO7-PAM16	-	NULL	ENSG00000103426		0.652	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0.00	59	0	C	NM_024535		4412009	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	missense	40.74	16	11	SNP	1.000	T
CP	1356	genome.wustl.edu	37	3	148897347	148897347	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:148897347A>C	ENST00000264613.6	-	15	2919	c.2657T>G	c.(2656-2658)gTt>gGt	p.V886G		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	886	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTTTACCTTAACTTGATCCAC	0.383																																																	0													91.0	82.0	85.0					3																	148897347		2203	4300	6503	SO:0001583	missense	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2657T>G	3.37:g.148897347A>C	ENSP00000264613:p.Val886Gly		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.V886G	ENST00000264613.6	37	c.2657	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	A	19.58	3.853804	0.71719	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.98901	-5.22;-5.22;-5.22	5.71	5.71	0.89125	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.184800	0.47852	D	0.000204	D	0.98839	0.9608	M	0.62266	1.93	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.993;0.997;0.999;0.998	D	0.99858	1.1079	10	0.52906	T	0.07	-27.4413	15.9877	0.80174	1.0:0.0:0.0:0.0	.	886;886;886;599	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	G	21;886;669	ENSP00000420367:V21G;ENSP00000264613:V886G;ENSP00000420545:V669G	ENSP00000264613:V886G	V	-	2	0	CP	150380037	0.322000	0.24634	1.000000	0.80357	0.966000	0.64601	4.322000	0.59215	2.165000	0.68154	0.455000	0.32223	GTT	CP	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000047457		0.383	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	-	0.00	58	0	A	NM_000096		148897347	-1	tier1	-	no_errors	ENST00000264613	ensembl	human	known	74_37	missense	15.25	49	9	SNP	1.000	C
CRIM1	51232	genome.wustl.edu	37	2	36706789	36706789	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:36706789T>C	ENST00000280527.2	+	7	1691	c.1324T>C	c.(1324-1326)Tgc>Cgc	p.C442R		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	442	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGGACAGACCTGCACAAACCC	0.567																																																	0													137.0	133.0	135.0					2																	36706789		2203	4300	6503	SO:0001583	missense	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1324T>C	2.37:g.36706789T>C	ENSP00000280527:p.Cys442Arg		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.C442R	ENST00000280527.2	37	c.1324	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596827	0.86953	.	.	ENSG00000150938	ENST00000280527	D	0.92149	-2.98	5.35	5.35	0.76521	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98498	1.0613	10	0.52906	T	0.07	-13.0182	14.8167	0.70039	0.0:0.0:0.0:1.0	.	442	Q9NZV1	CRIM1_HUMAN	R	442	ENSP00000280527:C442R	ENSP00000280527:C442R	C	+	1	0	CRIM1	36560293	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.997000	0.88414	2.155000	0.67459	0.533000	0.62120	TGC	CRIM1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000150938		0.567	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2		0.00	89	0	T	NM_016441		36706789	+1			no_errors	ENST00000280527	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	C
CRISP3	10321	genome.wustl.edu	37	6	49698876	49698876	+	Splice_Site	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:49698876T>A	ENST00000393666.1	-	6	616	c.610A>T	c.(610-612)Acc>Tcc	p.T204S	CRISP3_ENST00000371159.4_Splice_Site_p.T235S|CRISP3_ENST00000433368.2_Splice_Site_p.T227S|CRISP3_ENST00000263045.4_Splice_Site_p.T217S|CRISP3_ENST00000423399.2_Splice_Site_p.T114S			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	204					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TCAAACTTACTGCATAGTCCA	0.363																																																	0													94.0	87.0	90.0					6																	49698876		2203	4300	6503	SO:0001630	splice_region_variant	0			X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.610+1A>T	6.37:g.49698876T>A			A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.T227S	ENST00000393666.1	37	c.679		6	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187082	0.57909	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.14391	3.09;3.08;3.1;2.51;3.08	4.96	4.96	0.65561	Cysteine-rich secretory protein (1);	0.081824	0.47852	U	0.000217	T	0.14356	0.0347	M	0.93328	3.405	0.35278	D	0.781078	B	0.24675	0.109	B	0.23150	0.044	T	0.07328	-1.0778	9	.	.	.	.	11.2835	0.49208	0.0:0.0:0.0:1.0	.	204	P54108	CRIS3_HUMAN	S	217;227;204;114;235	ENSP00000263045:T217S;ENSP00000389026:T227S;ENSP00000377274:T204S;ENSP00000410469:T114S;ENSP00000360201:T235S	.	T	-	1	0	CRISP3	49806835	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.767000	0.62286	1.993000	0.58246	0.402000	0.26972	ACC	CRISP3	-	pfam_Cysteine_rich_secretory	ENSG00000096006		0.363	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	CRISP3	HGNC	protein_coding			0.00	65	0	T	NM_006061	Missense_Mutation	49698876	-1			no_errors	ENST00000433368	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A
CRNKL1	51340	genome.wustl.edu	37	20	20020401	20020401	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:20020401T>G	ENST00000377340.2	-	12	1911	c.1880A>C	c.(1879-1881)aAg>aCg	p.K627T	CRNKL1_ENST00000377327.4_Missense_Mutation_p.K615T|CRNKL1_ENST00000536226.1_Missense_Mutation_p.K466T|CRNKL1_ENST00000521379.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	627	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTCATAAAGCTTCCGGCATCT	0.378																																																	0													86.0	89.0	88.0					20																	20020401		2203	4300	6503	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1880A>C	20.37:g.20020401T>G	ENSP00000366557:p.Lys627Thr		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.K627T	ENST00000377340.2	37	c.1880	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	T	14.19	2.462180	0.43736	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.33654	1.4;1.4;1.4	5.97	4.87	0.63330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.041201	0.85682	D	0.000000	T	0.24275	0.0588	N	0.25094	0.71	0.80722	D	1	B	0.19200	0.034	B	0.20955	0.032	T	0.06215	-1.0839	10	0.23891	T	0.37	-31.6191	11.5173	0.50529	0.0:0.0694:0.0:0.9306	.	627	Q9BZJ0	CRNL1_HUMAN	T	615;627;466	ENSP00000366544:K615T;ENSP00000366557:K627T;ENSP00000440733:K466T	ENSP00000366544:K615T	K	-	2	0	CRNKL1	19968401	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.288000	0.72679	2.285000	0.76669	0.477000	0.44152	AAG	CRNKL1	-	smart_HAT	ENSG00000101343		0.378	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	-	0.00	115	0	T			20020401	-1	tier1	-	no_errors	ENST00000377340	ensembl	human	known	74_37	missense	5.26	90	5	SNP	1.000	G
CRNKL1	51340	genome.wustl.edu	37	20	20020401	20020401	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:20020401T>G	ENST00000377340.2	-	12	1911	c.1880A>C	c.(1879-1881)aAg>aCg	p.K627T	CRNKL1_ENST00000377327.4_Missense_Mutation_p.K615T|CRNKL1_ENST00000536226.1_Missense_Mutation_p.K466T|CRNKL1_ENST00000521379.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	627	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTCATAAAGCTTCCGGCATCT	0.378																																																	0													86.0	89.0	88.0					20																	20020401		2203	4300	6503	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1880A>C	20.37:g.20020401T>G	ENSP00000366557:p.Lys627Thr		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.K627T	ENST00000377340.2	37	c.1880	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	T	14.19	2.462180	0.43736	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.33654	1.4;1.4;1.4	5.97	4.87	0.63330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.041201	0.85682	D	0.000000	T	0.24275	0.0588	N	0.25094	0.71	0.80722	D	1	B	0.19200	0.034	B	0.20955	0.032	T	0.06215	-1.0839	10	0.23891	T	0.37	-31.6191	11.5173	0.50529	0.0:0.0694:0.0:0.9306	.	627	Q9BZJ0	CRNL1_HUMAN	T	615;627;466	ENSP00000366544:K615T;ENSP00000366557:K627T;ENSP00000440733:K466T	ENSP00000366544:K615T	K	-	2	0	CRNKL1	19968401	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.288000	0.72679	2.285000	0.76669	0.477000	0.44152	AAG	CRNKL1	-	smart_HAT	ENSG00000101343		0.378	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	-	0.00	97	0	T			20020401	-1	tier1	-	no_errors	ENST00000377340	ensembl	human	known	74_37	missense	5.26	90	5	SNP	1.000	G
CSF1R	1436	genome.wustl.edu	37	5	149441411	149441411	+	Splice_Site	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:149441411T>G	ENST00000286301.3	-	12	1919	c.1628A>C	c.(1627-1629)aAg>aCg	p.K543T	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	543	Regulatory juxtamembrane domain.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTACTTGGGCTTCTGCAGAAG	0.582																																																	0													146.0	144.0	145.0					5																	149441411		2203	4300	6503	SO:0001630	splice_region_variant	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1627-1A>C	5.37:g.149441411T>G			B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K543T	ENST00000286301.3	37	c.1628	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008326	0.75046	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	D	0.96365	-3.99	4.56	4.56	0.56223	.	0.000000	0.52532	D	0.000077	D	0.98201	0.9405	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	D	0.99267	1.0892	10	0.87932	D	0	.	14.0888	0.64975	0.0:0.0:0.0:1.0	.	395;543	B4E2Y8;P07333	.;CSF1R_HUMAN	T	543;395	ENSP00000286301:K543T	ENSP00000286301:K543T	K	-	2	0	CSF1R	149421604	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.861000	0.62969	1.910000	0.55303	0.368000	0.22195	AAG	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000182578		0.582	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2		0.00	49	0	T	NM_005211	Missense_Mutation	149441411	-1			no_errors	ENST00000286301	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	G
CSGALNACT1	55790	genome.wustl.edu	37	8	19362935	19362935	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:19362935G>T	ENST00000454498.2	-	4	1424	c.411C>A	c.(409-411)gtC>gtA	p.V137V	CSGALNACT1_ENST00000544602.1_Silent_p.V137V|CSGALNACT1_ENST00000522854.1_Silent_p.V137V|CSGALNACT1_ENST00000311540.4_Silent_p.V137V|CSGALNACT1_ENST00000332246.6_Silent_p.V137V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	137			V -> I (in dbSNP:rs17128518).		anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGGCCAGCTTGACGCCAGCAT	0.607																																																	0													70.0	68.0	69.0					8																	19362935		2203	4300	6503	SO:0001819	synonymous_variant	0			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.411C>A	8.37:g.19362935G>T			B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	pfam_Chond_GalNAc	p.V137	ENST00000454498.2	37	c.411	CCDS6010.1	8																																																																																			CSGALNACT1	-	NULL	ENSG00000147408		0.607	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	HGNC	protein_coding	OTTHUMT00000375204.1	-	0.00	22	0	G	NM_018371		19362935	-1	tier1	-	no_errors	ENST00000311540	ensembl	human	known	74_37	silent	70.00	3	7	SNP	0.987	T
CSGALNACT1	55790	genome.wustl.edu	37	8	19362935	19362935	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:19362935G>T	ENST00000454498.2	-	4	1424	c.411C>A	c.(409-411)gtC>gtA	p.V137V	CSGALNACT1_ENST00000544602.1_Silent_p.V137V|CSGALNACT1_ENST00000522854.1_Silent_p.V137V|CSGALNACT1_ENST00000311540.4_Silent_p.V137V|CSGALNACT1_ENST00000332246.6_Silent_p.V137V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	137			V -> I (in dbSNP:rs17128518).		anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGGCCAGCTTGACGCCAGCAT	0.607																																																	0													70.0	68.0	69.0					8																	19362935		2203	4300	6503	SO:0001819	synonymous_variant	0			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.411C>A	8.37:g.19362935G>T			B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	pfam_Chond_GalNAc	p.V137	ENST00000454498.2	37	c.411	CCDS6010.1	8																																																																																			CSGALNACT1	-	NULL	ENSG00000147408		0.607	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	HGNC	protein_coding	OTTHUMT00000375204.1	-	0.00	27	0	G	NM_018371		19362935	-1	tier1	-	no_errors	ENST00000311540	ensembl	human	known	74_37	silent	70.00	3	7	SNP	0.987	T
CSMD2	114784	genome.wustl.edu	37	1	34011676	34011676	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:34011676C>G	ENST00000373381.4	-	57	9237	c.9061G>C	c.(9061-9063)Gcc>Ccc	p.A3021P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2996	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCCATTGGCTTGACAGGTG	0.612																																																	0													68.0	66.0	66.0					1																	34011676		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9061G>C	1.37:g.34011676C>G	ENSP00000362479:p.Ala3021Pro		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A3021P	ENST00000373381.4	37	c.9061		1	.	.	.	.	.	.	.	.	.	.	C	4.668	0.124275	0.08931	.	.	ENSG00000121904	ENST00000373381	T	0.65178	-0.14	4.97	4.05	0.47172	Complement control module (2);Sushi/SCR/CCP (3);	0.192322	0.44483	D	0.000441	T	0.45418	0.1341	L	0.31065	0.9	0.54753	D	0.999981	B;B	0.06786	0.0;0.001	B;B	0.15484	0.013;0.013	T	0.29243	-1.0018	10	0.20519	T	0.43	.	8.4286	0.32744	0.0:0.6227:0.2974:0.0799	.	2877;3021	Q7Z408;E7EUA6	CSMD2_HUMAN;.	P	3021	ENSP00000362479:A3021P	ENSP00000241312:A2877P	A	-	1	0	CSMD2	33784263	0.242000	0.23868	0.076000	0.20297	0.022000	0.10575	0.854000	0.27791	1.312000	0.45043	0.650000	0.86243	GCC	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0.00	45	0	C	NM_052896		34011676	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.700	G
CSMD2	114784	genome.wustl.edu	37	1	34011676	34011676	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:34011676C>G	ENST00000373381.4	-	57	9237	c.9061G>C	c.(9061-9063)Gcc>Ccc	p.A3021P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2996	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCCATTGGCTTGACAGGTG	0.612																																																	0													68.0	66.0	66.0					1																	34011676		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9061G>C	1.37:g.34011676C>G	ENSP00000362479:p.Ala3021Pro		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A3021P	ENST00000373381.4	37	c.9061		1	.	.	.	.	.	.	.	.	.	.	C	4.668	0.124275	0.08931	.	.	ENSG00000121904	ENST00000373381	T	0.65178	-0.14	4.97	4.05	0.47172	Complement control module (2);Sushi/SCR/CCP (3);	0.192322	0.44483	D	0.000441	T	0.45418	0.1341	L	0.31065	0.9	0.54753	D	0.999981	B;B	0.06786	0.0;0.001	B;B	0.15484	0.013;0.013	T	0.29243	-1.0018	10	0.20519	T	0.43	.	8.4286	0.32744	0.0:0.6227:0.2974:0.0799	.	2877;3021	Q7Z408;E7EUA6	CSMD2_HUMAN;.	P	3021	ENSP00000362479:A3021P	ENSP00000241312:A2877P	A	-	1	0	CSMD2	33784263	0.242000	0.23868	0.076000	0.20297	0.022000	0.10575	0.854000	0.27791	1.312000	0.45043	0.650000	0.86243	GCC	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0.00	52	0	C	NM_052896		34011676	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.700	G
CSMD3	114788	genome.wustl.edu	37	8	113318414	113318414	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:113318414G>T	ENST00000297405.5	-	51	8137	c.7893C>A	c.(7891-7893)tcC>tcA	p.S2631S	CSMD3_ENST00000343508.3_Silent_p.S2591S|CSMD3_ENST00000455883.2_Silent_p.S2527S|CSMD3_ENST00000352409.3_Silent_p.S2561S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2631	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATCCCACAGGAAATTGCTA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													78.0	73.0	75.0					8																	113318414		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7893C>A	8.37:g.113318414G>T			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S2631	ENST00000297405.5	37	c.7893	CCDS6315.1	8																																																																																			CSMD3	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	31	0	G	NM_052900		113318414	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113318414	113318414	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:113318414G>T	ENST00000297405.5	-	51	8137	c.7893C>A	c.(7891-7893)tcC>tcA	p.S2631S	CSMD3_ENST00000343508.3_Silent_p.S2591S|CSMD3_ENST00000455883.2_Silent_p.S2527S|CSMD3_ENST00000352409.3_Silent_p.S2561S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2631	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATCCCACAGGAAATTGCTA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													78.0	73.0	75.0					8																	113318414		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7893C>A	8.37:g.113318414G>T			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S2631	ENST00000297405.5	37	c.7893	CCDS6315.1	8																																																																																			CSMD3	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	52	0	G	NM_052900		113318414	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	114448977	114448977	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:114448977T>G	ENST00000297405.5	-	1	351	c.107A>C	c.(106-108)aAg>aCg	p.K36T	CSMD3_ENST00000455883.2_Missense_Mutation_p.K36T|CSMD3_ENST00000352409.3_Missense_Mutation_p.K36T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCATTTTCTTCATCAGGAT	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													160.0	163.0	162.0					8																	114448977		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.107A>C	8.37:g.114448977T>G	ENSP00000297405:p.Lys36Thr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.K36T	ENST00000297405.5	37	c.107	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569690	0.28003	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.25414	2.13;1.8;2.13	5.82	4.63	0.57726	.	0.367343	0.19539	N	0.111858	T	0.17492	0.0420	N	0.08118	0	0.26548	N	0.973951	B;P;P;B	0.49783	0.275;0.844;0.928;0.18	B;P;P;B	0.49922	0.221;0.447;0.626;0.11	T	0.06144	-1.0843	10	0.22109	T	0.4	.	8.5911	0.33688	0.0:0.1493:0.0:0.8507	.	36;36;36;36	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	T	36	ENSP00000297405:K36T;ENSP00000412263:K36T;ENSP00000343124:K36T	ENSP00000297405:K36T	K	-	2	0	CSMD3	114518153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.958000	0.40402	0.983000	0.38602	0.533000	0.62120	AAG	CSMD3	-	NULL	ENSG00000164796		0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	76	0	T	NM_052900		114448977	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	G
CSMD3	114788	genome.wustl.edu	37	8	114448977	114448977	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:114448977T>G	ENST00000297405.5	-	1	351	c.107A>C	c.(106-108)aAg>aCg	p.K36T	CSMD3_ENST00000455883.2_Missense_Mutation_p.K36T|CSMD3_ENST00000352409.3_Missense_Mutation_p.K36T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCATTTTCTTCATCAGGAT	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													160.0	163.0	162.0					8																	114448977		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.107A>C	8.37:g.114448977T>G	ENSP00000297405:p.Lys36Thr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.K36T	ENST00000297405.5	37	c.107	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569690	0.28003	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.25414	2.13;1.8;2.13	5.82	4.63	0.57726	.	0.367343	0.19539	N	0.111858	T	0.17492	0.0420	N	0.08118	0	0.26548	N	0.973951	B;P;P;B	0.49783	0.275;0.844;0.928;0.18	B;P;P;B	0.49922	0.221;0.447;0.626;0.11	T	0.06144	-1.0843	10	0.22109	T	0.4	.	8.5911	0.33688	0.0:0.1493:0.0:0.8507	.	36;36;36;36	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	T	36	ENSP00000297405:K36T;ENSP00000412263:K36T;ENSP00000343124:K36T	ENSP00000297405:K36T	K	-	2	0	CSMD3	114518153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.958000	0.40402	0.983000	0.38602	0.533000	0.62120	AAG	CSMD3	-	NULL	ENSG00000164796		0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	78	0	T	NM_052900		114448977	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	G
CTBP1	1487	genome.wustl.edu	37	4	1244302	1244302	+	5'Flank	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:1244302G>T	ENST00000290921.6	-	0	0				CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000507044.1_RNA|CTBP1-AS2_ENST00000581398.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1_ENST00000382952.3_5'Flank	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GCCAGGCATCGGTGCAGGGGA	0.597																																																	0																																										SO:0001631	upstream_gene_variant	0			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259		4.37:g.1244302G>T	Exception_encountered		Q4W5N3|Q7Z2Q5	RNA	SNP	-	NULL	ENST00000290921.6	37	NULL	CCDS3348.1	4																																																																																			CTBP1-AS2	-	-	ENSG00000196810		0.597	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1-AS2	HGNC	protein_coding	OTTHUMT00000202938.1	-	0.00	61	0	G	NM_001328		1244302	+1	tier1	-	no_errors	ENST00000578730	ensembl	human	known	74_37	rna	8.51	43	4	SNP	0.001	T
CTBP1	1487	genome.wustl.edu	37	4	1244302	1244302	+	5'Flank	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:1244302G>T	ENST00000290921.6	-	0	0				CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000507044.1_RNA|CTBP1-AS2_ENST00000581398.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1_ENST00000382952.3_5'Flank	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GCCAGGCATCGGTGCAGGGGA	0.597																																																	0																																										SO:0001631	upstream_gene_variant	0			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259		4.37:g.1244302G>T	Exception_encountered		Q4W5N3|Q7Z2Q5	RNA	SNP	-	NULL	ENST00000290921.6	37	NULL	CCDS3348.1	4																																																																																			CTBP1-AS2	-	-	ENSG00000196810		0.597	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1-AS2	HGNC	protein_coding	OTTHUMT00000202938.1	-	0.00	79	0	G	NM_001328		1244302	+1	tier1	-	no_errors	ENST00000578730	ensembl	human	known	74_37	rna	8.51	43	4	SNP	0.001	T
CTBS	1486	genome.wustl.edu	37	1	85036366	85036366	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:85036366G>T	ENST00000370630.5	-	2	263	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	72					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.S72F(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		CCAATCATAAGATTTCCAAGT	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											92.0	93.0	93.0					1																	85036366		2203	4300	6503	SO:0001583	missense	0			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.215C>A	1.37:g.85036366G>T	ENSP00000359664:p.Ser72Tyr		Q5VX50	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.S72Y	ENST00000370630.5	37	c.215	CCDS698.1	1	.	.	.	.	.	.	.	.	.	.	G	2.573	-0.299296	0.05532	.	.	ENSG00000117151	ENST00000370630	T	0.29655	1.56	5.73	-1.58	0.08479	Chitinase II (1);Glycoside hydrolase, superfamily (1);	0.424586	0.30584	N	0.009303	T	0.02610	0.0079	N	0.05383	-0.06	0.34568	D	0.713166	B	0.02656	0.0	B	0.04013	0.001	T	0.40213	-0.9575	10	0.02654	T	1	-7.0456	4.7242	0.12933	0.2738:0.0:0.2581:0.4681	.	72	Q01459	DIAC_HUMAN	Y	72	ENSP00000359664:S72Y	ENSP00000359664:S72Y	S	-	2	0	CTBS	84808954	0.910000	0.30920	0.982000	0.44146	0.993000	0.82548	0.014000	0.13333	-0.323000	0.08602	0.561000	0.74099	TCT	CTBS	-	superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000117151		0.373	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBS	HGNC	protein_coding	OTTHUMT00000027457.2		0.00	80	0	G	NM_004388		85036366	-1			no_errors	ENST00000370630	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.927	T
CTSH	1512	genome.wustl.edu	37	15	79221834	79221834	+	Splice_Site	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:79221834C>A	ENST00000220166.5	-	8	659	c.550G>T	c.(550-552)Ggt>Tgt	p.G184C	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	184					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						CTGGGGAGACCCCTGCAAGAA	0.607																																																	0													98.0	80.0	86.0					15																	79221834		2196	4293	6489	SO:0001630	splice_region_variant	0			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.549-1G>T	15.37:g.79221834C>A			B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.G184C	ENST00000220166.5	37	c.550	CCDS10308.1	15	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327902	0.81690	.	.	ENSG00000103811	ENST00000220166;ENST00000394758;ENST00000528741	D;D	0.94330	-3.4;-3.4	4.96	4.96	0.65561	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	H	0.99117	4.435	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99044	1.0825	10	0.87932	D	0	.	13.7026	0.62618	0.0:1.0:0.0:0.0	.	184;172	P09668;E9PBP2	CATH_HUMAN;.	C	184;172;108	ENSP00000220166:G184C;ENSP00000435329:G108C	ENSP00000220166:G184C	G	-	1	0	CTSH	77008889	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.320000	0.72876	2.303000	0.77524	0.471000	0.43371	GGT	CTSH	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000103811		0.607	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSH	HGNC	protein_coding	OTTHUMT00000291370.1	-	0.00	110	0	C	NM_004390	Missense_Mutation	79221834	-1	tier1	-	no_errors	ENST00000220166	ensembl	human	known	74_37	missense	21.82	42	12	SNP	1.000	A
CTSH	1512	genome.wustl.edu	37	15	79221834	79221834	+	Splice_Site	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:79221834C>A	ENST00000220166.5	-	8	659	c.550G>T	c.(550-552)Ggt>Tgt	p.G184C	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	184					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						CTGGGGAGACCCCTGCAAGAA	0.607																																																	0													98.0	80.0	86.0					15																	79221834		2196	4293	6489	SO:0001630	splice_region_variant	0			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.549-1G>T	15.37:g.79221834C>A			B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.G184C	ENST00000220166.5	37	c.550	CCDS10308.1	15	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327902	0.81690	.	.	ENSG00000103811	ENST00000220166;ENST00000394758;ENST00000528741	D;D	0.94330	-3.4;-3.4	4.96	4.96	0.65561	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	H	0.99117	4.435	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99044	1.0825	10	0.87932	D	0	.	13.7026	0.62618	0.0:1.0:0.0:0.0	.	184;172	P09668;E9PBP2	CATH_HUMAN;.	C	184;172;108	ENSP00000220166:G184C;ENSP00000435329:G108C	ENSP00000220166:G184C	G	-	1	0	CTSH	77008889	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.320000	0.72876	2.303000	0.77524	0.471000	0.43371	GGT	CTSH	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000103811		0.607	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSH	HGNC	protein_coding	OTTHUMT00000291370.1	-	0.00	118	0	C	NM_004390	Missense_Mutation	79221834	-1	tier1	-	no_errors	ENST00000220166	ensembl	human	known	74_37	missense	21.82	42	12	SNP	1.000	A
CUBN	8029	genome.wustl.edu	37	10	16970209	16970209	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:16970209A>T	ENST00000377833.4	-	41	6283	c.6218T>A	c.(6217-6219)tTc>tAc	p.F2073Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2073	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCCGAGGTGAAGCGGATGAA	0.473																																																	0													87.0	81.0	83.0					10																	16970209		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6218T>A	10.37:g.16970209A>T	ENSP00000367064:p.Phe2073Tyr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.F2073Y	ENST00000377833.4	37	c.6218	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	A	27.4	4.827895	0.90955	.	.	ENSG00000107611	ENST00000377833	T	0.30182	1.54	5.71	5.71	0.89125	CUB (5);	0.000000	0.46442	D	0.000290	T	0.64349	0.2590	M	0.92367	3.3	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.73997	-0.3806	10	0.66056	D	0.02	.	15.9822	0.80121	1.0:0.0:0.0:0.0	.	2073	O60494	CUBN_HUMAN	Y	2073	ENSP00000367064:F2073Y	ENSP00000367064:F2073Y	F	-	2	0	CUBN	17010215	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.451000	0.90343	2.186000	0.69663	0.533000	0.62120	TTC	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0.00	76	0	A	NM_001081		16970209	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T
CUBN	8029	genome.wustl.edu	37	10	16970209	16970209	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:16970209A>T	ENST00000377833.4	-	41	6283	c.6218T>A	c.(6217-6219)tTc>tAc	p.F2073Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2073	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCCGAGGTGAAGCGGATGAA	0.473																																																	0													87.0	81.0	83.0					10																	16970209		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6218T>A	10.37:g.16970209A>T	ENSP00000367064:p.Phe2073Tyr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.F2073Y	ENST00000377833.4	37	c.6218	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	A	27.4	4.827895	0.90955	.	.	ENSG00000107611	ENST00000377833	T	0.30182	1.54	5.71	5.71	0.89125	CUB (5);	0.000000	0.46442	D	0.000290	T	0.64349	0.2590	M	0.92367	3.3	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.73997	-0.3806	10	0.66056	D	0.02	.	15.9822	0.80121	1.0:0.0:0.0:0.0	.	2073	O60494	CUBN_HUMAN	Y	2073	ENSP00000367064:F2073Y	ENSP00000367064:F2073Y	F	-	2	0	CUBN	17010215	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.451000	0.90343	2.186000	0.69663	0.533000	0.62120	TTC	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0.00	92	0	A	NM_001081		16970209	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T
CUBN	8029	genome.wustl.edu	37	10	17171223	17171223	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:17171223T>G	ENST00000377833.4	-	2	214	c.149A>C	c.(148-150)aAt>aCt	p.N50T	CUBN_ENST00000377823.1_Missense_Mutation_p.N50T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	50					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACACCAAATTTCCTCTCTC	0.348																																																	0													64.0	67.0	66.0					10																	17171223		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.149A>C	10.37:g.17171223T>G	ENSP00000367064:p.Asn50Thr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.N50T	ENST00000377833.4	37	c.149	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852404	0.71719	.	.	ENSG00000107611	ENST00000377833;ENST00000377823	T;D	0.90504	-1.1;-2.68	5.23	4.09	0.47781	.	0.000000	0.44902	D	0.000414	D	0.91868	0.7426	M	0.64997	1.995	0.39541	D	0.968828	D	0.60575	0.988	P	0.57204	0.815	D	0.92126	0.5708	10	0.56958	D	0.05	.	9.8283	0.40925	0.0:0.0833:0.0:0.9167	.	50	O60494	CUBN_HUMAN	T	50	ENSP00000367064:N50T;ENSP00000367054:N50T	ENSP00000367054:N50T	N	-	2	0	CUBN	17211229	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.818000	0.55678	2.099000	0.63709	0.482000	0.46254	AAT	CUBN	-	NULL	ENSG00000107611		0.348	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0.00	47	0	T	NM_001081		17171223	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.999	G
CUBN	8029	genome.wustl.edu	37	10	17171223	17171223	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:17171223T>G	ENST00000377833.4	-	2	214	c.149A>C	c.(148-150)aAt>aCt	p.N50T	CUBN_ENST00000377823.1_Missense_Mutation_p.N50T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	50					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACACCAAATTTCCTCTCTC	0.348																																																	0													64.0	67.0	66.0					10																	17171223		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.149A>C	10.37:g.17171223T>G	ENSP00000367064:p.Asn50Thr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.N50T	ENST00000377833.4	37	c.149	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852404	0.71719	.	.	ENSG00000107611	ENST00000377833;ENST00000377823	T;D	0.90504	-1.1;-2.68	5.23	4.09	0.47781	.	0.000000	0.44902	D	0.000414	D	0.91868	0.7426	M	0.64997	1.995	0.39541	D	0.968828	D	0.60575	0.988	P	0.57204	0.815	D	0.92126	0.5708	10	0.56958	D	0.05	.	9.8283	0.40925	0.0:0.0833:0.0:0.9167	.	50	O60494	CUBN_HUMAN	T	50	ENSP00000367064:N50T;ENSP00000367054:N50T	ENSP00000367054:N50T	N	-	2	0	CUBN	17211229	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.818000	0.55678	2.099000	0.63709	0.482000	0.46254	AAT	CUBN	-	NULL	ENSG00000107611		0.348	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0.00	77	0	T	NM_001081		17171223	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.999	G
CUL9	23113	genome.wustl.edu	37	6	43160940	43160940	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:43160940G>T	ENST00000252050.4	+	9	2466	c.2382G>T	c.(2380-2382)ggG>ggT	p.G794G	CUL9_ENST00000372647.2_Silent_p.G794G|CUL9_ENST00000354495.3_Silent_p.G684G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	794					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGCAGGCTGGGCTGGCGGTGA	0.567																																																	0													89.0	89.0	89.0					6																	43160940		2202	4299	6501	SO:0001819	synonymous_variant	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2382G>T	6.37:g.43160940G>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.G794	ENST00000252050.4	37	c.2382	CCDS4890.1	6																																																																																			CUL9	-	superfamily_ARM-type_fold	ENSG00000112659		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	-	0.00	31	0	G	NM_015089		43160940	+1	tier1	-	no_errors	ENST00000252050	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.831	T
CYFIP1	23191	genome.wustl.edu	37	15	22945048	22945048	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:22945048G>T	ENST00000313077.7	+	12	1244	c.1119G>T	c.(1117-1119)acG>acT	p.T373T	CYFIP1_ENST00000560848.1_Silent_p.T373T	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGGTGGTCACGGGCTCGGGCC	0.692																																																	0													11.0	13.0	12.0					15																	22945048		2195	4281	6476	SO:0001819	synonymous_variant	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1119G>T	15.37:g.22945048G>T				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.T373	ENST00000313077.7	37	c.1119	CCDS10009.1	15																																																																																			CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.692	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	-	0.00	32	0	G	NM_014608		22945048	+1	tier1	-	no_errors	ENST00000313077	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.132	T
CYFIP1	23191	genome.wustl.edu	37	15	22945048	22945048	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:22945048G>T	ENST00000313077.7	+	12	1244	c.1119G>T	c.(1117-1119)acG>acT	p.T373T	CYFIP1_ENST00000560848.1_Silent_p.T373T	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGGTGGTCACGGGCTCGGGCC	0.692																																																	0													11.0	13.0	12.0					15																	22945048		2195	4281	6476	SO:0001819	synonymous_variant	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1119G>T	15.37:g.22945048G>T				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.T373	ENST00000313077.7	37	c.1119	CCDS10009.1	15																																																																																			CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.692	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	-	0.00	45	0	G	NM_014608		22945048	+1	tier1	-	no_errors	ENST00000313077	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.132	T
CYP4F22	126410	genome.wustl.edu	37	19	15648359	15648359	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:15648359G>A	ENST00000269703.3	+	6	634	c.435G>A	c.(433-435)ctG>ctA	p.L145L	CYP4F22_ENST00000601005.2_Silent_p.L145L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	145						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATGGGCTGCTGCTCAGCAAAG	0.552																																																	0													59.0	61.0	60.0					19																	15648359		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.435G>A	19.37:g.15648359G>A			Q8N8H4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.L145	ENST00000269703.3	37	c.435	CCDS12331.1	19																																																																																			CYP4F22	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000171954		0.552	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2		0.00	67	0	G	NM_173483		15648359	+1			no_errors	ENST00000269703	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	A
CYP8B1	1582	genome.wustl.edu	37	3	42916054	42916054	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:42916054A>G	ENST00000316161.4	-	1	1579	c.1255T>C	c.(1255-1257)Ttc>Ctc	p.F419L	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.F419L|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	419					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTCTTGAAGAAGTCCACTTTC	0.557																																																	0													123.0	121.0	122.0					3																	42916054		2203	4300	6503	SO:0001583	missense	0			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1255T>C	3.37:g.42916054A>G	ENSP00000318867:p.Phe419Leu		B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.F419L	ENST00000316161.4	37	c.1255	CCDS2707.1	3	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745160	0.89663	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.75704	-0.49;-0.96	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000002	D	0.84056	0.5388	M	0.63169	1.94	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85851	0.1404	10	0.87932	D	0	-21.2792	14.3732	0.66854	1.0:0.0:0.0:0.0	.	419;419	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	L	419	ENSP00000404499:F419L;ENSP00000318867:F419L	ENSP00000318867:F419L	F	-	1	0	CYP8B1	42891058	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	9.228000	0.95250	2.042000	0.60477	0.379000	0.24179	TTC	CYP8B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000180432		0.557	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP8B1	HGNC	protein_coding	OTTHUMT00000256653.1	-	0.00	66	0	A	NM_004391		42916054	-1	tier1	-	no_errors	ENST00000316161	ensembl	human	known	74_37	missense	17.19	53	11	SNP	1.000	G
CYP8B1	1582	genome.wustl.edu	37	3	42916054	42916054	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:42916054A>G	ENST00000316161.4	-	1	1579	c.1255T>C	c.(1255-1257)Ttc>Ctc	p.F419L	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.F419L|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	419					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTCTTGAAGAAGTCCACTTTC	0.557																																																	0													123.0	121.0	122.0					3																	42916054		2203	4300	6503	SO:0001583	missense	0			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1255T>C	3.37:g.42916054A>G	ENSP00000318867:p.Phe419Leu		B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.F419L	ENST00000316161.4	37	c.1255	CCDS2707.1	3	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745160	0.89663	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.75704	-0.49;-0.96	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000002	D	0.84056	0.5388	M	0.63169	1.94	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85851	0.1404	10	0.87932	D	0	-21.2792	14.3732	0.66854	1.0:0.0:0.0:0.0	.	419;419	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	L	419	ENSP00000404499:F419L;ENSP00000318867:F419L	ENSP00000318867:F419L	F	-	1	0	CYP8B1	42891058	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	9.228000	0.95250	2.042000	0.60477	0.379000	0.24179	TTC	CYP8B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000180432		0.557	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP8B1	HGNC	protein_coding	OTTHUMT00000256653.1	-	0.00	80	0	A	NM_004391		42916054	-1	tier1	-	no_errors	ENST00000316161	ensembl	human	known	74_37	missense	17.19	53	11	SNP	1.000	G
DCC	1630	genome.wustl.edu	37	18	51025732	51025732	+	Silent	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:51025732T>A	ENST00000442544.2	+	27	4579	c.3963T>A	c.(3961-3963)tcT>tcA	p.S1321S	DCC_ENST00000581580.1_Silent_p.S954S|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1321					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGAGCATTCTAGCAGCGAGG	0.517																																																	0													194.0	155.0	168.0					18																	51025732		2203	4300	6503	SO:0001819	synonymous_variant	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3963T>A	18.37:g.51025732T>A				Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1321	ENST00000442544.2	37	c.3963	CCDS11952.1	18																																																																																			DCC	-	pfam_Neogenin_C	ENSG00000187323		0.517	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0.00	107	0	T	NM_005215		51025732	+1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	silent	32.00	34	16	SNP	0.993	A
DCC	1630	genome.wustl.edu	37	18	51025732	51025732	+	Silent	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:51025732T>A	ENST00000442544.2	+	27	4579	c.3963T>A	c.(3961-3963)tcT>tcA	p.S1321S	DCC_ENST00000581580.1_Silent_p.S954S|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1321					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGAGCATTCTAGCAGCGAGG	0.517																																																	0													194.0	155.0	168.0					18																	51025732		2203	4300	6503	SO:0001819	synonymous_variant	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3963T>A	18.37:g.51025732T>A				Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1321	ENST00000442544.2	37	c.3963	CCDS11952.1	18																																																																																			DCC	-	pfam_Neogenin_C	ENSG00000187323		0.517	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0.00	125	0	T	NM_005215		51025732	+1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	silent	32.00	34	16	SNP	0.993	A
DCDC1	341019	genome.wustl.edu	37	11	30915886	30915886	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:30915886T>A	ENST00000597505.1	-	33	4801	c.4802A>T	c.(4801-4803)aAg>aTg	p.K1601M	DCDC1_ENST00000406071.2_Missense_Mutation_p.K339M			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CACAGGGCTCTTGGTAGGAAC	0.478																																																	0													71.0	72.0	72.0					11																	30915886		1918	4130	6048	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4802A>T	11.37:g.30915886T>A	ENSP00000472625:p.Lys1601Met		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	NULL	p.K339M	ENST00000597505.1	37	c.1016		11	.	.	.	.	.	.	.	.	.	.	T	9.570	1.120679	0.20877	.	.	ENSG00000170959	ENST00000406071	.	.	.	5.65	1.96	0.26148	.	.	.	.	.	T	0.44787	0.1310	L	0.56769	1.78	0.09310	N	1	.	.	.	.	.	.	T	0.32508	-0.9904	6	0.44086	T	0.13	.	8.8727	0.35325	0.0:0.2867:0.0:0.7133	.	.	.	.	M	339	.	ENSP00000385936:K339M	K	-	2	0	DCDC5	30872462	0.096000	0.21769	0.078000	0.20375	0.126000	0.20510	0.489000	0.22387	0.540000	0.28808	0.533000	0.62120	AAG	DCDC1	-	NULL	ENSG00000170959		0.478	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000463167.1	-	0.00	105	0	T	NM_181807		30915886	-1	tier1	-	no_errors	ENST00000406071	ensembl	human	known	74_37	missense	20.59	54	14	SNP	0.007	A
DCDC1	341019	genome.wustl.edu	37	11	30915886	30915886	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:30915886T>A	ENST00000597505.1	-	33	4801	c.4802A>T	c.(4801-4803)aAg>aTg	p.K1601M	DCDC1_ENST00000406071.2_Missense_Mutation_p.K339M			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CACAGGGCTCTTGGTAGGAAC	0.478																																																	0													71.0	72.0	72.0					11																	30915886		1918	4130	6048	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4802A>T	11.37:g.30915886T>A	ENSP00000472625:p.Lys1601Met		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	NULL	p.K339M	ENST00000597505.1	37	c.1016		11	.	.	.	.	.	.	.	.	.	.	T	9.570	1.120679	0.20877	.	.	ENSG00000170959	ENST00000406071	.	.	.	5.65	1.96	0.26148	.	.	.	.	.	T	0.44787	0.1310	L	0.56769	1.78	0.09310	N	1	.	.	.	.	.	.	T	0.32508	-0.9904	6	0.44086	T	0.13	.	8.8727	0.35325	0.0:0.2867:0.0:0.7133	.	.	.	.	M	339	.	ENSP00000385936:K339M	K	-	2	0	DCDC5	30872462	0.096000	0.21769	0.078000	0.20375	0.126000	0.20510	0.489000	0.22387	0.540000	0.28808	0.533000	0.62120	AAG	DCDC1	-	NULL	ENSG00000170959		0.478	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000463167.1	-	0.00	82	0	T	NM_181807		30915886	-1	tier1	-	no_errors	ENST00000406071	ensembl	human	known	74_37	missense	20.59	54	14	SNP	0.007	A
DCDC1	341019	genome.wustl.edu	37	11	30915917	30915917	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:30915917C>A	ENST00000597505.1	-	33	4770	c.4771G>T	c.(4771-4773)Gca>Tca	p.A1591S	DCDC1_ENST00000406071.2_Missense_Mutation_p.A329S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGCTGACATGCCGCTACTCGC	0.463																																																	0													61.0	61.0	61.0					11																	30915917		1914	4125	6039	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4771G>T	11.37:g.30915917C>A	ENSP00000472625:p.Ala1591Ser		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	NULL	p.A329S	ENST00000597505.1	37	c.985		11	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472108	0.26423	.	.	ENSG00000170959	ENST00000406071	.	.	.	6.17	5.27	0.74061	.	.	.	.	.	T	0.51941	0.1704	M	0.61703	1.905	0.29406	N	0.861608	.	.	.	.	.	.	T	0.51172	-0.8739	6	0.28530	T	0.3	.	10.5277	0.44958	0.0:0.8516:0.0:0.1484	.	.	.	.	S	329	.	ENSP00000385936:A329S	A	-	1	0	DCDC5	30872493	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	2.451000	0.44952	1.627000	0.50400	0.655000	0.94253	GCA	DCDC1	-	NULL	ENSG00000170959		0.463	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000463167.1	-	0.00	73	0	C	NM_181807		30915917	-1	tier1	-	no_errors	ENST00000406071	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.271	A
DCDC1	341019	genome.wustl.edu	37	11	30915917	30915917	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:30915917C>A	ENST00000597505.1	-	33	4770	c.4771G>T	c.(4771-4773)Gca>Tca	p.A1591S	DCDC1_ENST00000406071.2_Missense_Mutation_p.A329S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGCTGACATGCCGCTACTCGC	0.463																																																	0													61.0	61.0	61.0					11																	30915917		1914	4125	6039	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4771G>T	11.37:g.30915917C>A	ENSP00000472625:p.Ala1591Ser		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	NULL	p.A329S	ENST00000597505.1	37	c.985		11	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472108	0.26423	.	.	ENSG00000170959	ENST00000406071	.	.	.	6.17	5.27	0.74061	.	.	.	.	.	T	0.51941	0.1704	M	0.61703	1.905	0.29406	N	0.861608	.	.	.	.	.	.	T	0.51172	-0.8739	6	0.28530	T	0.3	.	10.5277	0.44958	0.0:0.8516:0.0:0.1484	.	.	.	.	S	329	.	ENSP00000385936:A329S	A	-	1	0	DCDC5	30872493	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	2.451000	0.44952	1.627000	0.50400	0.655000	0.94253	GCA	DCDC1	-	NULL	ENSG00000170959		0.463	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000463167.1	-	0.00	87	0	C	NM_181807		30915917	-1	tier1	-	no_errors	ENST00000406071	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.271	A
DCSTAMP	81501	genome.wustl.edu	37	8	105361786	105361786	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:105361786G>A	ENST00000297581.2	+	2	1055	c.1006G>A	c.(1006-1008)Gtt>Att	p.V336I	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	336					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AGGGTTTGAGGTTCACTTGAA	0.493																																																	0													123.0	124.0	124.0					8																	105361786		2203	4300	6503	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1006G>A	8.37:g.105361786G>A	ENSP00000297581:p.Val336Ile		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.V336I	ENST00000297581.2	37	c.1006	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516179	0.44763	.	.	ENSG00000164935	ENST00000297581	T	0.29917	1.55	5.5	3.7	0.42460	Dendritic cell-specific transmembrane protein-like (1);	0.060333	0.64402	D	0.000004	T	0.29256	0.0728	M	0.69823	2.125	0.80722	D	1	P	0.47034	0.889	B	0.43658	0.426	T	0.17715	-1.0360	10	0.11794	T	0.64	-9.8388	6.0063	0.19549	0.1671:0.0:0.6794:0.1535	.	336	Q9H295	TM7S4_HUMAN	I	336	ENSP00000297581:V336I	ENSP00000297581:V336I	V	+	1	0	TM7SF4	105430962	1.000000	0.71417	0.936000	0.37596	0.863000	0.49368	2.291000	0.43540	0.687000	0.31509	0.555000	0.69702	GTT	DCSTAMP	-	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	ENSG00000164935		0.493	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1	-	0.00	69	0	G	NM_030788		105361786	+1	tier1	-	no_errors	ENST00000297581	ensembl	human	known	74_37	missense	11.86	52	7	SNP	0.993	A
DCSTAMP	81501	genome.wustl.edu	37	8	105361786	105361786	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:105361786G>A	ENST00000297581.2	+	2	1055	c.1006G>A	c.(1006-1008)Gtt>Att	p.V336I	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	336					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AGGGTTTGAGGTTCACTTGAA	0.493																																																	0													123.0	124.0	124.0					8																	105361786		2203	4300	6503	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1006G>A	8.37:g.105361786G>A	ENSP00000297581:p.Val336Ile		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.V336I	ENST00000297581.2	37	c.1006	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516179	0.44763	.	.	ENSG00000164935	ENST00000297581	T	0.29917	1.55	5.5	3.7	0.42460	Dendritic cell-specific transmembrane protein-like (1);	0.060333	0.64402	D	0.000004	T	0.29256	0.0728	M	0.69823	2.125	0.80722	D	1	P	0.47034	0.889	B	0.43658	0.426	T	0.17715	-1.0360	10	0.11794	T	0.64	-9.8388	6.0063	0.19549	0.1671:0.0:0.6794:0.1535	.	336	Q9H295	TM7S4_HUMAN	I	336	ENSP00000297581:V336I	ENSP00000297581:V336I	V	+	1	0	TM7SF4	105430962	1.000000	0.71417	0.936000	0.37596	0.863000	0.49368	2.291000	0.43540	0.687000	0.31509	0.555000	0.69702	GTT	DCSTAMP	-	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	ENSG00000164935		0.493	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1	-	0.00	95	0	G	NM_030788		105361786	+1	tier1	-	no_errors	ENST00000297581	ensembl	human	known	74_37	missense	11.86	52	7	SNP	0.993	A
DEFB110	245913	genome.wustl.edu	37	6	49986804	49986804	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:49986804G>A	ENST00000371148.2	-	2	135	c.90C>T	c.(88-90)gaC>gaT	p.D30D	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	30					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					CTCTCCTCAAGTCCAAGCTAC	0.373																																																	0													166.0	154.0	158.0					6																	49986804		2203	4300	6503	SO:0001819	synonymous_variant	0			DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.90C>T	6.37:g.49986804G>A			Q30KR0	Silent	SNP	NULL	p.D30	ENST00000371148.2	37	c.90	CCDS34475.1	6																																																																																			DEFB110	-	NULL	ENSG00000203970		0.373	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB110	HGNC	protein_coding	OTTHUMT00000359664.1	-	0.00	49	0	G	NM_001037728		49986804	-1	tier1	-	no_errors	ENST00000371148	ensembl	human	known	74_37	silent	43.75	36	28	SNP	0.654	A
DEFB110	245913	genome.wustl.edu	37	6	49986804	49986804	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:49986804G>A	ENST00000371148.2	-	2	135	c.90C>T	c.(88-90)gaC>gaT	p.D30D	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	30					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					CTCTCCTCAAGTCCAAGCTAC	0.373																																																	0													166.0	154.0	158.0					6																	49986804		2203	4300	6503	SO:0001819	synonymous_variant	0			DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.90C>T	6.37:g.49986804G>A			Q30KR0	Silent	SNP	NULL	p.D30	ENST00000371148.2	37	c.90	CCDS34475.1	6																																																																																			DEFB110	-	NULL	ENSG00000203970		0.373	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB110	HGNC	protein_coding	OTTHUMT00000359664.1	-	0.00	71	0	G	NM_001037728		49986804	-1	tier1	-	no_errors	ENST00000371148	ensembl	human	known	74_37	silent	43.75	36	28	SNP	0.654	A
DEFB124	245937	genome.wustl.edu	37	20	30053340	30053340	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:30053340G>A	ENST00000317676.2	-	2	184	c.185C>T	c.(184-186)cCt>cTt	p.P62L		NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124	62					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GACCGGTGGAGGTTTCAATGC	0.527																																																	0													134.0	117.0	123.0					20																	30053340		2203	4300	6503	SO:0001583	missense	0			DQ119827	CCDS33457.1	20q11.1	2008-07-17			ENSG00000180383	ENSG00000180383		"""Defensins, beta"""	18104	protein-coding gene	gene with protein product	"""defensin, beta 24"""					11854508, 16033865	Standard	NM_001037500		Approved	DEFB-24	uc002wvz.1	Q8NES8	OTTHUMG00000159287	ENST00000317676.2:c.185C>T	20.37:g.30053340G>A	ENSP00000326309:p.Pro62Leu		Q30E74	Missense_Mutation	SNP	NULL	p.P62L	ENST00000317676.2	37	c.185	CCDS33457.1	20	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575911	0.28092	.	.	ENSG00000180383	ENST00000317676	T	0.11495	2.77	4.14	3.18	0.36537	.	0.262010	0.27821	N	0.017703	T	0.09512	0.0234	.	.	.	0.19300	N	0.999977	B	0.30793	0.295	B	0.31686	0.134	T	0.20672	-1.0268	9	0.56958	D	0.05	-1.9017	10.0014	0.41931	0.0:0.2054:0.7946:0.0	.	62	Q8NES8	DB124_HUMAN	L	62	ENSP00000326309:P62L	ENSP00000326309:P62L	P	-	2	0	DEFB124	29517001	0.034000	0.19679	0.055000	0.19348	0.009000	0.06853	1.587000	0.36622	1.313000	0.45069	0.637000	0.83480	CCT	DEFB124	-	NULL	ENSG00000180383		0.527	DEFB124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB124	HGNC	protein_coding	OTTHUMT00000354416.1	-	0.00	74	0	G	NM_001037500		30053340	-1	tier1	-	no_errors	ENST00000317676	ensembl	human	known	74_37	missense	11.93	96	13	SNP	0.066	A
DEFB124	245937	genome.wustl.edu	37	20	30053340	30053340	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:30053340G>A	ENST00000317676.2	-	2	184	c.185C>T	c.(184-186)cCt>cTt	p.P62L		NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124	62					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GACCGGTGGAGGTTTCAATGC	0.527																																																	0													134.0	117.0	123.0					20																	30053340		2203	4300	6503	SO:0001583	missense	0			DQ119827	CCDS33457.1	20q11.1	2008-07-17			ENSG00000180383	ENSG00000180383		"""Defensins, beta"""	18104	protein-coding gene	gene with protein product	"""defensin, beta 24"""					11854508, 16033865	Standard	NM_001037500		Approved	DEFB-24	uc002wvz.1	Q8NES8	OTTHUMG00000159287	ENST00000317676.2:c.185C>T	20.37:g.30053340G>A	ENSP00000326309:p.Pro62Leu		Q30E74	Missense_Mutation	SNP	NULL	p.P62L	ENST00000317676.2	37	c.185	CCDS33457.1	20	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575911	0.28092	.	.	ENSG00000180383	ENST00000317676	T	0.11495	2.77	4.14	3.18	0.36537	.	0.262010	0.27821	N	0.017703	T	0.09512	0.0234	.	.	.	0.19300	N	0.999977	B	0.30793	0.295	B	0.31686	0.134	T	0.20672	-1.0268	9	0.56958	D	0.05	-1.9017	10.0014	0.41931	0.0:0.2054:0.7946:0.0	.	62	Q8NES8	DB124_HUMAN	L	62	ENSP00000326309:P62L	ENSP00000326309:P62L	P	-	2	0	DEFB124	29517001	0.034000	0.19679	0.055000	0.19348	0.009000	0.06853	1.587000	0.36622	1.313000	0.45069	0.637000	0.83480	CCT	DEFB124	-	NULL	ENSG00000180383		0.527	DEFB124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB124	HGNC	protein_coding	OTTHUMT00000354416.1	-	0.00	98	0	G	NM_001037500		30053340	-1	tier1	-	no_errors	ENST00000317676	ensembl	human	known	74_37	missense	11.93	96	13	SNP	0.066	A
DENND3	22898	genome.wustl.edu	37	8	142148124	142148124	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:142148124G>T	ENST00000262585.2	+	3	427	c.149G>T	c.(148-150)gGt>gTt	p.G50V	DENND3_ENST00000424248.1_Missense_Mutation_p.G50V|DENND3_ENST00000519811.1_Missense_Mutation_p.G130V|DENND3_ENST00000518347.1_Missense_Mutation_p.G130V	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	50	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGCAGGGGGTGTGTGCGTG	0.552																																																	0													96.0	74.0	82.0					8																	142148124		2203	4300	6503	SO:0001583	missense	0			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.149G>T	8.37:g.142148124G>T	ENSP00000262585:p.Gly50Val		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.G50V	ENST00000262585.2	37	c.149	CCDS34947.1	8	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309711	0.81247	.	.	ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.19	5.19	0.71726	uDENN (2);	0.148479	0.64402	D	0.000011	T	0.71937	0.3399	M	0.71581	2.175	0.80722	D	1	D;P;D;P	0.76494	0.986;0.935;0.999;0.725	P;P;D;P	0.67103	0.862;0.739;0.949;0.541	T	0.75684	-0.3232	10	0.87932	D	0	-16.6326	18.7062	0.91639	0.0:0.0:1.0:0.0	.	130;50;130;130	E9PF32;A2RUS2;E5RHH2;E5RIR7	.;DEND3_HUMAN;.;.	V	63;130;50;50;130;130;130	ENSP00000430625:G63V;ENSP00000430695:G130V;ENSP00000262585:G50V;ENSP00000410594:G50V;ENSP00000428714:G130V;ENSP00000429780:G130V;ENSP00000430786:G130V	ENSP00000262585:G50V	G	+	2	0	DENND3	142217306	1.000000	0.71417	0.334000	0.25495	0.879000	0.50718	6.729000	0.74775	2.392000	0.81423	0.585000	0.79938	GGT	DENND3	-	pfam_uDENN_dom,pfscan_uDENN_dom	ENSG00000105339		0.552	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding		-	0.00	79	0	G	NM_014957		142148124	+1	tier1	-	no_errors	ENST00000262585	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.992	T
DENND3	22898	genome.wustl.edu	37	8	142148124	142148124	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:142148124G>T	ENST00000262585.2	+	3	427	c.149G>T	c.(148-150)gGt>gTt	p.G50V	DENND3_ENST00000424248.1_Missense_Mutation_p.G50V|DENND3_ENST00000519811.1_Missense_Mutation_p.G130V|DENND3_ENST00000518347.1_Missense_Mutation_p.G130V	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	50	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGCAGGGGGTGTGTGCGTG	0.552																																																	0													96.0	74.0	82.0					8																	142148124		2203	4300	6503	SO:0001583	missense	0			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.149G>T	8.37:g.142148124G>T	ENSP00000262585:p.Gly50Val		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.G50V	ENST00000262585.2	37	c.149	CCDS34947.1	8	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309711	0.81247	.	.	ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.19	5.19	0.71726	uDENN (2);	0.148479	0.64402	D	0.000011	T	0.71937	0.3399	M	0.71581	2.175	0.80722	D	1	D;P;D;P	0.76494	0.986;0.935;0.999;0.725	P;P;D;P	0.67103	0.862;0.739;0.949;0.541	T	0.75684	-0.3232	10	0.87932	D	0	-16.6326	18.7062	0.91639	0.0:0.0:1.0:0.0	.	130;50;130;130	E9PF32;A2RUS2;E5RHH2;E5RIR7	.;DEND3_HUMAN;.;.	V	63;130;50;50;130;130;130	ENSP00000430625:G63V;ENSP00000430695:G130V;ENSP00000262585:G50V;ENSP00000410594:G50V;ENSP00000428714:G130V;ENSP00000429780:G130V;ENSP00000430786:G130V	ENSP00000262585:G50V	G	+	2	0	DENND3	142217306	1.000000	0.71417	0.334000	0.25495	0.879000	0.50718	6.729000	0.74775	2.392000	0.81423	0.585000	0.79938	GGT	DENND3	-	pfam_uDENN_dom,pfscan_uDENN_dom	ENSG00000105339		0.552	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding		-	0.00	93	0	G	NM_014957		142148124	+1	tier1	-	no_errors	ENST00000262585	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.992	T
DENND4B	9909	genome.wustl.edu	37	1	153913489	153913489	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:153913489C>T	ENST00000361217.4	-	9	1635	c.1217G>A	c.(1216-1218)gGc>gAc	p.G406D		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	406	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCTCAGGGCCCAGGCTCTG	0.642																																																	0													13.0	17.0	16.0					1																	153913489		2052	4169	6221	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1217G>A	1.37:g.153913489C>T	ENSP00000354597:p.Gly406Asp		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G406D	ENST00000361217.4	37	c.1217	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673206	0.88445	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.12255	2.7;2.7	4.11	4.11	0.48088	DENN (3);	0.060403	0.64402	D	0.000004	T	0.26666	0.0652	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01853	-1.1260	10	0.52906	T	0.07	-10.9264	15.6194	0.76793	0.0:1.0:0.0:0.0	.	406	O75064	DEN4B_HUMAN	D	406;417	ENSP00000354597:G406D;ENSP00000357635:G417D	ENSP00000354597:G406D	G	-	2	0	DENND4B	152180113	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.736000	0.62059	2.294000	0.77228	0.462000	0.41574	GGC	DENND4B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000198837		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0.00	29	0	C	XM_375806		153913489	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	T
DENND4B	9909	genome.wustl.edu	37	1	153913489	153913489	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:153913489C>T	ENST00000361217.4	-	9	1635	c.1217G>A	c.(1216-1218)gGc>gAc	p.G406D		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	406	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCTCAGGGCCCAGGCTCTG	0.642																																																	0													13.0	17.0	16.0					1																	153913489		2052	4169	6221	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1217G>A	1.37:g.153913489C>T	ENSP00000354597:p.Gly406Asp		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G406D	ENST00000361217.4	37	c.1217	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673206	0.88445	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.12255	2.7;2.7	4.11	4.11	0.48088	DENN (3);	0.060403	0.64402	D	0.000004	T	0.26666	0.0652	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01853	-1.1260	10	0.52906	T	0.07	-10.9264	15.6194	0.76793	0.0:1.0:0.0:0.0	.	406	O75064	DEN4B_HUMAN	D	406;417	ENSP00000354597:G406D;ENSP00000357635:G417D	ENSP00000354597:G406D	G	-	2	0	DENND4B	152180113	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.736000	0.62059	2.294000	0.77228	0.462000	0.41574	GGC	DENND4B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000198837		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0.00	45	0	C	XM_375806		153913489	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	T
DGKB	1607	genome.wustl.edu	37	7	14797303	14797303	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:14797303G>A	ENST00000403951.2	-	3	543	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	DGKB_ENST00000444700.2_Missense_Mutation_p.L42F|DGKB_ENST00000406247.3_Missense_Mutation_p.L42F|DGKB_ENST00000402815.1_Missense_Mutation_p.L42F|DGKB_ENST00000258767.5_Missense_Mutation_p.L42F|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.L42F|DGKB_ENST00000407950.1_Missense_Mutation_p.L42F			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	42					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TACTTTGCAAGCACACCATTA	0.299																																																	0													83.0	82.0	83.0					7																	14797303		1814	4064	5878	SO:0001583	missense	0			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.124C>T	7.37:g.14797303G>A	ENSP00000385780:p.Leu42Phe		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L42F	ENST00000403951.2	37	c.124	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743832	0.49151	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000002	T	0.59972	0.2233	L	0.54323	1.7	0.39669	D	0.970732	D;B;B;D	0.71674	0.996;0.036;0.036;0.998	D;B;B;P	0.65323	0.934;0.063;0.063;0.889	T	0.60546	-0.7242	10	0.45353	T	0.12	.	11.8567	0.52441	0.0811:0.0:0.9189:0.0	.	42;42;42;42	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	F	42	ENSP00000385780:L42F;ENSP00000382260:L42F;ENSP00000258767:L42F;ENSP00000384909:L42F;ENSP00000385031:L42F;ENSP00000388451:L42F;ENSP00000386066:L42F;ENSP00000405569:L42F	ENSP00000258767:L42F	L	-	1	0	DGKB	14763828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.287000	0.59001	2.650000	0.89964	0.650000	0.86243	CTT	DGKB	-	NULL	ENSG00000136267		0.299	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	-	0.00	150	0	G	NM_004080		14797303	-1	tier1	-	no_errors	ENST00000258767	ensembl	human	known	74_37	missense	6.49	144	10	SNP	1.000	A
DGKB	1607	genome.wustl.edu	37	7	14797303	14797303	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:14797303G>A	ENST00000403951.2	-	3	543	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	DGKB_ENST00000444700.2_Missense_Mutation_p.L42F|DGKB_ENST00000406247.3_Missense_Mutation_p.L42F|DGKB_ENST00000402815.1_Missense_Mutation_p.L42F|DGKB_ENST00000258767.5_Missense_Mutation_p.L42F|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.L42F|DGKB_ENST00000407950.1_Missense_Mutation_p.L42F			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	42					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TACTTTGCAAGCACACCATTA	0.299																																																	0													83.0	82.0	83.0					7																	14797303		1814	4064	5878	SO:0001583	missense	0			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.124C>T	7.37:g.14797303G>A	ENSP00000385780:p.Leu42Phe		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L42F	ENST00000403951.2	37	c.124	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743832	0.49151	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000002	T	0.59972	0.2233	L	0.54323	1.7	0.39669	D	0.970732	D;B;B;D	0.71674	0.996;0.036;0.036;0.998	D;B;B;P	0.65323	0.934;0.063;0.063;0.889	T	0.60546	-0.7242	10	0.45353	T	0.12	.	11.8567	0.52441	0.0811:0.0:0.9189:0.0	.	42;42;42;42	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	F	42	ENSP00000385780:L42F;ENSP00000382260:L42F;ENSP00000258767:L42F;ENSP00000384909:L42F;ENSP00000385031:L42F;ENSP00000388451:L42F;ENSP00000386066:L42F;ENSP00000405569:L42F	ENSP00000258767:L42F	L	-	1	0	DGKB	14763828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.287000	0.59001	2.650000	0.89964	0.650000	0.86243	CTT	DGKB	-	NULL	ENSG00000136267		0.299	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	-	0.00	99	0	G	NM_004080		14797303	-1	tier1	-	no_errors	ENST00000258767	ensembl	human	known	74_37	missense	6.49	144	10	SNP	1.000	A
DHX32	55760	genome.wustl.edu	37	10	127527584	127527584	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:127527584C>A	ENST00000284690.3	-	9	2357	c.1867G>T	c.(1867-1869)Ggt>Tgt	p.G623C	BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.G542C|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.G247C	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	623						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.G623S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATAAAGTAACCGGACAGAAGA	0.453																																																	1	Substitution - Missense(1)	endometrium(1)											233.0	233.0	233.0					10																	127527584		2203	4300	6503	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1867G>T	10.37:g.127527584C>A	ENSP00000284690:p.Gly623Cys		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.G623C	ENST00000284690.3	37	c.1867	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385478	0.82792	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.46451	0.87;2.81;2.57	5.02	5.02	0.67125	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82635	-0.0360	10	0.87932	D	0	-30.2538	17.509	0.87755	0.0:1.0:0.0:0.0	.	623	Q7L7V1	DHX32_HUMAN	C	247;623;542	ENSP00000357710:G247C;ENSP00000284690:G623C;ENSP00000284688:G542C	ENSP00000284688:G542C	G	-	1	0	DHX32	127517574	1.000000	0.71417	0.487000	0.27428	0.861000	0.49209	7.413000	0.80104	2.597000	0.87782	0.655000	0.94253	GGT	DHX32	-	pfam_DUF1605	ENSG00000089876		0.453	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2		0.00	86	0	C	NM_018180		127527584	-1			no_errors	ENST00000284690	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.999	A
DIP2B	57609	genome.wustl.edu	37	12	51138500	51138500	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:51138500G>A	ENST00000301180.5	+	38	4643	c.4609G>A	c.(4609-4611)Gtg>Atg	p.V1537M	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1537	Poly-Val.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CGTTGGCGTCGTGGTTGTGGT	0.552																																																	0													161.0	123.0	136.0					12																	51138500		2203	4300	6503	SO:0001583	missense	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4609G>A	12.37:g.51138500G>A	ENSP00000301180:p.Val1537Met		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V1537M	ENST00000301180.5	37	c.4609	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445569	0.84101	.	.	ENSG00000066084	ENST00000301180	T	0.13307	2.6	5.55	5.55	0.83447	.	0.057919	0.64402	D	0.000002	T	0.49321	0.1550	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57929	-0.7726	10	0.87932	D	0	-16.8726	19.7069	0.96076	0.0:0.0:1.0:0.0	.	1537	Q9P265	DIP2B_HUMAN	M	1537	ENSP00000301180:V1537M	ENSP00000301180:V1537M	V	+	1	0	DIP2B	49424767	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	9.601000	0.98297	2.894000	0.99253	0.591000	0.81541	GTG	DIP2B	-	NULL	ENSG00000066084		0.552	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	-	0.00	48	0	G	NM_173602		51138500	+1	tier1	-	no_errors	ENST00000301180	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	A
DIP2B	57609	genome.wustl.edu	37	12	51138500	51138500	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:51138500G>A	ENST00000301180.5	+	38	4643	c.4609G>A	c.(4609-4611)Gtg>Atg	p.V1537M	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1537	Poly-Val.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CGTTGGCGTCGTGGTTGTGGT	0.552																																																	0													161.0	123.0	136.0					12																	51138500		2203	4300	6503	SO:0001583	missense	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4609G>A	12.37:g.51138500G>A	ENSP00000301180:p.Val1537Met		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V1537M	ENST00000301180.5	37	c.4609	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445569	0.84101	.	.	ENSG00000066084	ENST00000301180	T	0.13307	2.6	5.55	5.55	0.83447	.	0.057919	0.64402	D	0.000002	T	0.49321	0.1550	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57929	-0.7726	10	0.87932	D	0	-16.8726	19.7069	0.96076	0.0:0.0:1.0:0.0	.	1537	Q9P265	DIP2B_HUMAN	M	1537	ENSP00000301180:V1537M	ENSP00000301180:V1537M	V	+	1	0	DIP2B	49424767	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	9.601000	0.98297	2.894000	0.99253	0.591000	0.81541	GTG	DIP2B	-	NULL	ENSG00000066084		0.552	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	-	0.00	53	0	G	NM_173602		51138500	+1	tier1	-	no_errors	ENST00000301180	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	A
DLD	1738	genome.wustl.edu	37	7	107542800	107542800	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:107542800G>T	ENST00000205402.5	+	4	510	c.229G>T	c.(229-231)Ggt>Tgt	p.G77C	DLD_ENST00000440410.1_Intron|DLD_ENST00000494441.1_3'UTR|DLD_ENST00000437604.2_Missense_Mutation_p.G77C|DLD_ENST00000537148.1_Intron	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	77					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TGAAACACTTGGTGGAACATG	0.363																																																	0													301.0	264.0	277.0					7																	107542800		2203	4300	6503	SO:0001583	missense	0			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.229G>T	7.37:g.107542800G>T	ENSP00000205402:p.Gly77Cys		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH	p.G77C	ENST00000205402.5	37	c.229	CCDS5749.1	7	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309915	0.81247	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000437604;ENST00000539590	T;T;T	0.76839	-1.05;-1.05;0.62	6.17	5.29	0.74685	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93919	0.8054	H	0.99609	4.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96931	0.9681	10	0.87932	D	0	-15.5456	16.7039	0.85366	0.0:0.1294:0.8706:0.0	.	77;77	B4DT69;P09622	.;DLDH_HUMAN	C	77;77;77;27	ENSP00000205402:G77C;ENSP00000390667:G77C;ENSP00000387542:G77C	ENSP00000205402:G77C	G	+	1	0	DLD	107330036	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.450000	0.90340	1.609000	0.50190	-0.175000	0.13238	GGT	DLD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,pfam_GIDA-rel,tigrfam_Lipoamide_DH	ENSG00000091140		0.363	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLD	HGNC	protein_coding	OTTHUMT00000337194.3	-	0.00	69	0	G	NM_000108		107542800	+1	tier1	-	no_errors	ENST00000205402	ensembl	human	known	74_37	missense	8.45	65	6	SNP	1.000	T
DLGAP1	9229	genome.wustl.edu	37	18	3534291	3534291	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:3534291G>T	ENST00000315677.3	-	10	2975	c.2380C>A	c.(2380-2382)Cac>Aac	p.H794N	DLGAP1_ENST00000400147.2_Missense_Mutation_p.H492N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.H794N|DLGAP1_ENST00000400149.3_Missense_Mutation_p.H484N|DLGAP1_ENST00000581699.1_Missense_Mutation_p.H500N|DLGAP1_ENST00000400145.2_Missense_Mutation_p.H492N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.H794N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.H794N|DLGAP1_ENST00000400155.1_Missense_Mutation_p.H500N|DLGAP1_ENST00000534970.1_Missense_Mutation_p.H478N|DLGAP1_ENST00000539435.1_Missense_Mutation_p.H502N|DLGAP1_ENST00000400150.3_Missense_Mutation_p.H510N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	794					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGGAACCAGTGGCCATCCCGG	0.582																																																	0													91.0	81.0	84.0					18																	3534291		2203	4300	6503	SO:0001583	missense	0			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2380C>A	18.37:g.3534291G>T	ENSP00000316377:p.His794Asn		A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.H794N	ENST00000315677.3	37	c.2380	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927410	0.52759	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.93	5.93	0.95920	.	0.049350	0.85682	D	0.000000	T	0.19565	0.0470	N	0.19112	0.55	0.53688	D	0.999974	P;B;B;P;B;P;B;B	0.43231	0.801;0.425;0.037;0.801;0.037;0.763;0.037;0.013	B;B;B;P;B;B;B;B	0.46419	0.315;0.315;0.06;0.516;0.06;0.21;0.038;0.022	T	0.00945	-1.1505	10	0.38643	T	0.18	-34.0766	20.3311	0.98718	0.0:0.0:1.0:0.0	.	794;478;490;500;502;492;794;492	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	N	794;492;510;484;500;478;502;492;794	ENSP00000316377:H794N;ENSP00000383011:H492N;ENSP00000383014:H510N;ENSP00000383013:H484N;ENSP00000383019:H500N;ENSP00000437817:H478N;ENSP00000446312:H502N;ENSP00000383010:H492N;ENSP00000445973:H794N	ENSP00000316377:H794N	H	-	1	0	DLGAP1	3524291	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.863000	0.87023	2.797000	0.96272	0.655000	0.94253	CAC	DLGAP1	-	pfam_GKAP	ENSG00000170579		0.582	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	-	0.00	42	0	G			3534291	-1	tier1	-	no_errors	ENST00000315677	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
DLGAP1	9229	genome.wustl.edu	37	18	3534291	3534291	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:3534291G>T	ENST00000315677.3	-	10	2975	c.2380C>A	c.(2380-2382)Cac>Aac	p.H794N	DLGAP1_ENST00000400147.2_Missense_Mutation_p.H492N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.H794N|DLGAP1_ENST00000400149.3_Missense_Mutation_p.H484N|DLGAP1_ENST00000581699.1_Missense_Mutation_p.H500N|DLGAP1_ENST00000400145.2_Missense_Mutation_p.H492N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.H794N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.H794N|DLGAP1_ENST00000400155.1_Missense_Mutation_p.H500N|DLGAP1_ENST00000534970.1_Missense_Mutation_p.H478N|DLGAP1_ENST00000539435.1_Missense_Mutation_p.H502N|DLGAP1_ENST00000400150.3_Missense_Mutation_p.H510N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	794					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGGAACCAGTGGCCATCCCGG	0.582																																																	0													91.0	81.0	84.0					18																	3534291		2203	4300	6503	SO:0001583	missense	0			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2380C>A	18.37:g.3534291G>T	ENSP00000316377:p.His794Asn		A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.H794N	ENST00000315677.3	37	c.2380	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927410	0.52759	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.93	5.93	0.95920	.	0.049350	0.85682	D	0.000000	T	0.19565	0.0470	N	0.19112	0.55	0.53688	D	0.999974	P;B;B;P;B;P;B;B	0.43231	0.801;0.425;0.037;0.801;0.037;0.763;0.037;0.013	B;B;B;P;B;B;B;B	0.46419	0.315;0.315;0.06;0.516;0.06;0.21;0.038;0.022	T	0.00945	-1.1505	10	0.38643	T	0.18	-34.0766	20.3311	0.98718	0.0:0.0:1.0:0.0	.	794;478;490;500;502;492;794;492	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	N	794;492;510;484;500;478;502;492;794	ENSP00000316377:H794N;ENSP00000383011:H492N;ENSP00000383014:H510N;ENSP00000383013:H484N;ENSP00000383019:H500N;ENSP00000437817:H478N;ENSP00000446312:H502N;ENSP00000383010:H492N;ENSP00000445973:H794N	ENSP00000316377:H794N	H	-	1	0	DLGAP1	3524291	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.863000	0.87023	2.797000	0.96272	0.655000	0.94253	CAC	DLGAP1	-	pfam_GKAP	ENSG00000170579		0.582	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	-	0.00	64	0	G			3534291	-1	tier1	-	no_errors	ENST00000315677	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
DMBT1	1755	genome.wustl.edu	37	10	124390531	124390531	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:124390531G>A	ENST00000338354.3	+	46	5799	c.5693G>A	c.(5692-5694)cGt>cAt	p.R1898H	DMBT1_ENST00000368955.3_Missense_Mutation_p.R1888H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1888H|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1898H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1270H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R618H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1270H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1898	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTGCCGGGCGTGTAGAAATT	0.493																																					Ovarian(182;93 2026 18125 22222 38972)												0													132.0	126.0	128.0					10																	124390531		1972	4139	6111	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5693G>A	10.37:g.124390531G>A	ENSP00000342210:p.Arg1898His		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.R1898H	ENST00000338354.3	37	c.5693		10	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956427	0.92726	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.3	5.3	0.74995	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.72145	0.3424	H	0.94345	3.525	0.47994	D	0.999564	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.985;1.0;0.999	D;D;D;D;B;D;D	0.97110	1.0;0.996;1.0;0.997;0.314;0.999;0.968	T	0.81019	-0.1122	9	0.72032	D	0.01	.	18.9446	0.92616	0.0:0.0:1.0:0.0	.	618;1878;1147;2027;1270;1888;1898	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	1898;2027;1898;1898;1898;1898;1270;1888;1270;1270;1898;1888;1270;44;618	ENSP00000342210:R1898H;ENSP00000343175:R1888H;ENSP00000327747:R1270H;ENSP00000357905:R1898H;ENSP00000357951:R1888H;ENSP00000357952:R1270H;ENSP00000352593:R618H	ENSP00000331522:R1270H	R	+	2	0	DMBT1	124380521	0.836000	0.29430	0.381000	0.26106	0.050000	0.14768	4.335000	0.59298	2.459000	0.83118	0.655000	0.94253	CGT	DMBT1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000187908		0.493	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	-	0.00	127	0	G	NM_004406		124390531	+1	tier1	-	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	27.00	73	27	SNP	0.994	A
DMBT1	1755	genome.wustl.edu	37	10	124390531	124390531	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:124390531G>A	ENST00000338354.3	+	46	5799	c.5693G>A	c.(5692-5694)cGt>cAt	p.R1898H	DMBT1_ENST00000368955.3_Missense_Mutation_p.R1888H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1888H|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1898H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1270H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R618H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1270H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1898	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTGCCGGGCGTGTAGAAATT	0.493																																					Ovarian(182;93 2026 18125 22222 38972)												0													132.0	126.0	128.0					10																	124390531		1972	4139	6111	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5693G>A	10.37:g.124390531G>A	ENSP00000342210:p.Arg1898His		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.R1898H	ENST00000338354.3	37	c.5693		10	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956427	0.92726	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.3	5.3	0.74995	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.72145	0.3424	H	0.94345	3.525	0.47994	D	0.999564	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.985;1.0;0.999	D;D;D;D;B;D;D	0.97110	1.0;0.996;1.0;0.997;0.314;0.999;0.968	T	0.81019	-0.1122	9	0.72032	D	0.01	.	18.9446	0.92616	0.0:0.0:1.0:0.0	.	618;1878;1147;2027;1270;1888;1898	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	1898;2027;1898;1898;1898;1898;1270;1888;1270;1270;1898;1888;1270;44;618	ENSP00000342210:R1898H;ENSP00000343175:R1888H;ENSP00000327747:R1270H;ENSP00000357905:R1898H;ENSP00000357951:R1888H;ENSP00000357952:R1270H;ENSP00000352593:R618H	ENSP00000331522:R1270H	R	+	2	0	DMBT1	124380521	0.836000	0.29430	0.381000	0.26106	0.050000	0.14768	4.335000	0.59298	2.459000	0.83118	0.655000	0.94253	CGT	DMBT1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000187908		0.493	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	-	0.00	137	0	G	NM_004406		124390531	+1	tier1	-	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	27.00	73	27	SNP	0.994	A
DMD	1756	genome.wustl.edu	37	X	32328222	32328222	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:32328222A>C	ENST00000357033.4	-	42	6300	c.6094T>G	c.(6094-6096)Ttt>Gtt	p.F2032V	DMD_ENST00000378677.2_Missense_Mutation_p.F2028V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2032					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTGCTTAAAGAGATCTTCA	0.383																																																	0													95.0	79.0	84.0					X																	32328222		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6094T>G	X.37:g.32328222A>C	ENSP00000354923:p.Phe2032Val		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.F2032V	ENST00000357033.4	37	c.6094	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000281	0.35320	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48836	0.8;0.8	6.16	6.16	0.99307	.	0.202152	0.24312	U	0.039624	T	0.40645	0.1125	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B	0.30146	0.004;0.27;0.005;0.126;0.005	B;B;B;B;B	0.31812	0.006;0.136;0.011;0.067;0.007	T	0.27640	-1.0068	10	0.28530	T	0.3	.	10.8858	0.46965	0.8455:0.1545:0.0:0.0	.	2024;2032;2028;691;688	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	V	2024;691;688;2028;2032;2032;1909	ENSP00000367948:F2028V;ENSP00000354923:F2032V	ENSP00000354923:F2032V	F	-	1	0	DMD	32238143	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.730000	0.47335	2.085000	0.62840	0.481000	0.45027	TTT	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0.00	28	0	A	NM_004006		32328222	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.997	C
DMD	1756	genome.wustl.edu	37	X	32328222	32328222	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:32328222A>C	ENST00000357033.4	-	42	6300	c.6094T>G	c.(6094-6096)Ttt>Gtt	p.F2032V	DMD_ENST00000378677.2_Missense_Mutation_p.F2028V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2032					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTGCTTAAAGAGATCTTCA	0.383																																																	0													95.0	79.0	84.0					X																	32328222		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6094T>G	X.37:g.32328222A>C	ENSP00000354923:p.Phe2032Val		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.F2032V	ENST00000357033.4	37	c.6094	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000281	0.35320	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48836	0.8;0.8	6.16	6.16	0.99307	.	0.202152	0.24312	U	0.039624	T	0.40645	0.1125	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B	0.30146	0.004;0.27;0.005;0.126;0.005	B;B;B;B;B	0.31812	0.006;0.136;0.011;0.067;0.007	T	0.27640	-1.0068	10	0.28530	T	0.3	.	10.8858	0.46965	0.8455:0.1545:0.0:0.0	.	2024;2032;2028;691;688	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	V	2024;691;688;2028;2032;2032;1909	ENSP00000367948:F2028V;ENSP00000354923:F2032V	ENSP00000354923:F2032V	F	-	1	0	DMD	32238143	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.730000	0.47335	2.085000	0.62840	0.481000	0.45027	TTT	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0.00	43	0	A	NM_004006		32328222	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.997	C
DMGDH	29958	genome.wustl.edu	37	5	78324364	78324364	+	Missense_Mutation	SNP	G	G	T	rs199926747		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:78324364G>T	ENST00000255189.3	-	12	1952	c.1924C>A	c.(1924-1926)Cag>Aag	p.Q642K	DMGDH_ENST00000380311.4_Missense_Mutation_p.Q441K|DMGDH_ENST00000540686.1_Missense_Mutation_p.Q262K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	642					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTCAGTTTCTGAAGGACCTTT	0.398																																																	0													178.0	182.0	181.0					5																	78324364		2203	4300	6503	SO:0001583	missense	0			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1924C>A	5.37:g.78324364G>T	ENSP00000255189:p.Gln642Lys		B2RBN0|B4E1J9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG	p.Q642K	ENST00000255189.3	37	c.1924	CCDS4044.1	5	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553293	0.45487	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.92	5.0	0.66597	Glycine cleavage T-protein, N-terminal (1);	0.052259	0.85682	D	0.000000	T	0.71350	0.3329	L	0.58428	1.81	0.54753	D	0.999988	B;B;B;B	0.32283	0.362;0.171;0.098;0.12	B;B;B;B	0.33121	0.11;0.096;0.041;0.158	T	0.68243	-0.5460	10	0.27785	T	0.31	.	16.5968	0.84798	0.0:0.13:0.87:0.0	.	262;441;492;642	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	K	642;481;441;262;492	ENSP00000255189:Q642K;ENSP00000430972:Q481K;ENSP00000369667:Q441K;ENSP00000439478:Q262K	ENSP00000255189:Q642K	Q	-	1	0	DMGDH	78360120	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.449000	0.80643	2.809000	0.96659	0.655000	0.94253	CAG	DMGDH	-	pfam_GCV_T_N,pfam_SoxG	ENSG00000132837		0.398	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMGDH	HGNC	protein_coding	OTTHUMT00000226963.3		0.00	72	0	G	NM_013391		78324364	-1			no_errors	ENST00000255189	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.998	T
DNAH10	196385	genome.wustl.edu	37	12	124350580	124350580	+	Missense_Mutation	SNP	G	G	T	rs375260050		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:124350580G>T	ENST00000409039.3	+	40	6798	c.6773G>T	c.(6772-6774)cGa>cTa	p.R2258L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2258	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGAAATATCGACCATACTGG	0.328																																																	0													123.0	108.0	112.0					12																	124350580		1821	4084	5905	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6773G>T	12.37:g.124350580G>T	ENSP00000386770:p.Arg2258Leu		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.R2258L	ENST00000409039.3	37	c.6773	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	5.146	0.212618	0.09757	.	.	ENSG00000197653	ENST00000409039	D	0.87179	-2.22	5.87	3.57	0.40892	.	1.454590	0.04555	U	0.390679	T	0.80363	0.4609	L	0.31752	0.955	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.65319	-0.6197	10	0.48119	T	0.1	.	4.0953	0.09988	0.6338:0.0:0.2226:0.1436	.	2258	Q8IVF4	DYH10_HUMAN	L	2258	ENSP00000386770:R2258L	ENSP00000386770:R2258L	R	+	2	0	DNAH10	122916533	0.005000	0.15991	0.079000	0.20413	0.094000	0.18550	1.486000	0.35530	1.057000	0.40506	-0.302000	0.09304	CGA	DNAH10	-	NULL	ENSG00000197653		0.328	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0.00	68	0	G			124350580	+1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.017	T
DNAH10	196385	genome.wustl.edu	37	12	124350580	124350580	+	Missense_Mutation	SNP	G	G	T	rs375260050		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:124350580G>T	ENST00000409039.3	+	40	6798	c.6773G>T	c.(6772-6774)cGa>cTa	p.R2258L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2258	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGAAATATCGACCATACTGG	0.328																																																	0													123.0	108.0	112.0					12																	124350580		1821	4084	5905	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6773G>T	12.37:g.124350580G>T	ENSP00000386770:p.Arg2258Leu		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.R2258L	ENST00000409039.3	37	c.6773	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	5.146	0.212618	0.09757	.	.	ENSG00000197653	ENST00000409039	D	0.87179	-2.22	5.87	3.57	0.40892	.	1.454590	0.04555	U	0.390679	T	0.80363	0.4609	L	0.31752	0.955	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.65319	-0.6197	10	0.48119	T	0.1	.	4.0953	0.09988	0.6338:0.0:0.2226:0.1436	.	2258	Q8IVF4	DYH10_HUMAN	L	2258	ENSP00000386770:R2258L	ENSP00000386770:R2258L	R	+	2	0	DNAH10	122916533	0.005000	0.15991	0.079000	0.20413	0.094000	0.18550	1.486000	0.35530	1.057000	0.40506	-0.302000	0.09304	CGA	DNAH10	-	NULL	ENSG00000197653		0.328	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0.00	89	0	G			124350580	+1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.017	T
DNAH10OS	642797	genome.wustl.edu	37	12	124418874	124418874	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:124418874A>C	ENST00000514254.2	-	1	657	c.257T>G	c.(256-258)cTt>cGt	p.L86R	CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000409039.3_Intron|RP11-380L11.3_ENST00000602292.1_RNA			P0CZ25	D10OS_HUMAN	dynein, axonemal, heavy chain 10 opposite strand	86	Pro-rich.																GGGTGGTCTAAGTCCGTGGGC	0.642																																																	0																																										SO:0001583	missense	0			AK127211		12q24.31	2013-01-23	2010-02-09		ENSG00000250091	ENSG00000250091			37121	protein-coding gene	gene with protein product			"""dynein, axonemal, heavy chain 10 opposite strand"", ""dynein, axonemal, heavy chain 10 opposite strand (non-protein coding)"""			19726446	Standard			Approved	FLJ45278		P0CZ25	OTTHUMG00000162010	ENST00000514254.2:c.257T>G	12.37:g.124418874A>C	ENSP00000422769:p.Leu86Arg			Missense_Mutation	SNP	NULL	p.L86R	ENST00000514254.2	37	c.257		12	.	.	.	.	.	.	.	.	.	.	A	2.451	-0.326474	0.05350	.	.	ENSG00000250091	ENST00000514254	.	.	.	2.39	-4.78	0.03209	.	.	.	.	.	T	0.31104	0.0786	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34030	-0.9845	5	0.87932	D	0	.	1.8493	0.03166	0.179:0.2912:0.3696:0.1602	.	.	.	.	R	86	.	ENSP00000422769:L86R	L	-	2	0	DNAH10OS	122984827	0.004000	0.15560	0.000000	0.03702	0.011000	0.07611	-0.026000	0.12392	-1.993000	0.00974	-0.488000	0.04728	CTT	DNAH10OS	-	NULL	ENSG00000250091		0.642	DNAH10OS-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	DNAH10OS	HGNC	protein_coding	OTTHUMT00000366728.3	-	0.00	47	0	A			124418874	-1	tier1	-	no_errors	ENST00000514254	ensembl	human	novel	74_37	missense	20.83	19	5	SNP	0.000	C
DNAH10OS	642797	genome.wustl.edu	37	12	124418874	124418874	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:124418874A>C	ENST00000514254.2	-	1	657	c.257T>G	c.(256-258)cTt>cGt	p.L86R	CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000409039.3_Intron|RP11-380L11.3_ENST00000602292.1_RNA			P0CZ25	D10OS_HUMAN	dynein, axonemal, heavy chain 10 opposite strand	86	Pro-rich.																GGGTGGTCTAAGTCCGTGGGC	0.642																																																	0																																										SO:0001583	missense	0			AK127211		12q24.31	2013-01-23	2010-02-09		ENSG00000250091	ENSG00000250091			37121	protein-coding gene	gene with protein product			"""dynein, axonemal, heavy chain 10 opposite strand"", ""dynein, axonemal, heavy chain 10 opposite strand (non-protein coding)"""			19726446	Standard			Approved	FLJ45278		P0CZ25	OTTHUMG00000162010	ENST00000514254.2:c.257T>G	12.37:g.124418874A>C	ENSP00000422769:p.Leu86Arg			Missense_Mutation	SNP	NULL	p.L86R	ENST00000514254.2	37	c.257		12	.	.	.	.	.	.	.	.	.	.	A	2.451	-0.326474	0.05350	.	.	ENSG00000250091	ENST00000514254	.	.	.	2.39	-4.78	0.03209	.	.	.	.	.	T	0.31104	0.0786	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34030	-0.9845	5	0.87932	D	0	.	1.8493	0.03166	0.179:0.2912:0.3696:0.1602	.	.	.	.	R	86	.	ENSP00000422769:L86R	L	-	2	0	DNAH10OS	122984827	0.004000	0.15560	0.000000	0.03702	0.011000	0.07611	-0.026000	0.12392	-1.993000	0.00974	-0.488000	0.04728	CTT	DNAH10OS	-	NULL	ENSG00000250091		0.642	DNAH10OS-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	DNAH10OS	HGNC	protein_coding	OTTHUMT00000366728.3	-	0.00	54	0	A			124418874	-1	tier1	-	no_errors	ENST00000514254	ensembl	human	novel	74_37	missense	20.83	19	5	SNP	0.000	C
DNAH14	127602	genome.wustl.edu	37	1	225569205	225569206	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:225569205_225569206delGA	ENST00000445597.2	+	56	9671_9672	c.9671_9672delGA	c.(9670-9672)ggafs	p.G3224fs	DNAH14_ENST00000439375.2_Frame_Shift_Del_p.G4232fs|DNAH14_ENST00000430092.1_Frame_Shift_Del_p.G4232fs			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	3224					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GCTATAAAAGGAGAGATCATCC	0.312																																																	0																																										SO:0001589	frameshift_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.9671_9672delGA	1.37:g.225569209_225569210delGA	ENSP00000409472:p.Gly3224fs		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.E4233fs	ENST00000445597.2	37	c.12695_12696		1																																																																																			DNAH14	-	pfam_Dynein_heavy_dom	ENSG00000185842		0.312	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3		0.00	102	0	GA	XM_059166		225569206	+1	tier1		no_errors	ENST00000430092	ensembl	human	known	74_37	frame_shift_del	12.12	87	12	DEL	0.995:0.460	-
DNAH14	127602	genome.wustl.edu	37	1	225569205	225569206	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:225569205_225569206delGA	ENST00000445597.2	+	56	9671_9672	c.9671_9672delGA	c.(9670-9672)ggafs	p.G3224fs	DNAH14_ENST00000439375.2_Frame_Shift_Del_p.G4232fs|DNAH14_ENST00000430092.1_Frame_Shift_Del_p.G4232fs			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	3224					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GCTATAAAAGGAGAGATCATCC	0.312																																																	0																																										SO:0001589	frameshift_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.9671_9672delGA	1.37:g.225569209_225569210delGA	ENSP00000409472:p.Gly3224fs		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.E4233fs	ENST00000445597.2	37	c.12695_12696		1																																																																																			DNAH14	-	pfam_Dynein_heavy_dom	ENSG00000185842		0.312	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3		0.00	60	0	GA	XM_059166		225569206	+1	tier1		no_errors	ENST00000430092	ensembl	human	known	74_37	frame_shift_del	12.12	87	12	DEL	0.995:0.460	-
DNAH5	1767	genome.wustl.edu	37	5	13769199	13769199	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:13769199T>G	ENST00000265104.4	-	58	9871	c.9767A>C	c.(9766-9768)aAg>aCg	p.K3256T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3256	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACCTCAGCCTTGACCTTTTC	0.428									Kartagener syndrome																																								0													299.0	294.0	296.0					5																	13769199		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9767A>C	5.37:g.13769199T>G	ENSP00000265104:p.Lys3256Thr		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K3256T	ENST00000265104.4	37	c.9767	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198247	0.79015	.	.	ENSG00000039139	ENST00000265104	T	0.80304	-1.36	5.76	4.59	0.56863	Dynein heavy chain, coiled coil stalk (1);	0.044953	0.85682	D	0.000000	D	0.90324	0.6973	M	0.89478	3.035	0.58432	D	0.999998	P	0.36944	0.574	P	0.58013	0.831	D	0.90771	0.4672	10	0.87932	D	0	.	12.1817	0.54216	0.0:0.0668:0.0:0.9332	.	3256	Q8TE73	DYH5_HUMAN	T	3256	ENSP00000265104:K3256T	ENSP00000265104:K3256T	K	-	2	0	DNAH5	13822199	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.133000	0.71682	1.116000	0.41820	-0.261000	0.10672	AAG	DNAH5	-	NULL	ENSG00000039139		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	39	0	T	NM_001369		13769199	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G
DNAH5	1767	genome.wustl.edu	37	5	13769199	13769199	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:13769199T>G	ENST00000265104.4	-	58	9871	c.9767A>C	c.(9766-9768)aAg>aCg	p.K3256T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3256	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACCTCAGCCTTGACCTTTTC	0.428									Kartagener syndrome																																								0													299.0	294.0	296.0					5																	13769199		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9767A>C	5.37:g.13769199T>G	ENSP00000265104:p.Lys3256Thr		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K3256T	ENST00000265104.4	37	c.9767	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198247	0.79015	.	.	ENSG00000039139	ENST00000265104	T	0.80304	-1.36	5.76	4.59	0.56863	Dynein heavy chain, coiled coil stalk (1);	0.044953	0.85682	D	0.000000	D	0.90324	0.6973	M	0.89478	3.035	0.58432	D	0.999998	P	0.36944	0.574	P	0.58013	0.831	D	0.90771	0.4672	10	0.87932	D	0	.	12.1817	0.54216	0.0:0.0668:0.0:0.9332	.	3256	Q8TE73	DYH5_HUMAN	T	3256	ENSP00000265104:K3256T	ENSP00000265104:K3256T	K	-	2	0	DNAH5	13822199	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.133000	0.71682	1.116000	0.41820	-0.261000	0.10672	AAG	DNAH5	-	NULL	ENSG00000039139		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	61	0	T	NM_001369		13769199	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G
DNAH7	56171	genome.wustl.edu	37	2	196801481	196801481	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:196801481T>A	ENST00000312428.6	-	20	3214	c.3114A>T	c.(3112-3114)agA>agT	p.R1038S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1038	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCCAGCATTCTGTCAATGG	0.289																																																	0													56.0	52.0	54.0					2																	196801481		1795	4057	5852	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3114A>T	2.37:g.196801481T>A	ENSP00000311273:p.Arg1038Ser		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R1038S	ENST00000312428.6	37	c.3114	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	8.608	0.888366	0.17540	.	.	ENSG00000118997	ENST00000312428	T	0.60797	0.16	5.78	-1.24	0.09435	Dynein heavy chain, domain-2 (1);	0.218097	0.45606	D	0.000352	T	0.40619	0.1124	N	0.25426	0.745	0.32270	N	0.568967	B	0.19445	0.036	B	0.24006	0.05	T	0.39187	-0.9626	10	0.37606	T	0.19	.	11.7769	0.51991	0.0:0.5409:0.0:0.4591	.	1038	Q8WXX0	DYH7_HUMAN	S	1038	ENSP00000311273:R1038S	ENSP00000311273:R1038S	R	-	3	2	DNAH7	196509726	0.000000	0.05858	0.144000	0.22314	0.507000	0.33981	-0.137000	0.10389	-0.122000	0.11766	-0.326000	0.08463	AGA	DNAH7	-	pfam_Dynein_heavy_dom-2	ENSG00000118997		0.289	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0.00	44	0	T	NM_018897		196801481	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	14.52	53	9	SNP	0.023	A
DNAH7	56171	genome.wustl.edu	37	2	196801481	196801481	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:196801481T>A	ENST00000312428.6	-	20	3214	c.3114A>T	c.(3112-3114)agA>agT	p.R1038S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1038	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCCAGCATTCTGTCAATGG	0.289																																																	0													56.0	52.0	54.0					2																	196801481		1795	4057	5852	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3114A>T	2.37:g.196801481T>A	ENSP00000311273:p.Arg1038Ser		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R1038S	ENST00000312428.6	37	c.3114	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	8.608	0.888366	0.17540	.	.	ENSG00000118997	ENST00000312428	T	0.60797	0.16	5.78	-1.24	0.09435	Dynein heavy chain, domain-2 (1);	0.218097	0.45606	D	0.000352	T	0.40619	0.1124	N	0.25426	0.745	0.32270	N	0.568967	B	0.19445	0.036	B	0.24006	0.05	T	0.39187	-0.9626	10	0.37606	T	0.19	.	11.7769	0.51991	0.0:0.5409:0.0:0.4591	.	1038	Q8WXX0	DYH7_HUMAN	S	1038	ENSP00000311273:R1038S	ENSP00000311273:R1038S	R	-	3	2	DNAH7	196509726	0.000000	0.05858	0.144000	0.22314	0.507000	0.33981	-0.137000	0.10389	-0.122000	0.11766	-0.326000	0.08463	AGA	DNAH7	-	pfam_Dynein_heavy_dom-2	ENSG00000118997		0.289	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0.00	59	0	T	NM_018897		196801481	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	14.52	53	9	SNP	0.023	A
DNAH9	1770	genome.wustl.edu	37	17	11511558	11511558	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:11511558T>A	ENST00000262442.4	+	2	598	c.530T>A	c.(529-531)cTt>cAt	p.L177H	DNAH9_ENST00000454412.2_Missense_Mutation_p.L177H|DNAH9_ENST00000579828.1_Missense_Mutation_p.L177H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	177	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCAGTTATACTTGAGCAAGTG	0.507																																																	0													137.0	136.0	136.0					17																	11511558		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.530T>A	17.37:g.11511558T>A	ENSP00000262442:p.Leu177His		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L177H	ENST00000262442.4	37	c.530	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166982	0.38217	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.26373	1.78;1.74	5.85	5.85	0.93711	.	0.547984	0.18159	N	0.149841	T	0.34513	0.0900	M	0.63428	1.95	0.80722	D	1	B;P	0.40553	0.438;0.721	B;B	0.42738	0.212;0.396	T	0.06356	-1.0831	10	0.45353	T	0.12	.	15.899	0.79359	0.0:0.0:0.0:1.0	.	177;177	Q9NYC9;E7EP17	DYH9_HUMAN;.	H	177	ENSP00000262442:L177H;ENSP00000414874:L177H	ENSP00000262442:L177H	L	+	2	0	DNAH9	11452283	0.989000	0.36119	0.301000	0.25044	0.188000	0.23474	4.628000	0.61282	2.222000	0.72286	0.533000	0.62120	CTT	DNAH9	-	NULL	ENSG00000007174		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0.00	53	0	T	NM_001372		11511558	+1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	20.00	40	10	SNP	0.763	A
DNAH9	1770	genome.wustl.edu	37	17	11511558	11511558	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:11511558T>A	ENST00000262442.4	+	2	598	c.530T>A	c.(529-531)cTt>cAt	p.L177H	DNAH9_ENST00000454412.2_Missense_Mutation_p.L177H|DNAH9_ENST00000579828.1_Missense_Mutation_p.L177H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	177	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCAGTTATACTTGAGCAAGTG	0.507																																																	0													137.0	136.0	136.0					17																	11511558		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.530T>A	17.37:g.11511558T>A	ENSP00000262442:p.Leu177His		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L177H	ENST00000262442.4	37	c.530	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166982	0.38217	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.26373	1.78;1.74	5.85	5.85	0.93711	.	0.547984	0.18159	N	0.149841	T	0.34513	0.0900	M	0.63428	1.95	0.80722	D	1	B;P	0.40553	0.438;0.721	B;B	0.42738	0.212;0.396	T	0.06356	-1.0831	10	0.45353	T	0.12	.	15.899	0.79359	0.0:0.0:0.0:1.0	.	177;177	Q9NYC9;E7EP17	DYH9_HUMAN;.	H	177	ENSP00000262442:L177H;ENSP00000414874:L177H	ENSP00000262442:L177H	L	+	2	0	DNAH9	11452283	0.989000	0.36119	0.301000	0.25044	0.188000	0.23474	4.628000	0.61282	2.222000	0.72286	0.533000	0.62120	CTT	DNAH9	-	NULL	ENSG00000007174		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0.00	69	0	T	NM_001372		11511558	+1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	20.00	40	10	SNP	0.763	A
DNAJC8	22826	genome.wustl.edu	37	1	28535044	28535045	+	Intron	INS	-	-	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:28535044_28535045insA	ENST00000263697.4	-	6	426				DNAJC8_ENST00000489277.1_Intron	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTTTTCATTAAAAAAAAAAA	0.361																																																	0																																										SO:0001627	intron_variant	0			AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.400-120->T	1.37:g.28535055_28535055dupA			B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	RNA	INS	-	NULL	ENST00000263697.4	37	NULL	CCDS41292.1	1																																																																																			DNAJC8	-	-	ENSG00000126698		0.361	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC8	HGNC	protein_coding	OTTHUMT00000009860.1		0.00	15	0	-	NM_014280		28535045	-1	tier1		no_errors	ENST00000470967	ensembl	human	known	74_37	rna	21.05	15	4	INS	0.000:0.000	A
DNER	92737	genome.wustl.edu	37	2	230456533	230456535	+	In_Frame_Del	DEL	GCT	GCT	-	rs376000556	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:230456533_230456535delGCT	ENST00000341772.4	-	2	480_482	c.346_348delAGC	c.(346-348)agcdel	p.S116del		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	116	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Interaction with NOTCH1. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTAGCCATCgctgctgctgctg	0.532																																																	0																																										SO:0001651	inframe_deletion	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.346_348delAGC	2.37:g.230456542_230456544delGCT	ENSP00000345229:p.Ser116del		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	In_Frame_Del	DEL	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S116in_frame_del	ENST00000341772.4	37	c.348_346	CCDS33390.1	2																																																																																			DNER	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000187957		0.532	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1		0.00	47	0	GCT	NM_139072		230456535	-1	tier1		no_errors	ENST00000341772	ensembl	human	known	74_37	in_frame_del	10.26	35	4	DEL	0.003:0.004:0.006	-
DOCK3	1795	genome.wustl.edu	37	3	51112836	51112836	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:51112836T>A	ENST00000266037.9	+	7	537	c.514T>A	c.(514-516)Tcg>Acg	p.S172T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	172					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTAGTGGACTCGGACCAGAT	0.408																																																	0													94.0	93.0	93.0					3																	51112836		1903	4119	6022	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.514T>A	3.37:g.51112836T>A	ENSP00000266037:p.Ser172Thr		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.S172T	ENST00000266037.9	37	c.514	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287927	0.59976	.	.	ENSG00000088538	ENST00000266037	T	0.56103	0.48	5.77	4.6	0.57074	.	0.301731	0.37906	N	0.001890	T	0.31513	0.0799	N	0.10916	0.065	0.40827	D	0.983552	B	0.32051	0.354	B	0.26614	0.071	T	0.17319	-1.0373	10	0.42905	T	0.14	.	11.9154	0.52763	0.0:0.0:0.1454:0.8546	.	172	Q8IZD9	DOCK3_HUMAN	T	172	ENSP00000266037:S172T	ENSP00000266037:S172T	S	+	1	0	DOCK3	51087876	1.000000	0.71417	0.963000	0.40424	0.988000	0.76386	2.608000	0.46308	1.107000	0.41642	0.477000	0.44152	TCG	DOCK3	-	NULL	ENSG00000088538		0.408	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0.00	105	0	T	NM_004947		51112836	+1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	31.76	57	27	SNP	1.000	A
DOCK3	1795	genome.wustl.edu	37	3	51112836	51112836	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:51112836T>A	ENST00000266037.9	+	7	537	c.514T>A	c.(514-516)Tcg>Acg	p.S172T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	172					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTAGTGGACTCGGACCAGAT	0.408																																																	0													94.0	93.0	93.0					3																	51112836		1903	4119	6022	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.514T>A	3.37:g.51112836T>A	ENSP00000266037:p.Ser172Thr		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.S172T	ENST00000266037.9	37	c.514	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287927	0.59976	.	.	ENSG00000088538	ENST00000266037	T	0.56103	0.48	5.77	4.6	0.57074	.	0.301731	0.37906	N	0.001890	T	0.31513	0.0799	N	0.10916	0.065	0.40827	D	0.983552	B	0.32051	0.354	B	0.26614	0.071	T	0.17319	-1.0373	10	0.42905	T	0.14	.	11.9154	0.52763	0.0:0.0:0.1454:0.8546	.	172	Q8IZD9	DOCK3_HUMAN	T	172	ENSP00000266037:S172T	ENSP00000266037:S172T	S	+	1	0	DOCK3	51087876	1.000000	0.71417	0.963000	0.40424	0.988000	0.76386	2.608000	0.46308	1.107000	0.41642	0.477000	0.44152	TCG	DOCK3	-	NULL	ENSG00000088538		0.408	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0.00	119	0	T	NM_004947		51112836	+1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	31.76	57	27	SNP	1.000	A
DOK3	79930	genome.wustl.edu	37	5	176936846	176936846	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:176936846C>G	ENST00000357198.4	-	1	12	c.8G>C	c.(7-9)cGg>cCg	p.R3P	DOK3_ENST00000501403.2_Intron|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	3					Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCTGGCTCCCCGAGTCATGAG	0.701																																																	0													43.0	43.0	43.0					5																	176936846		2202	4300	6502	SO:0001583	missense	0			AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.8G>C	5.37:g.176936846C>G	ENSP00000349727:p.Arg3Pro		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.R3P	ENST00000357198.4	37	c.8	CCDS4426.1	5	.	.	.	.	.	.	.	.	.	.	T	6.229	0.410341	0.11812	.	.	ENSG00000146094	ENST00000357198	T	0.21191	2.02	2.37	2.37	0.29283	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.23050	N	0.998376	B	0.06786	0.001	B	0.01281	0.0	T	0.27806	-1.0063	9	0.52906	T	0.07	-18.3363	4.3443	0.11126	0.0:0.17:0.0:0.83	.	3	Q7L591	DOK3_HUMAN	P	3	ENSP00000349727:R3P	ENSP00000349727:R3P	R	-	2	0	DOK3	176869452	0.001000	0.12720	0.210000	0.23637	0.015000	0.08874	0.262000	0.18460	0.326000	0.23384	-0.665000	0.03846	CGG	DOK3	-	NULL	ENSG00000146094		0.701	DOK3-001	KNOWN	basic|CCDS	protein_coding	DOK3	HGNC	protein_coding	OTTHUMT00000253420.4	-	0.00	12	0	C	NM_024872		176936846	-1	tier1	-	no_errors	ENST00000357198	ensembl	human	known	74_37	missense	55.56	4	5	SNP	0.296	G
DOLK	22845	genome.wustl.edu	37	9	131709253	131709253	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:131709253A>G	ENST00000372586.3	-	1	645	c.330T>C	c.(328-330)ttT>ttC	p.F110F	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	110					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCACAATGCCAAAACGCTCAA	0.567																																																	0													49.0	50.0	50.0					9																	131709253		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.330T>C	9.37:g.131709253A>G			Q5SRE6	Silent	SNP	NULL	p.F110	ENST00000372586.3	37	c.330	CCDS6915.1	9																																																																																			DOLK	-	NULL	ENSG00000175283		0.567	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOLK	HGNC	protein_coding	OTTHUMT00000054515.1	-	0.00	83	0	A	NM_014908		131709253	-1	tier1	-	no_errors	ENST00000372586	ensembl	human	known	74_37	silent	15.62	54	10	SNP	0.998	G
DOLK	22845	genome.wustl.edu	37	9	131709253	131709253	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:131709253A>G	ENST00000372586.3	-	1	645	c.330T>C	c.(328-330)ttT>ttC	p.F110F	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	110					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCACAATGCCAAAACGCTCAA	0.567																																																	0													49.0	50.0	50.0					9																	131709253		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.330T>C	9.37:g.131709253A>G			Q5SRE6	Silent	SNP	NULL	p.F110	ENST00000372586.3	37	c.330	CCDS6915.1	9																																																																																			DOLK	-	NULL	ENSG00000175283		0.567	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOLK	HGNC	protein_coding	OTTHUMT00000054515.1	-	0.00	98	0	A	NM_014908		131709253	-1	tier1	-	no_errors	ENST00000372586	ensembl	human	known	74_37	silent	15.62	54	10	SNP	0.998	G
DOLK	22845	genome.wustl.edu	37	9	131709261	131709261	+	Missense_Mutation	SNP	C	C	G	rs543246484		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:131709261C>G	ENST00000372586.3	-	1	637	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	108					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCAAAACGCTCAAAGAACGGG	0.572																																																	0													51.0	51.0	51.0					9																	131709261		2203	4300	6503	SO:0001583	missense	0			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.322G>C	9.37:g.131709261C>G	ENSP00000361667:p.Glu108Gln		Q5SRE6	Missense_Mutation	SNP	NULL	p.E108Q	ENST00000372586.3	37	c.322	CCDS6915.1	9	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582778	0.86748	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.84589	-1.87	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000002	D	0.90103	0.6908	L	0.42245	1.32	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.90501	0.4474	10	0.66056	D	0.02	-0.7889	18.7019	0.91623	0.0:1.0:0.0:0.0	.	108	Q9UPQ8	DOLK_HUMAN	Q	108	ENSP00000361667:E108Q	ENSP00000361667:E108Q	E	-	1	0	DOLK	130749082	1.000000	0.71417	0.996000	0.52242	0.877000	0.50540	7.487000	0.81328	2.655000	0.90218	0.462000	0.41574	GAG	DOLK	-	NULL	ENSG00000175283		0.572	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOLK	HGNC	protein_coding	OTTHUMT00000054515.1	-	0.00	108	0	C	NM_014908		131709261	-1	tier1	-	no_errors	ENST00000372586	ensembl	human	known	74_37	missense	13.24	59	9	SNP	1.000	G
DOLK	22845	genome.wustl.edu	37	9	131709261	131709261	+	Missense_Mutation	SNP	C	C	G	rs543246484		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:131709261C>G	ENST00000372586.3	-	1	637	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	108					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCAAAACGCTCAAAGAACGGG	0.572																																																	0													51.0	51.0	51.0					9																	131709261		2203	4300	6503	SO:0001583	missense	0			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.322G>C	9.37:g.131709261C>G	ENSP00000361667:p.Glu108Gln		Q5SRE6	Missense_Mutation	SNP	NULL	p.E108Q	ENST00000372586.3	37	c.322	CCDS6915.1	9	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582778	0.86748	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.84589	-1.87	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000002	D	0.90103	0.6908	L	0.42245	1.32	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.90501	0.4474	10	0.66056	D	0.02	-0.7889	18.7019	0.91623	0.0:1.0:0.0:0.0	.	108	Q9UPQ8	DOLK_HUMAN	Q	108	ENSP00000361667:E108Q	ENSP00000361667:E108Q	E	-	1	0	DOLK	130749082	1.000000	0.71417	0.996000	0.52242	0.877000	0.50540	7.487000	0.81328	2.655000	0.90218	0.462000	0.41574	GAG	DOLK	-	NULL	ENSG00000175283		0.572	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOLK	HGNC	protein_coding	OTTHUMT00000054515.1	-	0.00	87	0	C	NM_014908		131709261	-1	tier1	-	no_errors	ENST00000372586	ensembl	human	known	74_37	missense	13.24	59	9	SNP	1.000	G
DPF3	8110	genome.wustl.edu	37	14	73137841	73137841	+	Intron	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:73137841G>T	ENST00000556509.1	-	8	871				DPF3_ENST00000546183.1_3'UTR|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_3'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGTTCCGTGGGTTTAGCAAC	0.493																																																	0													54.0	54.0	54.0					14																	73137841		1929	4131	6060	SO:0001627	intron_variant	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+3106C>A	14.37:g.73137841G>T			A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	RNA	SNP	-	NULL	ENST00000556509.1	37	NULL		14																																																																																			DPF3	-	-	ENSG00000205683		0.493	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	-	0.00	88	0	G			73137841	-1	tier1	-	no_errors	ENST00000557704	ensembl	human	known	74_37	rna	5.80	65	4	SNP	0.002	T
DPF3	8110	genome.wustl.edu	37	14	73137841	73137841	+	Intron	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:73137841G>T	ENST00000556509.1	-	8	871				DPF3_ENST00000546183.1_3'UTR|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_3'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGTTCCGTGGGTTTAGCAAC	0.493																																																	0													54.0	54.0	54.0					14																	73137841		1929	4131	6060	SO:0001627	intron_variant	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+3106C>A	14.37:g.73137841G>T			A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	RNA	SNP	-	NULL	ENST00000556509.1	37	NULL		14																																																																																			DPF3	-	-	ENSG00000205683		0.493	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	-	0.00	94	0	G			73137841	-1	tier1	-	no_errors	ENST00000557704	ensembl	human	known	74_37	rna	5.80	65	4	SNP	0.002	T
DPP10	57628	genome.wustl.edu	37	2	116510750	116510750	+	Splice_Site	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:116510750A>C	ENST00000410059.1	+	11	1431	c.951A>C	c.(949-951)agA>agC	p.R317S	DPP10_ENST00000310323.8_Splice_Site_p.R310S|DPP10_ENST00000409163.1_Splice_Site_p.R267S|DPP10_ENST00000393147.2_Splice_Site_p.R321S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	317						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCCAAACTAGAGAATACTATA	0.343																																																	0													77.0	70.0	72.0					2																	116510750		2203	4300	6503	SO:0001630	splice_region_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.951-1A>C	2.37:g.116510750A>C			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.R321S	ENST00000410059.1	37	c.963	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273795	0.59649	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.1	3.95	0.45737	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.055041	0.64402	D	0.000001	T	0.35537	0.0935	N	0.21240	0.645	0.54753	D	0.999983	P;D;D;P	0.89917	0.897;1.0;0.968;0.916	B;D;P;P	0.83275	0.412;0.996;0.661;0.547	T	0.08493	-1.0719	9	.	.	.	.	7.5279	0.27666	0.8182:0.0:0.1818:0.0	.	310;321;313;317	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	S	317;267;321;310;267	ENSP00000386565:R317S;ENSP00000387038:R267S;ENSP00000376855:R321S;ENSP00000309066:R310S	.	R	+	3	2	DPP10	116227220	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.868000	0.39509	0.972000	0.38314	0.528000	0.53228	AGA	DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0.00	110	0	A	NM_020868	Missense_Mutation	116510750	+1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	51.65	44	47	SNP	1.000	C
DPP10	57628	genome.wustl.edu	37	2	116510750	116510750	+	Splice_Site	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:116510750A>C	ENST00000410059.1	+	11	1431	c.951A>C	c.(949-951)agA>agC	p.R317S	DPP10_ENST00000310323.8_Splice_Site_p.R310S|DPP10_ENST00000409163.1_Splice_Site_p.R267S|DPP10_ENST00000393147.2_Splice_Site_p.R321S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	317						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCCAAACTAGAGAATACTATA	0.343																																																	0													77.0	70.0	72.0					2																	116510750		2203	4300	6503	SO:0001630	splice_region_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.951-1A>C	2.37:g.116510750A>C			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.R321S	ENST00000410059.1	37	c.963	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273795	0.59649	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.1	3.95	0.45737	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.055041	0.64402	D	0.000001	T	0.35537	0.0935	N	0.21240	0.645	0.54753	D	0.999983	P;D;D;P	0.89917	0.897;1.0;0.968;0.916	B;D;P;P	0.83275	0.412;0.996;0.661;0.547	T	0.08493	-1.0719	9	.	.	.	.	7.5279	0.27666	0.8182:0.0:0.1818:0.0	.	310;321;313;317	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	S	317;267;321;310;267	ENSP00000386565:R317S;ENSP00000387038:R267S;ENSP00000376855:R321S;ENSP00000309066:R310S	.	R	+	3	2	DPP10	116227220	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.868000	0.39509	0.972000	0.38314	0.528000	0.53228	AGA	DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0.00	84	0	A	NM_020868	Missense_Mutation	116510750	+1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	51.65	44	47	SNP	1.000	C
DPP10	57628	genome.wustl.edu	37	2	116593762	116593762	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:116593762C>G	ENST00000410059.1	+	22	2460	c.1980C>G	c.(1978-1980)atC>atG	p.I660M	DPP10_ENST00000310323.8_Missense_Mutation_p.I653M|DPP10_ENST00000409163.1_Missense_Mutation_p.I610M|DPP10_ENST00000393147.2_Missense_Mutation_p.I664M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	660						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATCAATGATCTTAAAATCAG	0.353																																																	0													83.0	80.0	81.0					2																	116593762		2203	4300	6503	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1980C>G	2.37:g.116593762C>G	ENSP00000386565:p.Ile660Met		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.I664M	ENST00000410059.1	37	c.1992	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268721	0.23136	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.67	3.85	0.44370	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.050418	0.85682	D	0.000000	T	0.21801	0.0525	L	0.31120	0.905	0.39483	D	0.967923	B;B;B;B	0.30793	0.13;0.208;0.295;0.157	B;B;B;B	0.32762	0.094;0.118;0.152;0.152	T	0.06607	-1.0817	10	0.38643	T	0.18	-25.866	8.3388	0.32230	0.3943:0.5355:0.0:0.0702	.	653;664;656;660	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	660;610;664;653	ENSP00000386565:I660M;ENSP00000387038:I610M;ENSP00000376855:I664M;ENSP00000309066:I653M	ENSP00000309066:I653M	I	+	3	3	DPP10	116310232	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.332000	0.19751	0.712000	0.32039	0.655000	0.94253	ATC	DPP10	-	pfam_Peptidase_S9	ENSG00000175497		0.353	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4		0.00	68	0	C	NM_020868		116593762	+1			no_errors	ENST00000393147	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	G
DPY19L1	23333	genome.wustl.edu	37	7	34994389	34994389	+	Splice_Site	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:34994389A>C	ENST00000310974.4	-	13	1166	c.1022T>G	c.(1021-1023)gTt>gGt	p.V341G	DPY19L1_ENST00000462134.2_5'Flank	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	341						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCCTTGAATAACCTAAACAAA	0.274																																																	0													23.0	19.0	21.0					7																	34994389		1791	4033	5824	SO:0001630	splice_region_variant	0			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1021-1T>G	7.37:g.34994389A>C			O94954|Q4G151	Missense_Mutation	SNP	pfam_Dpy-19	p.V341G	ENST00000310974.4	37	c.1022	CCDS43567.1	7	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044463	0.36085	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.58940	0.3;0.3	5.17	5.17	0.71159	.	0.344108	0.29660	N	0.011535	T	0.60405	0.2266	L	0.50333	1.59	0.80722	D	1	B	0.34147	0.438	P	0.45856	0.495	T	0.60561	-0.7239	10	0.41790	T	0.15	-13.8746	11.3288	0.49465	1.0:0.0:0.0:0.0	.	341	Q2PZI1	D19L1_HUMAN	G	341;111	ENSP00000308695:V341G;ENSP00000400510:V111G	ENSP00000308695:V341G	V	-	2	0	DPY19L1	34960914	1.000000	0.71417	0.999000	0.59377	0.523000	0.34469	3.277000	0.51654	2.170000	0.68504	0.482000	0.46254	GTT	DPY19L1	-	pfam_Dpy-19	ENSG00000173852		0.274	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	HGNC	protein_coding	OTTHUMT00000337506.1	-	0.00	102	0	A		Missense_Mutation	34994389	-1	tier1	-	no_errors	ENST00000310974	ensembl	human	known	74_37	missense	8.20	112	10	SNP	1.000	C
DPY19L1	23333	genome.wustl.edu	37	7	34994389	34994389	+	Splice_Site	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:34994389A>C	ENST00000310974.4	-	13	1166	c.1022T>G	c.(1021-1023)gTt>gGt	p.V341G	DPY19L1_ENST00000462134.2_5'Flank	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	341						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCCTTGAATAACCTAAACAAA	0.274																																																	0													23.0	19.0	21.0					7																	34994389		1791	4033	5824	SO:0001630	splice_region_variant	0			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1021-1T>G	7.37:g.34994389A>C			O94954|Q4G151	Missense_Mutation	SNP	pfam_Dpy-19	p.V341G	ENST00000310974.4	37	c.1022	CCDS43567.1	7	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044463	0.36085	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.58940	0.3;0.3	5.17	5.17	0.71159	.	0.344108	0.29660	N	0.011535	T	0.60405	0.2266	L	0.50333	1.59	0.80722	D	1	B	0.34147	0.438	P	0.45856	0.495	T	0.60561	-0.7239	10	0.41790	T	0.15	-13.8746	11.3288	0.49465	1.0:0.0:0.0:0.0	.	341	Q2PZI1	D19L1_HUMAN	G	341;111	ENSP00000308695:V341G;ENSP00000400510:V111G	ENSP00000308695:V341G	V	-	2	0	DPY19L1	34960914	1.000000	0.71417	0.999000	0.59377	0.523000	0.34469	3.277000	0.51654	2.170000	0.68504	0.482000	0.46254	GTT	DPY19L1	-	pfam_Dpy-19	ENSG00000173852		0.274	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	HGNC	protein_coding	OTTHUMT00000337506.1	-	0.00	66	0	A		Missense_Mutation	34994389	-1	tier1	-	no_errors	ENST00000310974	ensembl	human	known	74_37	missense	8.20	112	10	SNP	1.000	C
DPY19L2P1	554236	genome.wustl.edu	37	7	35142549	35142549	+	RNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:35142549A>G	ENST00000436258.1	-	0	1811							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATTGTATTTGATCCACTGTAA	0.318																																																	0																																												0			BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35142549A>G			B4E2E3	RNA	SNP	-	NULL	ENST00000436258.1	37	NULL		7																																																																																			DPY19L2P1	-	-	ENSG00000189212		0.318	DPY19L2P1-002	KNOWN	basic	processed_transcript	DPY19L2P1	HGNC	pseudogene	OTTHUMT00000338113.1	-	0.00	103	0	A			35142549	-1	tier1	-	no_errors	ENST00000458672	ensembl	human	known	74_37	rna	5.59	169	10	SNP	0.990	G
DPY19L2P1	554236	genome.wustl.edu	37	7	35142549	35142549	+	RNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:35142549A>G	ENST00000436258.1	-	0	1811							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATTGTATTTGATCCACTGTAA	0.318																																																	0																																												0			BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35142549A>G			B4E2E3	RNA	SNP	-	NULL	ENST00000436258.1	37	NULL		7																																																																																			DPY19L2P1	-	-	ENSG00000189212		0.318	DPY19L2P1-002	KNOWN	basic	processed_transcript	DPY19L2P1	HGNC	pseudogene	OTTHUMT00000338113.1	-	0.00	145	0	A			35142549	-1	tier1	-	no_errors	ENST00000458672	ensembl	human	known	74_37	rna	5.59	169	10	SNP	0.990	G
DST	667	genome.wustl.edu	37	6	56437847	56437847	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:56437847T>C	ENST00000361203.3	-	48	12626	c.12619A>G	c.(12619-12621)Att>Gtt	p.I4207V	DST_ENST00000244364.6_Missense_Mutation_p.I1795V|DST_ENST00000446842.2_Missense_Mutation_p.I3883V|DST_ENST00000312431.6_Missense_Mutation_p.Y4189C|DST_ENST00000370788.2_Missense_Mutation_p.I2121V|DST_ENST00000421834.2_Missense_Mutation_p.I2121V|DST_ENST00000370769.4_Missense_Mutation_p.I4209V|DST_ENST00000370754.5_Missense_Mutation_p.I4387V			Q03001	DYST_HUMAN	dystonin	4207					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGACCTGCAATATCCTGTTCC	0.318																																																	0													85.0	69.0	74.0					6																	56437847		1845	4098	5943	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12619A>G	6.37:g.56437847T>C	ENSP00000354508:p.Ile4207Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.I4387V	ENST00000361203.3	37	c.13159		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.68|17.68	3.449767|3.449767	0.63290|0.63290	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203|ENST00000312431	T;T;T;T;T;T;T|T	0.37235|0.81247	1.21;1.21;1.21;1.21;1.21;1.21;1.21|-1.47	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.50627|.	D|.	0.000108|.	D|D	0.84741|0.84741	0.5539|0.5539	M|M	0.75264|0.75264	2.295|2.295	.|.	.|.	.|.	P;D;P;P;P|.	0.56521|.	0.93;0.976;0.932;0.59;0.678|.	D;P;D;B;P|.	0.65874|.	0.919;0.864;0.939;0.243;0.55|.	D|D	0.87385|0.87385	0.2359|0.2359	9|6	0.23302|0.72032	T|D	0.38|0.01	.|.	15.4555|15.4555	0.75311|0.75311	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2121;4209;4387;4207;1795|.	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8|.	.;.;.;DYST_HUMAN;.|.	V|C	1795;4387;4209;2121;3883;2121;4207|4189	ENSP00000244364:I1795V;ENSP00000359790:I4387V;ENSP00000359805:I4209V;ENSP00000400883:I2121V;ENSP00000393645:I3883V;ENSP00000359824:I2121V;ENSP00000354508:I4207V|ENSP00000307959:Y4189C	ENSP00000244364:I1795V|ENSP00000307959:Y4189C	I|Y	-|-	1|2	0|0	DST|DST	56545806|56545806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.751000|4.751000	0.62169|0.62169	2.105000|2.105000	0.64084|0.64084	0.455000|0.455000	0.32223|0.32223	ATT|TAT	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0.00	34	0	T	NM_001723		56437847	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	C
DST	667	genome.wustl.edu	37	6	56437847	56437847	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:56437847T>C	ENST00000361203.3	-	48	12626	c.12619A>G	c.(12619-12621)Att>Gtt	p.I4207V	DST_ENST00000244364.6_Missense_Mutation_p.I1795V|DST_ENST00000446842.2_Missense_Mutation_p.I3883V|DST_ENST00000312431.6_Missense_Mutation_p.Y4189C|DST_ENST00000370788.2_Missense_Mutation_p.I2121V|DST_ENST00000421834.2_Missense_Mutation_p.I2121V|DST_ENST00000370769.4_Missense_Mutation_p.I4209V|DST_ENST00000370754.5_Missense_Mutation_p.I4387V			Q03001	DYST_HUMAN	dystonin	4207					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGACCTGCAATATCCTGTTCC	0.318																																																	0													85.0	69.0	74.0					6																	56437847		1845	4098	5943	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12619A>G	6.37:g.56437847T>C	ENSP00000354508:p.Ile4207Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.I4387V	ENST00000361203.3	37	c.13159		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.68|17.68	3.449767|3.449767	0.63290|0.63290	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203|ENST00000312431	T;T;T;T;T;T;T|T	0.37235|0.81247	1.21;1.21;1.21;1.21;1.21;1.21;1.21|-1.47	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.50627|.	D|.	0.000108|.	D|D	0.84741|0.84741	0.5539|0.5539	M|M	0.75264|0.75264	2.295|2.295	.|.	.|.	.|.	P;D;P;P;P|.	0.56521|.	0.93;0.976;0.932;0.59;0.678|.	D;P;D;B;P|.	0.65874|.	0.919;0.864;0.939;0.243;0.55|.	D|D	0.87385|0.87385	0.2359|0.2359	9|6	0.23302|0.72032	T|D	0.38|0.01	.|.	15.4555|15.4555	0.75311|0.75311	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2121;4209;4387;4207;1795|.	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8|.	.;.;.;DYST_HUMAN;.|.	V|C	1795;4387;4209;2121;3883;2121;4207|4189	ENSP00000244364:I1795V;ENSP00000359790:I4387V;ENSP00000359805:I4209V;ENSP00000400883:I2121V;ENSP00000393645:I3883V;ENSP00000359824:I2121V;ENSP00000354508:I4207V|ENSP00000307959:Y4189C	ENSP00000244364:I1795V|ENSP00000307959:Y4189C	I|Y	-|-	1|2	0|0	DST|DST	56545806|56545806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.751000|4.751000	0.62169|0.62169	2.105000|2.105000	0.64084|0.64084	0.455000|0.455000	0.32223|0.32223	ATT|TAT	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0.00	39	0	T	NM_001723		56437847	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	C
DST	667	genome.wustl.edu	37	6	56507454	56507454	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:56507454T>C	ENST00000244364.6	-	1	340	c.133A>G	c.(133-135)Att>Gtt	p.I45V	DST_ENST00000446842.2_Missense_Mutation_p.I45V|DST_ENST00000312431.6_Intron|DST_ENST00000370765.6_Missense_Mutation_p.I45V|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000518935.1_Missense_Mutation_p.I45V|DST_ENST00000370754.5_Intron	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCGAAGCTAATGCAAGAGTTG	0.408																																																	0													124.0	109.0	114.0					6																	56507454		2203	4300	6503	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.133A>G	6.37:g.56507454T>C	ENSP00000244364:p.Ile45Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_EF_hand_dom	p.I45V	ENST00000244364.6	37	c.133	CCDS47443.1	6	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207726	0.39003	.	.	ENSG00000151914	ENST00000244364;ENST00000446842;ENST00000439203;ENST00000370765;ENST00000518935	T;T;T;T;T	0.72725	1.21;1.04;-0.2;-0.68;-0.13	5.86	5.86	0.93980	.	.	.	.	.	T	0.63616	0.2526	N	0.22421	0.69	0.18873	N	0.999981	B;P;D;B	0.64830	0.218;0.863;0.994;0.325	B;P;P;B	0.61201	0.05;0.53;0.885;0.145	T	0.72743	-0.4201	8	0.87932	D	0	.	11.6181	0.51102	0.1327:0.0:0.0:0.8673	.	45;45;45;45	Q6P0N6;Q03001-3;Q03001-9;Q03001-8	.;.;.;.	V	45	ENSP00000244364:I45V;ENSP00000393645:I45V;ENSP00000404924:I45V;ENSP00000359801:I45V;ENSP00000431003:I45V	ENSP00000244364:I45V	I	-	1	0	DST	56615413	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	3.723000	0.54955	2.367000	0.80283	0.528000	0.53228	ATT	DST	-	NULL	ENSG00000151914		0.408	DST-005	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041022.4	-	0.00	33	0	T	NM_001723		56507454	-1	tier1	-	no_errors	ENST00000446842	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C
DST	667	genome.wustl.edu	37	6	56507454	56507454	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:56507454T>C	ENST00000244364.6	-	1	340	c.133A>G	c.(133-135)Att>Gtt	p.I45V	DST_ENST00000446842.2_Missense_Mutation_p.I45V|DST_ENST00000312431.6_Intron|DST_ENST00000370765.6_Missense_Mutation_p.I45V|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000518935.1_Missense_Mutation_p.I45V|DST_ENST00000370754.5_Intron	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCGAAGCTAATGCAAGAGTTG	0.408																																																	0													124.0	109.0	114.0					6																	56507454		2203	4300	6503	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.133A>G	6.37:g.56507454T>C	ENSP00000244364:p.Ile45Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_EF_hand_dom	p.I45V	ENST00000244364.6	37	c.133	CCDS47443.1	6	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207726	0.39003	.	.	ENSG00000151914	ENST00000244364;ENST00000446842;ENST00000439203;ENST00000370765;ENST00000518935	T;T;T;T;T	0.72725	1.21;1.04;-0.2;-0.68;-0.13	5.86	5.86	0.93980	.	.	.	.	.	T	0.63616	0.2526	N	0.22421	0.69	0.18873	N	0.999981	B;P;D;B	0.64830	0.218;0.863;0.994;0.325	B;P;P;B	0.61201	0.05;0.53;0.885;0.145	T	0.72743	-0.4201	8	0.87932	D	0	.	11.6181	0.51102	0.1327:0.0:0.0:0.8673	.	45;45;45;45	Q6P0N6;Q03001-3;Q03001-9;Q03001-8	.;.;.;.	V	45	ENSP00000244364:I45V;ENSP00000393645:I45V;ENSP00000404924:I45V;ENSP00000359801:I45V;ENSP00000431003:I45V	ENSP00000244364:I45V	I	-	1	0	DST	56615413	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	3.723000	0.54955	2.367000	0.80283	0.528000	0.53228	ATT	DST	-	NULL	ENSG00000151914		0.408	DST-005	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041022.4	-	0.00	61	0	T	NM_001723		56507454	-1	tier1	-	no_errors	ENST00000446842	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C
DSTYK	25778	genome.wustl.edu	37	1	205138757	205138757	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:205138757C>A	ENST00000367162.3	-	3	888	c.858G>T	c.(856-858)tcG>tcT	p.S286S	DSTYK_ENST00000367160.4_Silent_p.S286S|DSTYK_ENST00000367161.3_Silent_p.S286S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	286					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTATTATCTCCGAGCCCAGTT	0.463																																																	0													79.0	75.0	77.0					1																	205138757		2203	4300	6503	SO:0001819	synonymous_variant	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.858G>T	1.37:g.205138757C>A			B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S286	ENST00000367162.3	37	c.858	CCDS1451.1	1																																																																																			DSTYK	-	NULL	ENSG00000133059		0.463	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1	-	0.00	43	0	C	NM_015375		205138757	-1	tier1	-	no_errors	ENST00000367162	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.011	A
DSTYK	25778	genome.wustl.edu	37	1	205138757	205138757	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:205138757C>A	ENST00000367162.3	-	3	888	c.858G>T	c.(856-858)tcG>tcT	p.S286S	DSTYK_ENST00000367160.4_Silent_p.S286S|DSTYK_ENST00000367161.3_Silent_p.S286S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	286					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTATTATCTCCGAGCCCAGTT	0.463																																																	0													79.0	75.0	77.0					1																	205138757		2203	4300	6503	SO:0001819	synonymous_variant	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.858G>T	1.37:g.205138757C>A			B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S286	ENST00000367162.3	37	c.858	CCDS1451.1	1																																																																																			DSTYK	-	NULL	ENSG00000133059		0.463	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1	-	0.00	72	0	C	NM_015375		205138757	-1	tier1	-	no_errors	ENST00000367162	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.011	A
DUOX2	50506	genome.wustl.edu	37	15	45396414	45396414	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:45396414G>T	ENST00000603300.1	-	19	2686	c.2484C>A	c.(2482-2484)ttC>ttA	p.F828L	DUOX2_ENST00000389039.6_Missense_Mutation_p.F828L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	828	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGCCAGAGAGAACATGGACT	0.612																																																	0													44.0	41.0	42.0					15																	45396414		2198	4292	6490	SO:0001583	missense	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2484C>A	15.37:g.45396414G>T	ENSP00000475084:p.Phe828Leu		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.F828L	ENST00000603300.1	37	c.2484	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455920	0.84209	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.23	3.29	0.37713	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77208	-0.2672	9	0.87932	D	0	-19.9745	7.5954	0.28046	0.2716:0.0:0.7284:0.0	.	828;390	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	L	828	.	ENSP00000373691:F828L	F	-	3	2	DUOX2	43183706	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.342000	0.52159	0.636000	0.30508	0.563000	0.77884	TTC	DUOX2	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	ENSG00000140279		0.612	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding			0.00	111	0	G	NM_014080		45396414	-1			no_errors	ENST00000389039	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
DUSP19	142679	genome.wustl.edu	37	2	183960176	183960176	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:183960176T>C	ENST00000354221.4	+	4	619	c.444T>C	c.(442-444)gtT>gtC	p.V148V	AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Silent_p.V97V|AC064871.3_ENST00000413954.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	148	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TGGTTCTTGTTCATTGTAATG	0.333																																																	0													119.0	126.0	123.0					2																	183960176		2203	4300	6503	SO:0001819	synonymous_variant	0			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.444T>C	2.37:g.183960176T>C			B2RA79|Q547H4|Q8WYN4	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP	p.V148	ENST00000354221.4	37	c.444	CCDS2289.1	2																																																																																			DUSP19	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000162999		0.333	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP19	HGNC	protein_coding	OTTHUMT00000255866.1		0.00	55	0	T			183960176	+1			no_errors	ENST00000354221	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.994	C
DYNC2H1	79659	genome.wustl.edu	37	11	103041643	103041643	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:103041643T>C	ENST00000375735.2	+	34	5324	c.5180T>C	c.(5179-5181)aTa>aCa	p.I1727T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I1727T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1727	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGGGACGAATATTTGTTGGT	0.338																																																	0													208.0	183.0	190.0					11																	103041643		1831	4089	5920	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5180T>C	11.37:g.103041643T>C	ENSP00000364887:p.Ile1727Thr		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I1727T	ENST00000375735.2	37	c.5180	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156992	0.78114	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.14144	2.53;2.53	4.92	4.92	0.64577	ATPase, AAA+ type, core (1);	0.765907	0.10889	N	0.622946	T	0.44685	0.1305	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.36114	-0.9761	10	0.87932	D	0	.	14.8623	0.70389	0.0:0.0:0.0:1.0	.	1727;1727	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	T	1727	ENSP00000364887:I1727T;ENSP00000381167:I1727T	ENSP00000364887:I1727T	I	+	2	0	DYNC2H1	102546853	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.993000	0.88291	1.970000	0.57323	0.528000	0.53228	ATA	DYNC2H1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000187240		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	58	0	T	XM_370652		103041643	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	C
DYNC2H1	79659	genome.wustl.edu	37	11	103041643	103041643	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:103041643T>C	ENST00000375735.2	+	34	5324	c.5180T>C	c.(5179-5181)aTa>aCa	p.I1727T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I1727T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1727	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGGGACGAATATTTGTTGGT	0.338																																																	0													208.0	183.0	190.0					11																	103041643		1831	4089	5920	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5180T>C	11.37:g.103041643T>C	ENSP00000364887:p.Ile1727Thr		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I1727T	ENST00000375735.2	37	c.5180	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156992	0.78114	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.14144	2.53;2.53	4.92	4.92	0.64577	ATPase, AAA+ type, core (1);	0.765907	0.10889	N	0.622946	T	0.44685	0.1305	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.36114	-0.9761	10	0.87932	D	0	.	14.8623	0.70389	0.0:0.0:0.0:1.0	.	1727;1727	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	T	1727	ENSP00000364887:I1727T;ENSP00000381167:I1727T	ENSP00000364887:I1727T	I	+	2	0	DYNC2H1	102546853	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.993000	0.88291	1.970000	0.57323	0.528000	0.53228	ATA	DYNC2H1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000187240		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	97	0	T	XM_370652		103041643	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	C
DYNC2H1	79659	genome.wustl.edu	37	11	103044834	103044834	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:103044834A>C	ENST00000375735.2	+	36	5753	c.5609A>C	c.(5608-5610)aAg>aCg	p.K1870T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K1870T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1870	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAGCTTTGAAGACAGTTCTG	0.358																																																	0													88.0	81.0	83.0					11																	103044834		1846	4099	5945	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5609A>C	11.37:g.103044834A>C	ENSP00000364887:p.Lys1870Thr		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1870T	ENST00000375735.2	37	c.5609	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360023	0.82353	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.14266	2.52;2.52	5.87	4.72	0.59763	.	.	.	.	.	T	0.48484	0.1502	H	0.95470	3.675	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.60551	-0.7241	9	0.54805	T	0.06	.	12.3221	0.54991	0.8731:0.0:0.0:0.1268	.	1870;1870	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	T	1870	ENSP00000364887:K1870T;ENSP00000381167:K1870T	ENSP00000364887:K1870T	K	+	2	0	DYNC2H1	102550044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.228000	0.95250	1.008000	0.39264	0.477000	0.44152	AAG	DYNC2H1	-	superfamily_P-loop_NTPase	ENSG00000187240		0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	105	0	A	XM_370652		103044834	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	21.05	75	20	SNP	1.000	C
DYNC2H1	79659	genome.wustl.edu	37	11	103044834	103044834	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:103044834A>C	ENST00000375735.2	+	36	5753	c.5609A>C	c.(5608-5610)aAg>aCg	p.K1870T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K1870T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1870	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAGCTTTGAAGACAGTTCTG	0.358																																																	0													88.0	81.0	83.0					11																	103044834		1846	4099	5945	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5609A>C	11.37:g.103044834A>C	ENSP00000364887:p.Lys1870Thr		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1870T	ENST00000375735.2	37	c.5609	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360023	0.82353	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.14266	2.52;2.52	5.87	4.72	0.59763	.	.	.	.	.	T	0.48484	0.1502	H	0.95470	3.675	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.60551	-0.7241	9	0.54805	T	0.06	.	12.3221	0.54991	0.8731:0.0:0.0:0.1268	.	1870;1870	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	T	1870	ENSP00000364887:K1870T;ENSP00000381167:K1870T	ENSP00000364887:K1870T	K	+	2	0	DYNC2H1	102550044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.228000	0.95250	1.008000	0.39264	0.477000	0.44152	AAG	DYNC2H1	-	superfamily_P-loop_NTPase	ENSG00000187240		0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	88	0	A	XM_370652		103044834	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	21.05	75	20	SNP	1.000	C
DYNC2H1	79659	genome.wustl.edu	37	11	103092848	103092848	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:103092848T>G	ENST00000375735.2	+	58	9341	c.9197T>G	c.(9196-9198)cTt>cGt	p.L3066R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3066R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3066	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTGAAGAACTTCTTTTTAAA	0.274																																																	0													40.0	40.0	40.0					11																	103092848		1792	4046	5838	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9197T>G	11.37:g.103092848T>G	ENSP00000364887:p.Leu3066Arg		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3066R	ENST00000375735.2	37	c.9197	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837915	0.71373	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.42131	0.98;1.56	5.87	5.87	0.94306	Dynein heavy chain, coiled coil stalk (1);	0.148055	0.47455	D	0.000233	T	0.69646	0.3134	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.72567	-0.4254	10	0.39692	T	0.17	.	15.5573	0.76208	0.0:0.0:0.0:1.0	.	3066;3066	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	R	3066	ENSP00000364887:L3066R;ENSP00000381167:L3066R	ENSP00000364887:L3066R	L	+	2	0	DYNC2H1	102598058	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	7.611000	0.82962	2.371000	0.80710	0.533000	0.62120	CTT	DYNC2H1	-	NULL	ENSG00000187240		0.274	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	163	0	T	XM_370652		103092848	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	25.89	83	29	SNP	1.000	G
DYNC2H1	79659	genome.wustl.edu	37	11	103092848	103092848	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:103092848T>G	ENST00000375735.2	+	58	9341	c.9197T>G	c.(9196-9198)cTt>cGt	p.L3066R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3066R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3066	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTGAAGAACTTCTTTTTAAA	0.274																																																	0													40.0	40.0	40.0					11																	103092848		1792	4046	5838	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9197T>G	11.37:g.103092848T>G	ENSP00000364887:p.Leu3066Arg		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3066R	ENST00000375735.2	37	c.9197	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837915	0.71373	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.42131	0.98;1.56	5.87	5.87	0.94306	Dynein heavy chain, coiled coil stalk (1);	0.148055	0.47455	D	0.000233	T	0.69646	0.3134	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.72567	-0.4254	10	0.39692	T	0.17	.	15.5573	0.76208	0.0:0.0:0.0:1.0	.	3066;3066	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	R	3066	ENSP00000364887:L3066R;ENSP00000381167:L3066R	ENSP00000364887:L3066R	L	+	2	0	DYNC2H1	102598058	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	7.611000	0.82962	2.371000	0.80710	0.533000	0.62120	CTT	DYNC2H1	-	NULL	ENSG00000187240		0.274	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	96	0	T	XM_370652		103092848	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	25.89	83	29	SNP	1.000	G
ECE2	9718	genome.wustl.edu	37	3	183976133	183976133	+	Intron	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:183976133C>A	ENST00000402825.3	+	2	480				ECE2_ENST00000324557.4_Missense_Mutation_p.H180N|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTGCCCCCCACTTTCGGAC	0.547																																																	0													139.0	135.0	136.0					3																	183976133		2203	4300	6503	SO:0001627	intron_variant	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.480+589C>A	3.37:g.183976133C>A			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12	p.H180N	ENST00000402825.3	37	c.538	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331664	0.41297	.	.	ENSG00000145194	ENST00000324557	T	0.62232	0.04	5.13	5.13	0.70059	.	.	.	.	.	T	0.77685	0.4167	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.65323	0.934	T	0.78420	-0.2211	8	0.49607	T	0.09	.	17.323	0.87241	0.0:1.0:0.0:0.0	.	180	O60344-4	.	N	180	ENSP00000314295:H180N	ENSP00000314295:H180N	H	+	1	0	ECE2	185458827	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	4.231000	0.58639	2.663000	0.90544	0.655000	0.94253	CAC	ECE2	-	NULL	ENSG00000145194		0.547	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3		0.00	95	0	C	NM_014693		183976133	+1			no_errors	ENST00000324557	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	A
EDNRA	1909	genome.wustl.edu	37	4	148406992	148406992	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:148406992A>G	ENST00000324300.5	+	2	674	c.159A>G	c.(157-159)caA>caG	p.Q53Q	EDNRA_ENST00000358556.4_Silent_p.Q53Q|EDNRA_ENST00000506066.1_Silent_p.Q53Q|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.Q53Q	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	53					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CCACTCATCAACCCACTAATT	0.418																																																	0													146.0	126.0	133.0					4																	148406992		2203	4300	6503	SO:0001819	synonymous_variant	0			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.159A>G	4.37:g.148406992A>G			B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn	p.Q53	ENST00000324300.5	37	c.159	CCDS3769.1	4																																																																																			EDNRA	-	NULL	ENSG00000151617		0.418	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	-	0.00	113	0	A			148406992	+1	tier1	-	no_errors	ENST00000324300	ensembl	human	known	74_37	silent	28.85	37	15	SNP	0.299	G
EDNRA	1909	genome.wustl.edu	37	4	148406992	148406992	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:148406992A>G	ENST00000324300.5	+	2	674	c.159A>G	c.(157-159)caA>caG	p.Q53Q	EDNRA_ENST00000358556.4_Silent_p.Q53Q|EDNRA_ENST00000506066.1_Silent_p.Q53Q|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.Q53Q	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	53					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CCACTCATCAACCCACTAATT	0.418																																																	0													146.0	126.0	133.0					4																	148406992		2203	4300	6503	SO:0001819	synonymous_variant	0			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.159A>G	4.37:g.148406992A>G			B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn	p.Q53	ENST00000324300.5	37	c.159	CCDS3769.1	4																																																																																			EDNRA	-	NULL	ENSG00000151617		0.418	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	-	0.00	68	0	A			148406992	+1	tier1	-	no_errors	ENST00000324300	ensembl	human	known	74_37	silent	28.85	37	15	SNP	0.299	G
EDNRA	1909	genome.wustl.edu	37	4	148464965	148464965	+	3'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:148464965G>T	ENST00000324300.5	+	0	2994				EDNRA_ENST00000358556.4_3'UTR|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A						activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	ACCCACAAATGCCACCAGAAC	0.403																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.*1195G>T	4.37:g.148464965G>T			B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	RNA	SNP	-	NULL	ENST00000324300.5	37	NULL	CCDS3769.1	4																																																																																			EDNRA	-	-	ENSG00000151617		0.403	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	-	0.00	53	0	G			148464965	+1	tier1	-	no_errors	ENST00000503721	ensembl	human	known	74_37	rna	23.21	43	13	SNP	0.000	T
EDNRA	1909	genome.wustl.edu	37	4	148464965	148464965	+	3'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:148464965G>T	ENST00000324300.5	+	0	2994				EDNRA_ENST00000358556.4_3'UTR|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A						activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	ACCCACAAATGCCACCAGAAC	0.403																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.*1195G>T	4.37:g.148464965G>T			B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	RNA	SNP	-	NULL	ENST00000324300.5	37	NULL	CCDS3769.1	4																																																																																			EDNRA	-	-	ENSG00000151617		0.403	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	-	0.00	78	0	G			148464965	+1	tier1	-	no_errors	ENST00000503721	ensembl	human	known	74_37	rna	23.21	43	13	SNP	0.000	T
EFR3B	22979	genome.wustl.edu	37	2	25367891	25367891	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:25367891G>C	ENST00000403714.3	+	19	2296	c.2113G>C	c.(2113-2115)Gaa>Caa	p.E705Q	EFR3B_ENST00000402191.1_Missense_Mutation_p.E670Q|EFR3B_ENST00000401432.3_Missense_Mutation_p.E705Q|EFR3B_ENST00000405108.1_Missense_Mutation_p.E557Q	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	705										endometrium(1)	1						GGTGGAGGTAGAATCGAGGAA	0.597																																																	0													104.0	95.0	98.0					2																	25367891		692	1591	2283	SO:0001583	missense	0			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.2113G>C	2.37:g.25367891G>C	ENSP00000384081:p.Glu705Gln		B7WPL8|Q86XU6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E705Q	ENST00000403714.3	37	c.2113	CCDS46231.1	2	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721321	0.68959	.	.	ENSG00000084710	ENST00000401432;ENST00000403714;ENST00000402191;ENST00000545169;ENST00000405108;ENST00000264719	T;T;T;T;T	0.33216	1.48;1.47;1.46;1.47;1.42	4.84	4.84	0.62591	.	0.051400	0.85682	D	0.000000	T	0.37404	0.1002	L	0.38531	1.155	0.58432	D	0.999999	D;D	0.57257	0.979;0.973	P;P	0.53450	0.714;0.726	T	0.05852	-1.0860	10	0.33141	T	0.24	-14.9271	16.508	0.84277	0.0:0.0:1.0:0.0	.	705;705	Q9Y2G0;Q9Y2G0-3	EFR3B_HUMAN;.	Q	705;705;670;670;557;540	ENSP00000386082:E705Q;ENSP00000384081:E705Q;ENSP00000385832:E670Q;ENSP00000384454:E557Q;ENSP00000264719:E540Q	ENSP00000264719:E540Q	E	+	1	0	EFR3B	25221395	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	7.806000	0.86020	2.244000	0.73946	0.467000	0.42956	GAA	EFR3B	-	NULL	ENSG00000084710		0.597	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFR3B	HGNC	protein_coding	OTTHUMT00000324808.1	-	0.00	55	0	G	NM_014971		25367891	+1	tier1	-	no_errors	ENST00000403714	ensembl	human	known	74_37	missense	11.94	59	8	SNP	1.000	C
EFR3B	22979	genome.wustl.edu	37	2	25367891	25367891	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:25367891G>C	ENST00000403714.3	+	19	2296	c.2113G>C	c.(2113-2115)Gaa>Caa	p.E705Q	EFR3B_ENST00000402191.1_Missense_Mutation_p.E670Q|EFR3B_ENST00000401432.3_Missense_Mutation_p.E705Q|EFR3B_ENST00000405108.1_Missense_Mutation_p.E557Q	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	705										endometrium(1)	1						GGTGGAGGTAGAATCGAGGAA	0.597																																																	0													104.0	95.0	98.0					2																	25367891		692	1591	2283	SO:0001583	missense	0			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.2113G>C	2.37:g.25367891G>C	ENSP00000384081:p.Glu705Gln		B7WPL8|Q86XU6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E705Q	ENST00000403714.3	37	c.2113	CCDS46231.1	2	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721321	0.68959	.	.	ENSG00000084710	ENST00000401432;ENST00000403714;ENST00000402191;ENST00000545169;ENST00000405108;ENST00000264719	T;T;T;T;T	0.33216	1.48;1.47;1.46;1.47;1.42	4.84	4.84	0.62591	.	0.051400	0.85682	D	0.000000	T	0.37404	0.1002	L	0.38531	1.155	0.58432	D	0.999999	D;D	0.57257	0.979;0.973	P;P	0.53450	0.714;0.726	T	0.05852	-1.0860	10	0.33141	T	0.24	-14.9271	16.508	0.84277	0.0:0.0:1.0:0.0	.	705;705	Q9Y2G0;Q9Y2G0-3	EFR3B_HUMAN;.	Q	705;705;670;670;557;540	ENSP00000386082:E705Q;ENSP00000384081:E705Q;ENSP00000385832:E670Q;ENSP00000384454:E557Q;ENSP00000264719:E540Q	ENSP00000264719:E540Q	E	+	1	0	EFR3B	25221395	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	7.806000	0.86020	2.244000	0.73946	0.467000	0.42956	GAA	EFR3B	-	NULL	ENSG00000084710		0.597	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFR3B	HGNC	protein_coding	OTTHUMT00000324808.1	-	0.00	92	0	G	NM_014971		25367891	+1	tier1	-	no_errors	ENST00000403714	ensembl	human	known	74_37	missense	11.94	59	8	SNP	1.000	C
EFR3B	22979	genome.wustl.edu	37	2	25377167	25377167	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:25377167C>T	ENST00000403714.3	+	23	2595	c.2412C>T	c.(2410-2412)atC>atT	p.I804I	EFR3B_ENST00000402191.1_Silent_p.I769I|RP11-509E16.1_ENST00000567599.1_lincRNA|EFR3B_ENST00000405108.1_Silent_p.I656I	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	804										endometrium(1)	1						ACCACTCCATCCCCGTCTATG	0.562																																																	0													187.0	187.0	187.0					2																	25377167		692	1591	2283	SO:0001819	synonymous_variant	0			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.2412C>T	2.37:g.25377167C>T			B7WPL8|Q86XU6	Silent	SNP	superfamily_ARM-type_fold	p.I804	ENST00000403714.3	37	c.2412	CCDS46231.1	2																																																																																			EFR3B	-	NULL	ENSG00000084710		0.562	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFR3B	HGNC	protein_coding	OTTHUMT00000324808.1	-	0.00	105	0	C	NM_014971		25377167	+1	tier1	-	no_errors	ENST00000403714	ensembl	human	known	74_37	silent	17.19	53	11	SNP	1.000	T
EFR3B	22979	genome.wustl.edu	37	2	25377167	25377167	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:25377167C>T	ENST00000403714.3	+	23	2595	c.2412C>T	c.(2410-2412)atC>atT	p.I804I	EFR3B_ENST00000402191.1_Silent_p.I769I|RP11-509E16.1_ENST00000567599.1_lincRNA|EFR3B_ENST00000405108.1_Silent_p.I656I	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	804										endometrium(1)	1						ACCACTCCATCCCCGTCTATG	0.562																																																	0													187.0	187.0	187.0					2																	25377167		692	1591	2283	SO:0001819	synonymous_variant	0			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.2412C>T	2.37:g.25377167C>T			B7WPL8|Q86XU6	Silent	SNP	superfamily_ARM-type_fold	p.I804	ENST00000403714.3	37	c.2412	CCDS46231.1	2																																																																																			EFR3B	-	NULL	ENSG00000084710		0.562	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFR3B	HGNC	protein_coding	OTTHUMT00000324808.1	-	0.00	63	0	C	NM_014971		25377167	+1	tier1	-	no_errors	ENST00000403714	ensembl	human	known	74_37	silent	17.19	53	11	SNP	1.000	T
EHD4	30844	genome.wustl.edu	37	15	42264525	42264525	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:42264525G>A	ENST00000220325.4	-	1	251	c.168C>T	c.(166-168)gcC>gcT	p.A56A	CTD-2382E5.1_ENST00000499478.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	56					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCTCGAAGTCGGCGTCCTCCA	0.682																																																	0													113.0	78.0	90.0					15																	42264525		2203	4299	6502	SO:0001819	synonymous_variant	0			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.168C>T	15.37:g.42264525G>A			Q9HAR1|Q9NZN2	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.A56	ENST00000220325.4	37	c.168	CCDS10081.1	15																																																																																			EHD4	-	superfamily_P-loop_NTPase	ENSG00000103966		0.682	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	-	0.00	109	0	G	NM_139265		42264525	-1	tier1	-	no_errors	ENST00000220325	ensembl	human	known	74_37	silent	12.90	54	8	SNP	0.993	A
EHD4	30844	genome.wustl.edu	37	15	42264525	42264525	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:42264525G>A	ENST00000220325.4	-	1	251	c.168C>T	c.(166-168)gcC>gcT	p.A56A	CTD-2382E5.1_ENST00000499478.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	56					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCTCGAAGTCGGCGTCCTCCA	0.682																																																	0													113.0	78.0	90.0					15																	42264525		2203	4299	6502	SO:0001819	synonymous_variant	0			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.168C>T	15.37:g.42264525G>A			Q9HAR1|Q9NZN2	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.A56	ENST00000220325.4	37	c.168	CCDS10081.1	15																																																																																			EHD4	-	superfamily_P-loop_NTPase	ENSG00000103966		0.682	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	-	0.00	117	0	G	NM_139265		42264525	-1	tier1	-	no_errors	ENST00000220325	ensembl	human	known	74_37	silent	12.90	54	8	SNP	0.993	A
EIF3B	8662	genome.wustl.edu	37	7	2418336	2418336	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:2418336G>T	ENST00000360876.4	+	16	2223	c.2167G>T	c.(2167-2169)Gat>Tat	p.D723Y	EIF3B_ENST00000397011.2_Missense_Mutation_p.D723Y	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AATTAAAAAGGATCTGAAGAA	0.408																																																	0													102.0	97.0	99.0					7																	2418336		2203	4300	6503	SO:0001583	missense	0			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.2167G>T	7.37:g.2418336G>T	ENSP00000354125:p.Asp723Tyr			Missense_Mutation	SNP	pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom	p.D723Y	ENST00000360876.4	37	c.2167	CCDS5332.1	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157919	0.78114	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.24151	1.87;1.87	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.72894	2.215	0.80722	D	1	D	0.61697	0.99	P	0.57679	0.825	T	0.49173	-0.8967	10	0.87932	D	0	-36.4579	19.6435	0.95767	0.0:0.0:1.0:0.0	.	723	P55884	EIF3B_HUMAN	Y	723;723;723;647	ENSP00000354125:D723Y;ENSP00000380206:D723Y	ENSP00000316638:D723Y	D	+	1	0	EIF3B	2384862	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.680000	0.98651	2.638000	0.89438	0.655000	0.94253	GAT	EIF3B	-	pirsf_EIF3B	ENSG00000106263		0.408	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	EIF3B	HGNC	protein_coding	OTTHUMT00000207006.1		0.00	69	0	G			2418336	+1			no_errors	ENST00000360876	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
MMP24	10893	genome.wustl.edu	37	20	33867427	33867427	+	IGR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:33867427G>T	ENST00000246186.6	+	0	4412				MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EIF6_ENST00000462894.1_5'Flank|MMP24-AS1_ENST00000433764.1_RNA|EIF6_ENST00000374450.3_Missense_Mutation_p.L224M|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|EDEM2_ENST00000540582.1_5'Flank|EIF6_ENST00000374436.3_Missense_Mutation_p.L224M|EIF6_ENST00000374443.3_Missense_Mutation_p.L205M|MMP24-AS1_ENST00000424358.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)						cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GCTTCATTCAGCTTGAAGACA	0.562																																																	0													245.0	203.0	218.0					20																	33867427		2203	4300	6503	SO:0001628	intergenic_variant	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330		20.37:g.33867427G>T			B7ZBG8|Q9H440	Missense_Mutation	SNP	pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6	p.L224M	ENST00000246186.6	37	c.670	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046309	0.75846	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	5.25	4.3	0.51218	.	0.075317	0.56097	D	0.000035	D	0.84804	0.5553	M	0.92880	3.355	0.54753	D	0.999985	D;D	0.89917	1.0;0.968	D;P	0.80764	0.994;0.9	D	0.88367	0.2992	9	0.87932	D	0	-29.3858	13.4004	0.60879	0.0765:0.0:0.9234:0.0	.	205;224	B7ZBG9;P56537	.;IF6_HUMAN	M	224;205;224	.	ENSP00000363559:L224M	L	-	1	2	EIF6	33330841	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.434000	0.52841	1.367000	0.46095	0.555000	0.69702	CTG	EIF6	-	pirsf_eIF6,tigrfam_eIF6	ENSG00000242372		0.562	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF6	HGNC	protein_coding	OTTHUMT00000078851.4	-	0.00	57	0	G	NM_006690		33867427	-1	tier1	-	no_errors	ENST00000374436	ensembl	human	known	74_37	missense	7.14	51	4	SNP	1.000	T
MMP24	10893	genome.wustl.edu	37	20	33867427	33867427	+	IGR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:33867427G>T	ENST00000246186.6	+	0	4412				MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EIF6_ENST00000462894.1_5'Flank|MMP24-AS1_ENST00000433764.1_RNA|EIF6_ENST00000374450.3_Missense_Mutation_p.L224M|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|EDEM2_ENST00000540582.1_5'Flank|EIF6_ENST00000374436.3_Missense_Mutation_p.L224M|EIF6_ENST00000374443.3_Missense_Mutation_p.L205M|MMP24-AS1_ENST00000424358.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)						cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GCTTCATTCAGCTTGAAGACA	0.562																																																	0													245.0	203.0	218.0					20																	33867427		2203	4300	6503	SO:0001628	intergenic_variant	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330		20.37:g.33867427G>T			B7ZBG8|Q9H440	Missense_Mutation	SNP	pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6	p.L224M	ENST00000246186.6	37	c.670	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046309	0.75846	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	5.25	4.3	0.51218	.	0.075317	0.56097	D	0.000035	D	0.84804	0.5553	M	0.92880	3.355	0.54753	D	0.999985	D;D	0.89917	1.0;0.968	D;P	0.80764	0.994;0.9	D	0.88367	0.2992	9	0.87932	D	0	-29.3858	13.4004	0.60879	0.0765:0.0:0.9234:0.0	.	205;224	B7ZBG9;P56537	.;IF6_HUMAN	M	224;205;224	.	ENSP00000363559:L224M	L	-	1	2	EIF6	33330841	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.434000	0.52841	1.367000	0.46095	0.555000	0.69702	CTG	EIF6	-	pirsf_eIF6,tigrfam_eIF6	ENSG00000242372		0.562	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF6	HGNC	protein_coding	OTTHUMT00000078851.4	-	0.00	59	0	G	NM_006690		33867427	-1	tier1	-	no_errors	ENST00000374436	ensembl	human	known	74_37	missense	7.14	51	4	SNP	1.000	T
ELK1	2002	genome.wustl.edu	37	X	47498581	47498581	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:47498581G>A	ENST00000247161.3	-	3	466	c.367C>T	c.(367-369)Cca>Tca	p.P123S	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.P69S|ELK1_ENST00000376983.3_Missense_Mutation_p.P123S	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	123					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GTGTCCCCTGGGGCGGCATGT	0.637																																																	0													32.0	25.0	27.0					X																	47498581		2203	4300	6503	SO:0001583	missense	0			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.367C>T	X.37:g.47498581G>A	ENSP00000247161:p.Pro123Ser		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P123S	ENST00000247161.3	37	c.367	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.098468	0.01843	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.52526	0.66;0.66	5.32	2.41	0.29592	.	0.164157	0.53938	N	0.000048	T	0.22399	0.0540	N	0.17082	0.46	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.27157	-1.0082	10	0.02654	T	1	.	6.0348	0.19702	0.1849:0.154:0.661:0.0	.	123	P19419	ELK1_HUMAN	S	123	ENSP00000247161:P123S;ENSP00000366182:P123S	ENSP00000247161:P123S	P	-	1	0	ELK1	47383525	0.042000	0.20092	0.008000	0.14137	0.019000	0.09904	0.285000	0.18883	0.553000	0.29044	-0.192000	0.12808	CCA	ELK1	-	NULL	ENSG00000126767		0.637	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	-	0.00	56	0	G	NM_005229		47498581	-1	tier1	-	no_errors	ENST00000247161	ensembl	human	known	74_37	missense	11.48	54	7	SNP	0.014	A
ELK1	2002	genome.wustl.edu	37	X	47498581	47498581	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:47498581G>A	ENST00000247161.3	-	3	466	c.367C>T	c.(367-369)Cca>Tca	p.P123S	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.P69S|ELK1_ENST00000376983.3_Missense_Mutation_p.P123S	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	123					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GTGTCCCCTGGGGCGGCATGT	0.637																																																	0													32.0	25.0	27.0					X																	47498581		2203	4300	6503	SO:0001583	missense	0			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.367C>T	X.37:g.47498581G>A	ENSP00000247161:p.Pro123Ser		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P123S	ENST00000247161.3	37	c.367	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.098468	0.01843	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.52526	0.66;0.66	5.32	2.41	0.29592	.	0.164157	0.53938	N	0.000048	T	0.22399	0.0540	N	0.17082	0.46	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.27157	-1.0082	10	0.02654	T	1	.	6.0348	0.19702	0.1849:0.154:0.661:0.0	.	123	P19419	ELK1_HUMAN	S	123	ENSP00000247161:P123S;ENSP00000366182:P123S	ENSP00000247161:P123S	P	-	1	0	ELK1	47383525	0.042000	0.20092	0.008000	0.14137	0.019000	0.09904	0.285000	0.18883	0.553000	0.29044	-0.192000	0.12808	CCA	ELK1	-	NULL	ENSG00000126767		0.637	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	-	0.00	74	0	G	NM_005229		47498581	-1	tier1	-	no_errors	ENST00000247161	ensembl	human	known	74_37	missense	11.48	54	7	SNP	0.014	A
EMC9	51016	genome.wustl.edu	37	14	24610321	24610321	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:24610321T>G	ENST00000419198.2	-	1	473	c.193A>C	c.(193-195)Aac>Cac	p.N65H	PSME2_ENST00000471700.2_5'Flank|EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000216799.4_Missense_Mutation_p.N65H			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	65						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											GGCACCTGGTTGAGGGCGACC	0.662											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													80.0	87.0	85.0					14																	24610321		2203	4300	6503	SO:0001583	missense	0			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.193A>C	14.37:g.24610321T>G	ENSP00000403210:p.Asn65His	772	D3DS60|Q9BUM3	Missense_Mutation	SNP	pfam_UPF0172	p.N65H	ENST00000419198.2	37	c.193	CCDS9613.1	14	.	.	.	.	.	.	.	.	.	.	T	17.98	3.519652	0.64634	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.42900	0.96;0.96	5.84	4.67	0.58626	.	0.104388	0.64402	N	0.000006	T	0.33235	0.0856	L	0.33485	1.01	0.33521	D	0.59242	B	0.22909	0.077	B	0.23419	0.046	T	0.42515	-0.9447	10	0.54805	T	0.06	-11.3692	11.38	0.49752	0.0:0.0:0.152:0.848	.	65	Q9Y3B6	F158A_HUMAN	H	65	ENSP00000403210:N65H;ENSP00000216799:N65H	ENSP00000216799:N65H	N	-	1	0	FAM158A	23680161	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.376000	0.52417	1.011000	0.39340	0.459000	0.35465	AAC	EMC9	-	pfam_UPF0172	ENSG00000100908		0.662	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EMC9	HGNC	protein_coding	OTTHUMT00000071917.4	-	0.00	76	0	T	NM_016049		24610321	-1	tier1	-	no_errors	ENST00000216799	ensembl	human	known	74_37	missense	8.70	63	6	SNP	1.000	G
EMC9	51016	genome.wustl.edu	37	14	24610321	24610321	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:24610321T>G	ENST00000419198.2	-	1	473	c.193A>C	c.(193-195)Aac>Cac	p.N65H	PSME2_ENST00000471700.2_5'Flank|EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000216799.4_Missense_Mutation_p.N65H			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	65						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											GGCACCTGGTTGAGGGCGACC	0.662											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													80.0	87.0	85.0					14																	24610321		2203	4300	6503	SO:0001583	missense	0			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.193A>C	14.37:g.24610321T>G	ENSP00000403210:p.Asn65His	772	D3DS60|Q9BUM3	Missense_Mutation	SNP	pfam_UPF0172	p.N65H	ENST00000419198.2	37	c.193	CCDS9613.1	14	.	.	.	.	.	.	.	.	.	.	T	17.98	3.519652	0.64634	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.42900	0.96;0.96	5.84	4.67	0.58626	.	0.104388	0.64402	N	0.000006	T	0.33235	0.0856	L	0.33485	1.01	0.33521	D	0.59242	B	0.22909	0.077	B	0.23419	0.046	T	0.42515	-0.9447	10	0.54805	T	0.06	-11.3692	11.38	0.49752	0.0:0.0:0.152:0.848	.	65	Q9Y3B6	F158A_HUMAN	H	65	ENSP00000403210:N65H;ENSP00000216799:N65H	ENSP00000216799:N65H	N	-	1	0	FAM158A	23680161	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.376000	0.52417	1.011000	0.39340	0.459000	0.35465	AAC	EMC9	-	pfam_UPF0172	ENSG00000100908		0.662	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EMC9	HGNC	protein_coding	OTTHUMT00000071917.4	-	0.00	83	0	T	NM_016049		24610321	-1	tier1	-	no_errors	ENST00000216799	ensembl	human	known	74_37	missense	8.70	63	6	SNP	1.000	G
ELMSAN1	91748	genome.wustl.edu	37	14	74206049	74206049	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:74206049G>A	ENST00000286523.5	-	2	1445	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ELMSAN1_ENST00000394071.2_Silent_p.F221F|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	221	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CCTGGTGGCCGAATGCCAGCT	0.652																																																	0													38.0	41.0	40.0					14																	74206049		2203	4300	6503	SO:0001819	synonymous_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.663C>T	14.37:g.74206049G>A			Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.F221	ENST00000286523.5	37	c.663	CCDS9819.1	14																																																																																			ELMSAN1	-	NULL	ENSG00000156030		0.652	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	-	0.00	139	0	G	NM_194278		74206049	-1	tier1	-	no_errors	ENST00000286523	ensembl	human	known	74_37	silent	11.02	113	14	SNP	0.995	A
ELMSAN1	91748	genome.wustl.edu	37	14	74206049	74206049	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:74206049G>A	ENST00000286523.5	-	2	1445	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ELMSAN1_ENST00000394071.2_Silent_p.F221F|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	221	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CCTGGTGGCCGAATGCCAGCT	0.652																																																	0													38.0	41.0	40.0					14																	74206049		2203	4300	6503	SO:0001819	synonymous_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.663C>T	14.37:g.74206049G>A			Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.F221	ENST00000286523.5	37	c.663	CCDS9819.1	14																																																																																			ELMSAN1	-	NULL	ENSG00000156030		0.652	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	-	0.00	154	0	G	NM_194278		74206049	-1	tier1	-	no_errors	ENST00000286523	ensembl	human	known	74_37	silent	11.02	113	14	SNP	0.995	A
EMR3	84658	genome.wustl.edu	37	19	14752277	14752277	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:14752277A>T	ENST00000253673.5	-	10	1302	c.1202T>A	c.(1201-1203)cTg>cAg	p.L401Q	EMR3_ENST00000599900.1_Missense_Mutation_p.L186Q|EMR3_ENST00000344373.4_Missense_Mutation_p.L349Q|EMR3_ENST00000443157.2_Missense_Mutation_p.L275Q	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	401					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GAGGTGGGCCAGGAAGAGGCA	0.577																																																	0													123.0	96.0	105.0					19																	14752277		2203	4300	6503	SO:0001583	missense	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1202T>A	19.37:g.14752277A>T	ENSP00000253673:p.Leu401Gln			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.L401Q	ENST00000253673.5	37	c.1202	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	A	18.41	3.616991	0.66672	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.51574	0.7;0.7;0.7	3.84	3.84	0.44239	GPCR, family 2-like (1);	.	.	.	.	T	0.76630	0.4014	H	0.96208	3.785	0.25239	N	0.989761	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.69072	-0.5242	9	0.87932	D	0	.	10.6207	0.45478	1.0:0.0:0.0:0.0	.	275;349;401	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	Q	275;401;349	ENSP00000396208:L275Q;ENSP00000253673:L401Q;ENSP00000340758:L349Q	ENSP00000253673:L401Q	L	-	2	0	EMR3	14613277	0.982000	0.34865	1.000000	0.80357	0.799000	0.45148	3.659000	0.54489	1.607000	0.50170	0.459000	0.35465	CTG	EMR3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000131355		0.577	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1	-	0.00	82	0	A	NM_032571		14752277	-1	tier1	-	no_errors	ENST00000253673	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T
EMR3	84658	genome.wustl.edu	37	19	14752277	14752277	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:14752277A>T	ENST00000253673.5	-	10	1302	c.1202T>A	c.(1201-1203)cTg>cAg	p.L401Q	EMR3_ENST00000599900.1_Missense_Mutation_p.L186Q|EMR3_ENST00000344373.4_Missense_Mutation_p.L349Q|EMR3_ENST00000443157.2_Missense_Mutation_p.L275Q	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	401					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GAGGTGGGCCAGGAAGAGGCA	0.577																																																	0													123.0	96.0	105.0					19																	14752277		2203	4300	6503	SO:0001583	missense	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1202T>A	19.37:g.14752277A>T	ENSP00000253673:p.Leu401Gln			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.L401Q	ENST00000253673.5	37	c.1202	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	A	18.41	3.616991	0.66672	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.51574	0.7;0.7;0.7	3.84	3.84	0.44239	GPCR, family 2-like (1);	.	.	.	.	T	0.76630	0.4014	H	0.96208	3.785	0.25239	N	0.989761	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.69072	-0.5242	9	0.87932	D	0	.	10.6207	0.45478	1.0:0.0:0.0:0.0	.	275;349;401	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	Q	275;401;349	ENSP00000396208:L275Q;ENSP00000253673:L401Q;ENSP00000340758:L349Q	ENSP00000253673:L401Q	L	-	2	0	EMR3	14613277	0.982000	0.34865	1.000000	0.80357	0.799000	0.45148	3.659000	0.54489	1.607000	0.50170	0.459000	0.35465	CTG	EMR3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000131355		0.577	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1	-	0.00	84	0	A	NM_032571		14752277	-1	tier1	-	no_errors	ENST00000253673	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T
ENO4	387712	genome.wustl.edu	37	10	118628208	118628208	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:118628208A>T	ENST00000409522.1	+	2	268	c.213A>T	c.(211-213)aaA>aaT	p.K71N	ENO4_ENST00000341276.5_Missense_Mutation_p.K349N|ENO4_ENST00000369207.2_Missense_Mutation_p.K111N			A6NNW6	ENO4_HUMAN	enolase family member 4	349					glycolytic process (GO:0006096)	phosphopyruvate hydratase complex (GO:0000015)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			lung(1)	1						ATGGAAGCAAAAGAGGTCAAG	0.408																																																	0																																										SO:0001583	missense	0				CCDS73206.1	10q25.3	2012-04-19	2009-12-15	2009-12-15	ENSG00000188316	ENSG00000188316			31670	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 134"""	C10orf134			Standard	NM_001242699		Approved	AC023283.3	uc021pzj.1	A6NNW6	OTTHUMG00000019113	ENST00000409522.1:c.213A>T	10.37:g.118628208A>T	ENSP00000387194:p.Lys71Asn		B8ZZN9	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N	p.K349N	ENST00000409522.1	37	c.1047		10	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419327	0.62622	.	.	ENSG00000188316	ENST00000409522;ENST00000341276;ENST00000369207	T;T;T	0.68479	-0.33;0.26;-0.1	5.33	4.18	0.49190	.	0.180236	0.48767	D	0.000169	T	0.77412	0.4126	M	0.70595	2.14	0.32829	D	0.50382	D	0.89917	1.0	D	0.87578	0.998	T	0.81404	-0.0948	10	0.72032	D	0.01	-25.8456	7.1236	0.25458	0.8904:0.0:0.1096:0.0	.	71	A6NNW6-2	.	N	71;349;111	ENSP00000387194:K71N;ENSP00000345555:K349N;ENSP00000358208:K111N	ENSP00000345555:K349N	K	+	3	2	ENO4	118618198	0.617000	0.27043	1.000000	0.80357	0.989000	0.77384	-0.063000	0.11655	0.958000	0.37956	0.533000	0.62120	AAA	ENO4	-	NULL	ENSG00000188316		0.408	ENO4-002	PUTATIVE	basic|exp_conf	protein_coding	ENO4	HGNC	protein_coding	OTTHUMT00000331643.1	-	0.00	107	0	A	NM_001242699		118628208	+1	tier1	-	no_errors	ENST00000341276	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.998	T
ENO4	387712	genome.wustl.edu	37	10	118628208	118628208	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:118628208A>T	ENST00000409522.1	+	2	268	c.213A>T	c.(211-213)aaA>aaT	p.K71N	ENO4_ENST00000341276.5_Missense_Mutation_p.K349N|ENO4_ENST00000369207.2_Missense_Mutation_p.K111N			A6NNW6	ENO4_HUMAN	enolase family member 4	349					glycolytic process (GO:0006096)	phosphopyruvate hydratase complex (GO:0000015)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			lung(1)	1						ATGGAAGCAAAAGAGGTCAAG	0.408																																																	0																																										SO:0001583	missense	0				CCDS73206.1	10q25.3	2012-04-19	2009-12-15	2009-12-15	ENSG00000188316	ENSG00000188316			31670	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 134"""	C10orf134			Standard	NM_001242699		Approved	AC023283.3	uc021pzj.1	A6NNW6	OTTHUMG00000019113	ENST00000409522.1:c.213A>T	10.37:g.118628208A>T	ENSP00000387194:p.Lys71Asn		B8ZZN9	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N	p.K349N	ENST00000409522.1	37	c.1047		10	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419327	0.62622	.	.	ENSG00000188316	ENST00000409522;ENST00000341276;ENST00000369207	T;T;T	0.68479	-0.33;0.26;-0.1	5.33	4.18	0.49190	.	0.180236	0.48767	D	0.000169	T	0.77412	0.4126	M	0.70595	2.14	0.32829	D	0.50382	D	0.89917	1.0	D	0.87578	0.998	T	0.81404	-0.0948	10	0.72032	D	0.01	-25.8456	7.1236	0.25458	0.8904:0.0:0.1096:0.0	.	71	A6NNW6-2	.	N	71;349;111	ENSP00000387194:K71N;ENSP00000345555:K349N;ENSP00000358208:K111N	ENSP00000345555:K349N	K	+	3	2	ENO4	118618198	0.617000	0.27043	1.000000	0.80357	0.989000	0.77384	-0.063000	0.11655	0.958000	0.37956	0.533000	0.62120	AAA	ENO4	-	NULL	ENSG00000188316		0.408	ENO4-002	PUTATIVE	basic|exp_conf	protein_coding	ENO4	HGNC	protein_coding	OTTHUMT00000331643.1	-	0.00	40	0	A	NM_001242699		118628208	+1	tier1	-	no_errors	ENST00000341276	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.998	T
RP11-15H20.6	0	genome.wustl.edu	37	19	23444889	23444889	+	RNA	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:23444889G>A	ENST00000397094.1	-	0	547				RP11-15H20.7_ENST00000594653.1_lincRNA																							gacccctgtgggctgtatcaa	0.488																																																	0																																												0																															19.37:g.23444889G>A				RNA	SNP	-	NULL	ENST00000397094.1	37	NULL		19																																																																																			RP11-15H20.6	-	-	ENSG00000213971		0.488	RP11-15H20.6-009	KNOWN	basic	lincRNA	ENSG00000213971	Clone_based_vega_gene	processed_transcript	OTTHUMT00000465752.1	-	0.00	46	0	G			23444889	-1	tier1	-	no_errors	ENST00000397094	ensembl	human	known	74_37	rna	19.40	54	13	SNP	0.064	A
RP11-15H20.6	0	genome.wustl.edu	37	19	23444889	23444889	+	RNA	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:23444889G>A	ENST00000397094.1	-	0	547				RP11-15H20.7_ENST00000594653.1_lincRNA																							gacccctgtgggctgtatcaa	0.488																																																	0																																												0																															19.37:g.23444889G>A				RNA	SNP	-	NULL	ENST00000397094.1	37	NULL		19																																																																																			RP11-15H20.6	-	-	ENSG00000213971		0.488	RP11-15H20.6-009	KNOWN	basic	lincRNA	ENSG00000213971	Clone_based_vega_gene	processed_transcript	OTTHUMT00000465752.1	-	0.00	75	0	G			23444889	-1	tier1	-	no_errors	ENST00000397094	ensembl	human	known	74_37	rna	19.40	54	13	SNP	0.064	A
PVRIG	79037	genome.wustl.edu	37	7	99817694	99817694	+	Intron	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:99817694T>C	ENST00000317271.2	+	3	481				GATS_ENST00000436886.2_Intron|AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGGAGGGTGATGTAGGAC	0.652																																																	0													27.0	28.0	28.0					7																	99817694		2203	4300	6503	SO:0001627	intron_variant	0			BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.119-43T>C	7.37:g.99817694T>C			D6W5U9|Q9BVK3	RNA	SNP	-	NULL	ENST00000317271.2	37	NULL	CCDS5690.1	7																																																																																			AC005071.1	-	-	ENSG00000222482		0.652	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000222482	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000345870.2	-	0.00	73	0	T	NM_024070		99817694	-1	tier1	-	no_errors	ENST00000410550	ensembl	human	novel	74_37	rna	7.58	189	16	SNP	0.000	C
PVRIG	79037	genome.wustl.edu	37	7	99817694	99817694	+	Intron	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:99817694T>C	ENST00000317271.2	+	3	481				GATS_ENST00000436886.2_Intron|AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGGAGGGTGATGTAGGAC	0.652																																																	0													27.0	28.0	28.0					7																	99817694		2203	4300	6503	SO:0001627	intron_variant	0			BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.119-43T>C	7.37:g.99817694T>C			D6W5U9|Q9BVK3	RNA	SNP	-	NULL	ENST00000317271.2	37	NULL	CCDS5690.1	7																																																																																			AC005071.1	-	-	ENSG00000222482		0.652	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000222482	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000345870.2	-	0.00	92	0	T	NM_024070		99817694	-1	tier1	-	no_errors	ENST00000410550	ensembl	human	novel	74_37	rna	7.58	189	16	SNP	0.000	C
AC011718.2	0	genome.wustl.edu	37	22	20640900	20640900	+	lincRNA	SNP	G	G	A	rs546876591	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:20640900G>A	ENST00000577456.1	-	0	660																											CGGCGTCCTCGTTGGCGATGC	0.662																																																	0																																												0																															22.37:g.20640900G>A				RNA	SNP	-	NULL	ENST00000577456.1	37	NULL		22																																																																																			AC011718.2	-	-	ENSG00000223579		0.662	AC011718.2-004	KNOWN	basic	lincRNA	ENSG00000223579	Clone_based_vega_gene	lincRNA	OTTHUMT00000444810.1	-	0.00	571	0	G			20640900	-1	tier1	-	no_errors	ENST00000428139	ensembl	human	known	74_37	rna	8.59	351	33	SNP	0.030	A
RP11-51O6.1	0	genome.wustl.edu	37	16	61089349	61089349	+	RNA	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:61089349T>G	ENST00000591758.1	-	0	519																											ACTCATACAGTTACTTGTCTT	0.323																																																	0																																												0																															16.37:g.61089349T>G				RNA	SNP	-	NULL	ENST00000591758.1	37	NULL		16																																																																																			RP11-51O6.1	-	-	ENSG00000224631		0.323	RP11-51O6.1-002	KNOWN	basic	processed_transcript	ENSG00000224631	Clone_based_vega_gene	pseudogene	OTTHUMT00000460612.1	-	0.00	17	0	T			61089349	-1	tier1	-	no_errors	ENST00000591758	ensembl	human	known	74_37	rna	34.78	15	8	SNP	0.825	G
RP11-51O6.1	0	genome.wustl.edu	37	16	61089349	61089349	+	RNA	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:61089349T>G	ENST00000591758.1	-	0	519																											ACTCATACAGTTACTTGTCTT	0.323																																																	0																																												0																															16.37:g.61089349T>G				RNA	SNP	-	NULL	ENST00000591758.1	37	NULL		16																																																																																			RP11-51O6.1	-	-	ENSG00000224631		0.323	RP11-51O6.1-002	KNOWN	basic	processed_transcript	ENSG00000224631	Clone_based_vega_gene	pseudogene	OTTHUMT00000460612.1	-	0.00	35	0	T			61089349	-1	tier1	-	no_errors	ENST00000591758	ensembl	human	known	74_37	rna	34.78	15	8	SNP	0.825	G
LINC01276	103106903	genome.wustl.edu	37	6	41487171	41487171	+	lincRNA	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:41487171C>G	ENST00000416951.1	+	0	397				RP11-328M4.2_ENST00000440194.1_RNA																							tAGACATGATCATGTGACTGC	0.557																																																	0																																												0																															6.37:g.41487171C>G				RNA	SNP	-	NULL	ENST00000416951.1	37	NULL		6																																																																																			RP11-328M4.3	-	-	ENSG00000226917		0.557	RP11-328M4.3-002	KNOWN	basic	lincRNA	ENSG00000226917	Clone_based_vega_gene	lincRNA	OTTHUMT00000316000.2	-	0.00	43	0	C			41487171	+1	tier1	-	no_errors	ENST00000416951	ensembl	human	known	74_37	rna	12.90	27	4	SNP	0.000	G
LINC01276	103106903	genome.wustl.edu	37	6	41487171	41487171	+	lincRNA	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:41487171C>G	ENST00000416951.1	+	0	397				RP11-328M4.2_ENST00000440194.1_RNA																							tAGACATGATCATGTGACTGC	0.557																																																	0																																												0																															6.37:g.41487171C>G				RNA	SNP	-	NULL	ENST00000416951.1	37	NULL		6																																																																																			RP11-328M4.3	-	-	ENSG00000226917		0.557	RP11-328M4.3-002	KNOWN	basic	lincRNA	ENSG00000226917	Clone_based_vega_gene	lincRNA	OTTHUMT00000316000.2	-	0.00	63	0	C			41487171	+1	tier1	-	no_errors	ENST00000416951	ensembl	human	known	74_37	rna	12.90	27	4	SNP	0.000	G
Unknown	0	genome.wustl.edu	37	13	47040009	47040009	+	IGR	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:47040009A>C								RP11-189B4.6 (6689 upstream) : LRCH1 (87293 downstream)																							gtgtccaagaagaaagctcaa	0.557																																																	0																																										SO:0001628	intergenic_variant	0																															13.37:g.47040009A>C				RNA	SNP	-	NULL		37	NULL		13																																																																																			RP11-189B4.6	-	-	ENSG00000231817	0	0.557					ENSG00000231817	Clone_based_vega_gene			-	0.00	50	0	A			47040009	-1	tier1	-	no_errors	ENST00000594428	ensembl	human	known	74_37	rna	21.95	32	9	SNP	0.233	C
Unknown	0	genome.wustl.edu	37	13	47040009	47040009	+	IGR	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:47040009A>C								RP11-189B4.6 (6689 upstream) : LRCH1 (87293 downstream)																							gtgtccaagaagaaagctcaa	0.557																																																	0																																										SO:0001628	intergenic_variant	0																															13.37:g.47040009A>C				RNA	SNP	-	NULL		37	NULL		13																																																																																			RP11-189B4.6	-	-	ENSG00000231817	0	0.557					ENSG00000231817	Clone_based_vega_gene			-	0.00	63	0	A			47040009	-1	tier1	-	no_errors	ENST00000594428	ensembl	human	known	74_37	rna	21.95	32	9	SNP	0.233	C
RP11-255H23.4	0	genome.wustl.edu	37	19	24014655	24014655	+	lincRNA	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:24014655C>A	ENST00000599944.1	-	0	150				RP11-255H23.2_ENST00000471224.1_RNA																							TAAATTCAAACAAAAAATAAG	0.279																																																	0																																												0																															19.37:g.24014655C>A				RNA	SNP	-	NULL	ENST00000599944.1	37	NULL		19																																																																																			RP11-255H23.2	-	-	ENSG00000233836		0.279	RP11-255H23.4-001	KNOWN	basic	lincRNA	ENSG00000233836	Clone_based_vega_gene	lincRNA	OTTHUMT00000466442.1	-	0.00	38	0	C			24014655	+1	tier1	-	no_errors	ENST00000471224	ensembl	human	known	74_37	rna	17.95	31	7	SNP	0.134	A
RP11-255H23.4	0	genome.wustl.edu	37	19	24014655	24014655	+	lincRNA	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:24014655C>A	ENST00000599944.1	-	0	150				RP11-255H23.2_ENST00000471224.1_RNA																							TAAATTCAAACAAAAAATAAG	0.279																																																	0																																												0																															19.37:g.24014655C>A				RNA	SNP	-	NULL	ENST00000599944.1	37	NULL		19																																																																																			RP11-255H23.2	-	-	ENSG00000233836		0.279	RP11-255H23.4-001	KNOWN	basic	lincRNA	ENSG00000233836	Clone_based_vega_gene	lincRNA	OTTHUMT00000466442.1	-	0.00	53	0	C			24014655	+1	tier1	-	no_errors	ENST00000471224	ensembl	human	known	74_37	rna	17.95	31	7	SNP	0.134	A
PRKAG2	51422	genome.wustl.edu	37	7	151504030	151504031	+	Intron	INS	-	-	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:151504030_151504031insA	ENST00000287878.4	-	2	619				RP13-452N2.1_ENST00000462083.2_RNA|PRKAG2_ENST00000392801.2_Intron	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit						ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	ccagcctgggGAAAAAAAAAAG	0.495																																																	0																																										SO:0001627	intron_variant	0			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.115-20403->T	7.37:g.151504040_151504040dupA			Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	RNA	INS	-	NULL	ENST00000287878.4	37	NULL	CCDS5928.1	7																																																																																			RP13-452N2.1	-	-	ENSG00000242048		0.495	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000242048	Clone_based_vega_gene	protein_coding	OTTHUMT00000348440.2		0.00	55	0	-	NM_016203		151504031	+1	tier1		no_errors	ENST00000462083	ensembl	human	known	74_37	rna	11.11	24	3	INS	0.000:0.004	A
MTRNR2L1	100462977	genome.wustl.edu	37	17	22024359	22024359	+	IGR	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:22024359T>G	ENST00000540040.1	+	0	1555				RP11-846F4.12_ENST00000483901.2_RNA|MTND1P15_ENST00000579693.1_RNA	NM_001190452.1	NP_001177381.1			MT-RNR2-like 1																		TAATCTTAACTTAGGCCTTCT	0.463																																																	0																																										SO:0001628	intergenic_variant	0			CR612552	CCDS54097.1	17p11.2	2014-02-18			ENSG00000256618	ENSG00000256618			37155	protein-coding gene	gene with protein product	"""humanin-like 1"""					19477263	Standard	NM_001190452		Approved		uc002gzb.2	P0CJ68	OTTHUMG00000179068		17.37:g.22024359T>G				RNA	SNP	-	NULL	ENST00000540040.1	37	NULL	CCDS54097.1	17																																																																																			RP11-846F4.12	-	-	ENSG00000243655		0.463	MTRNR2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000243655	Clone_based_vega_gene	protein_coding	OTTHUMT00000444600.2	-	0.00	51	0	T	NM_001190452		22024359	-1	tier1	-	no_errors	ENST00000483901	ensembl	human	known	74_37	rna	12.50	42	6	SNP	0.297	G
MTRNR2L1	100462977	genome.wustl.edu	37	17	22024359	22024359	+	IGR	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:22024359T>G	ENST00000540040.1	+	0	1555				RP11-846F4.12_ENST00000483901.2_RNA|MTND1P15_ENST00000579693.1_RNA	NM_001190452.1	NP_001177381.1			MT-RNR2-like 1																		TAATCTTAACTTAGGCCTTCT	0.463																																																	0																																										SO:0001628	intergenic_variant	0			CR612552	CCDS54097.1	17p11.2	2014-02-18			ENSG00000256618	ENSG00000256618			37155	protein-coding gene	gene with protein product	"""humanin-like 1"""					19477263	Standard	NM_001190452		Approved		uc002gzb.2	P0CJ68	OTTHUMG00000179068		17.37:g.22024359T>G				RNA	SNP	-	NULL	ENST00000540040.1	37	NULL	CCDS54097.1	17																																																																																			RP11-846F4.12	-	-	ENSG00000243655		0.463	MTRNR2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000243655	Clone_based_vega_gene	protein_coding	OTTHUMT00000444600.2	-	0.00	57	0	T	NM_001190452		22024359	-1	tier1	-	no_errors	ENST00000483901	ensembl	human	known	74_37	rna	12.50	42	6	SNP	0.297	G
RP11-146E13.4	0	genome.wustl.edu	37	14	19856879	19856879	+	lincRNA	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:19856879T>G	ENST00000548109.1	+	0	72																											TCAGCAATACTTGTTTAATTA	0.358																																																	0																																												0																															14.37:g.19856879T>G				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-	ENSG00000244306		0.358	RP11-146E13.4-001	KNOWN	basic	lincRNA	ENSG00000244306	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1	-	0.00	172	0	T			19856879	-1	tier1	-	no_errors	ENST00000551334	ensembl	human	known	74_37	rna	9.26	196	20	SNP	1.000	G
RP11-146E13.4	0	genome.wustl.edu	37	14	19856879	19856879	+	lincRNA	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:19856879T>G	ENST00000548109.1	+	0	72																											TCAGCAATACTTGTTTAATTA	0.358																																																	0																																												0																															14.37:g.19856879T>G				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-	ENSG00000244306		0.358	RP11-146E13.4-001	KNOWN	basic	lincRNA	ENSG00000244306	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1	-	0.00	298	0	T			19856879	-1	tier1	-	no_errors	ENST00000551334	ensembl	human	known	74_37	rna	9.26	196	20	SNP	1.000	G
C8orf34	116328	genome.wustl.edu	37	8	69243593	69243593	+	Intron	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:69243593G>A	ENST00000539993.1	+	1	618				C8orf34_ENST00000518698.1_Intron|RP11-664D7.4_ENST00000512294.3_Missense_Mutation_p.L44F|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000523686.1_Intron|C8orf34_ENST00000348340.2_Intron			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34											NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTGTGGAGGAGGGCAGTCCCG	0.577																																																	0																																										SO:0001627	intron_variant	0			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.69+19G>A	8.37:g.69243593G>A			A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	NULL	p.L44F	ENST00000539993.1	37	c.130		8	.	.	.	.	.	.	.	.	.	.	G	8.775	0.926850	0.18056	.	.	ENSG00000248801	ENST00000512294	.	.	.	4.33	0.493	0.16878	.	.	.	.	.	T	0.21841	0.0526	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23297	-1.0192	4	.	.	.	.	2.9669	0.05910	0.3168:0.0:0.4872:0.1959	.	.	.	.	F	44	.	.	L	-	1	0	RP11-664D7.4	69406147	.	.	0.001000	0.08648	0.112000	0.19704	.	.	-0.031000	0.13781	0.558000	0.71614	CTC	RP11-664D7.4	-	NULL	ENSG00000248801		0.577	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	ENSG00000248801	Clone_based_vega_gene	protein_coding			0.00	65	0	G	NM_052958		69243593	-1			no_errors	ENST00000512294	ensembl	human	putative	74_37	missense	5.56	51	3	SNP	0.000	A
ADAD2	161931	genome.wustl.edu	37	16	84228661	84228661	+	Intron	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:84228661T>A	ENST00000315906.5	+	4	659				RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Intron|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2						RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CTGCAGTCTCTCGCCCTGGCG	0.657																																																	0													44.0	48.0	46.0					16																	84228661		2199	4300	6499	SO:0001627	intron_variant	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.608-14T>A	16.37:g.84228661T>A			B2RCL6|Q8NA94	RNA	SNP	-	NULL	ENST00000315906.5	37	NULL	CCDS45536.1	16																																																																																			RP11-486L19.2	-	-	ENSG00000250685		0.657	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250685	Clone_based_vega_gene	protein_coding	OTTHUMT00000433385.1	-	0.00	116	0	T	NM_139174		84228661	-1	tier1	-	no_errors	ENST00000536986	ensembl	human	known	74_37	rna	15.25	50	9	SNP	0.003	A
ADAD2	161931	genome.wustl.edu	37	16	84228661	84228661	+	Intron	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:84228661T>A	ENST00000315906.5	+	4	659				RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Intron|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2						RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CTGCAGTCTCTCGCCCTGGCG	0.657																																																	0													44.0	48.0	46.0					16																	84228661		2199	4300	6499	SO:0001627	intron_variant	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.608-14T>A	16.37:g.84228661T>A			B2RCL6|Q8NA94	RNA	SNP	-	NULL	ENST00000315906.5	37	NULL	CCDS45536.1	16																																																																																			RP11-486L19.2	-	-	ENSG00000250685		0.657	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250685	Clone_based_vega_gene	protein_coding	OTTHUMT00000433385.1	-	0.00	143	0	T	NM_139174		84228661	-1	tier1	-	no_errors	ENST00000536986	ensembl	human	known	74_37	rna	15.25	50	9	SNP	0.003	A
RP11-122L4.1	0	genome.wustl.edu	37	8	39418521	39418522	+	lincRNA	DEL	AC	AC	-	rs149857381|rs370187960		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:39418521_39418522delAC	ENST00000518465.1	+	0	1360				AC123767.1_ENST00000516367.1_RNA																							acatacacatacacacacacac	0.297																																																	0																																												0																															8.37:g.39418531_39418532delAC				RNA	DEL	-	NULL	ENST00000518465.1	37	NULL		8																																																																																			AC123767.1	-	-	ENSG00000252176		0.297	RP11-122L4.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000252176	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000376912.1		0.00	20	0	AC			39418522	+1	tier1		no_errors	ENST00000516367	ensembl	human	novel	74_37	rna	27.27	8	3	DEL	0.000:0.000	-
DCHS1	8642	genome.wustl.edu	37	11	6642704	6642704	+	3'UTR	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:6642704A>T	ENST00000299441.3	-	0	10614				TPP1_ENST00000528657.1_5'Flank|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCCAATAAATAAAGTCTC	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.*306T>A	11.37:g.6642704A>T			O15098	RNA	SNP	-	NULL	ENST00000299441.3	37	NULL	CCDS7771.1	11																																																																																			RP11-732A19.5	-	-	ENSG00000255390		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255390	Clone_based_vega_gene	protein_coding	OTTHUMT00000257258.1	-	0.00	55	0	A	NM_003737		6642704	+1	tier1	-	no_errors	ENST00000526456	ensembl	human	known	74_37	rna	14.63	35	6	SNP	1.000	T
DCHS1	8642	genome.wustl.edu	37	11	6642704	6642704	+	3'UTR	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:6642704A>T	ENST00000299441.3	-	0	10614				TPP1_ENST00000528657.1_5'Flank|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCCAATAAATAAAGTCTC	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.*306T>A	11.37:g.6642704A>T			O15098	RNA	SNP	-	NULL	ENST00000299441.3	37	NULL	CCDS7771.1	11																																																																																			RP11-732A19.5	-	-	ENSG00000255390		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255390	Clone_based_vega_gene	protein_coding	OTTHUMT00000257258.1	-	0.00	62	0	A	NM_003737		6642704	+1	tier1	-	no_errors	ENST00000526456	ensembl	human	known	74_37	rna	14.63	35	6	SNP	1.000	T
RP11-815J4.6	0	genome.wustl.edu	37	18	12076569	12076570	+	RNA	INS	-	-	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:12076569_12076570insG	ENST00000591780.1	-	0	25_26																											ccgcagccTCCcagcagcgcga	0.822																																																	0																																												0																															18.37:g.12076569_12076570insG				RNA	INS	-	NULL	ENST00000591780.1	37	NULL		18																																																																																			RP11-815J4.6	-	-	ENSG00000256616		0.822	RP11-815J4.6-002	KNOWN	basic	processed_transcript	ENSG00000256616	Clone_based_vega_gene	pseudogene	OTTHUMT00000452539.1		0.00	20	0	-			12076570	-1	tier1		no_errors	ENST00000591780	ensembl	human	known	74_37	rna	20.00	12	3	INS	0.996:0.995	G
C11orf97	643037	genome.wustl.edu	37	11	94261248	94261248	+	lincRNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:94261248A>G	ENST00000542198.1	+	0	198																											AAATATTGACAGTGGCCCTGG	0.373																																																	0																																												0																															11.37:g.94261248A>G				Splice_Site	SNP	-	NULL	ENST00000542198.1	37	c.NULL		11																																																																																			RP11-867G2.2	-	-	ENSG00000257057		0.373	RP11-867G2.2-001	KNOWN	basic	lincRNA	ENSG00000257057	Clone_based_vega_gene	lincRNA	OTTHUMT00000396326.1	-	0.00	125	0	A			94261248	+1	tier1	-	no_errors	ENST00000542198	ensembl	human	known	74_37	splice_site	7.53	86	7	SNP	1.000	G
C11orf97	643037	genome.wustl.edu	37	11	94261248	94261248	+	lincRNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:94261248A>G	ENST00000542198.1	+	0	198																											AAATATTGACAGTGGCCCTGG	0.373																																																	0																																												0																															11.37:g.94261248A>G				Splice_Site	SNP	-	NULL	ENST00000542198.1	37	c.NULL		11																																																																																			RP11-867G2.2	-	-	ENSG00000257057		0.373	RP11-867G2.2-001	KNOWN	basic	lincRNA	ENSG00000257057	Clone_based_vega_gene	lincRNA	OTTHUMT00000396326.1	-	0.00	171	0	A			94261248	+1	tier1	-	no_errors	ENST00000542198	ensembl	human	known	74_37	splice_site	7.53	86	7	SNP	1.000	G
KCNC2	3747	genome.wustl.edu	37	12	75435986	75435987	+	3'UTR	INS	-	-	T	rs537467144		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:75435986_75435987insT	ENST00000549446.1	-	0	3495_3496				RP11-81K13.1_ENST00000549762.1_RNA|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000548513.1_Intron|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000550433.1_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AACCCTGGGTATTTTTTTTTTT	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*899->A	12.37:g.75435997_75435997dupT			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	RNA	INS	-	NULL	ENST00000549446.1	37	NULL	CCDS9007.1	12																																																																																			RP11-81K13.1	-	-	ENSG00000257434		0.371	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000257434	Clone_based_vega_gene	protein_coding	OTTHUMT00000405581.2		0.00	22	0	-	NM_153748		75435987	+1	tier1		no_errors	ENST00000547040	ensembl	human	known	74_37	rna	16.00	21	4	INS	0.003:0.005	T
RP11-1166P10.1	0	genome.wustl.edu	37	16	31993268	31993268	+	RNA	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:31993268G>A	ENST00000568570.1	+	0	78																											GCTGAGCAAGGAgcggcggga	0.756																																																	0																																												0																															16.37:g.31993268G>A				RNA	SNP	-	NULL	ENST00000568570.1	37	NULL		16																																																																																			RP11-1166P10.1	-	-	ENSG00000260628		0.756	RP11-1166P10.1-002	KNOWN	basic	processed_transcript	ENSG00000260628	Clone_based_vega_gene	pseudogene	OTTHUMT00000432457.1	-	0.00	105	0	G			31993268	+1	tier1	-	no_errors	ENST00000568570	ensembl	human	known	74_37	rna	25.00	60	20	SNP	1.000	A
RP11-1166P10.1	0	genome.wustl.edu	37	16	31993268	31993268	+	RNA	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:31993268G>A	ENST00000568570.1	+	0	78																											GCTGAGCAAGGAgcggcggga	0.756																																																	0																																												0																															16.37:g.31993268G>A				RNA	SNP	-	NULL	ENST00000568570.1	37	NULL		16																																																																																			RP11-1166P10.1	-	-	ENSG00000260628		0.756	RP11-1166P10.1-002	KNOWN	basic	processed_transcript	ENSG00000260628	Clone_based_vega_gene	pseudogene	OTTHUMT00000432457.1	-	0.00	109	0	G			31993268	+1	tier1	-	no_errors	ENST00000568570	ensembl	human	known	74_37	rna	25.00	60	20	SNP	1.000	A
RP11-640N20.9	0	genome.wustl.edu	37	17	30434424	30434424	+	RNA	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:30434424T>A	ENST00000580412.1	-	0	100																											GTTGCACTGTTGGTTGAGGAA	0.428																																																	0																																												0																															17.37:g.30434424T>A				RNA	SNP	-	NULL	ENST00000580412.1	37	NULL		17																																																																																			RP11-640N20.9	-	-	ENSG00000263369		0.428	RP11-640N20.9-002	KNOWN	basic	processed_transcript	ENSG00000263369	Clone_based_vega_gene	pseudogene	OTTHUMT00000447095.1	-	0.00	129	0	T			30434424	-1	tier1	-	no_errors	ENST00000580412	ensembl	human	known	74_37	rna	5.07	131	7	SNP	0.920	A
RP11-640N20.9	0	genome.wustl.edu	37	17	30434424	30434424	+	RNA	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:30434424T>A	ENST00000580412.1	-	0	100																											GTTGCACTGTTGGTTGAGGAA	0.428																																																	0																																												0																															17.37:g.30434424T>A				RNA	SNP	-	NULL	ENST00000580412.1	37	NULL		17																																																																																			RP11-640N20.9	-	-	ENSG00000263369		0.428	RP11-640N20.9-002	KNOWN	basic	processed_transcript	ENSG00000263369	Clone_based_vega_gene	pseudogene	OTTHUMT00000447095.1	-	0.00	158	0	T			30434424	-1	tier1	-	no_errors	ENST00000580412	ensembl	human	known	74_37	rna	5.07	131	7	SNP	0.920	A
RP11-583F2.1	0	genome.wustl.edu	37	17	62923869	62923869	+	RNA	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:62923869C>A	ENST00000583052.1	+	0	0																											TAAACAGGCACAAGAGGGCAG	0.393																																																	0																																												0																															17.37:g.62923869C>A				RNA	SNP	-	NULL	ENST00000583052.1	37	NULL		17																																																																																			RP11-583F2.1	-	-	ENSG00000264057		0.393	RP11-583F2.1-003	KNOWN	basic	processed_transcript	ENSG00000264057	Clone_based_vega_gene	pseudogene	OTTHUMT00000445715.1	-	0.00	139	0	C			62923869	+1	tier1	-	no_errors	ENST00000585187	ensembl	human	known	74_37	rna	11.81	112	15	SNP	1.000	A
RP11-583F2.1	0	genome.wustl.edu	37	17	62923869	62923869	+	RNA	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:62923869C>A	ENST00000583052.1	+	0	0																											TAAACAGGCACAAGAGGGCAG	0.393																																																	0																																												0																															17.37:g.62923869C>A				RNA	SNP	-	NULL	ENST00000583052.1	37	NULL		17																																																																																			RP11-583F2.1	-	-	ENSG00000264057		0.393	RP11-583F2.1-003	KNOWN	basic	processed_transcript	ENSG00000264057	Clone_based_vega_gene	pseudogene	OTTHUMT00000445715.1	-	0.00	192	0	C			62923869	+1	tier1	-	no_errors	ENST00000585187	ensembl	human	known	74_37	rna	11.81	112	15	SNP	1.000	A
EPB41L3	23136	genome.wustl.edu	37	18	5630574	5630574	+	IGR	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:5630574C>T								SNORD112 (51090 upstream) : AP001032.1 (31369 downstream)																							CTCCTGGAGGCTGGAAGGGGC	0.706																																																	0													20.0	24.0	23.0					18																	5630574		875	1990	2865	SO:0001628	intergenic_variant	0																															18.37:g.5630574C>T				RNA	SNP	-	NULL		37	NULL		18	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927018	0.18056	.	.	ENSG00000082397	ENST00000542652	.	.	.	4.71	1.82	0.25136	.	.	.	.	.	T	0.41926	0.1180	.	.	.	0.23113	N	0.998279	.	.	.	.	.	.	T	0.36456	-0.9747	5	0.87932	D	0	.	6.8369	0.23941	0.0:0.5668:0.3382:0.095	.	.	.	.	T	23	.	ENSP00000443394:A23T	A	-	1	0	EPB41L3	5620574	0.351000	0.24887	0.128000	0.21923	0.298000	0.27526	0.149000	0.16243	0.180000	0.19960	0.462000	0.41574	GCC	EPB41L3	-	-	ENSG00000082397	0	0.706					EPB41L3	HGNC			-	0.00	49	0	C			5630574	-1	tier1	-	no_errors	ENST00000578431	ensembl	human	known	74_37	rna	30.23	30	13	SNP	0.240	T
EPB41L3	23136	genome.wustl.edu	37	18	5630574	5630574	+	IGR	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:5630574C>T								SNORD112 (51090 upstream) : AP001032.1 (31369 downstream)																							CTCCTGGAGGCTGGAAGGGGC	0.706																																																	0													20.0	24.0	23.0					18																	5630574		875	1990	2865	SO:0001628	intergenic_variant	0																															18.37:g.5630574C>T				RNA	SNP	-	NULL		37	NULL		18	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927018	0.18056	.	.	ENSG00000082397	ENST00000542652	.	.	.	4.71	1.82	0.25136	.	.	.	.	.	T	0.41926	0.1180	.	.	.	0.23113	N	0.998279	.	.	.	.	.	.	T	0.36456	-0.9747	5	0.87932	D	0	.	6.8369	0.23941	0.0:0.5668:0.3382:0.095	.	.	.	.	T	23	.	ENSP00000443394:A23T	A	-	1	0	EPB41L3	5620574	0.351000	0.24887	0.128000	0.21923	0.298000	0.27526	0.149000	0.16243	0.180000	0.19960	0.462000	0.41574	GCC	EPB41L3	-	-	ENSG00000082397	0	0.706					EPB41L3	HGNC			-	0.00	56	0	C			5630574	-1	tier1	-	no_errors	ENST00000578431	ensembl	human	known	74_37	rna	30.23	30	13	SNP	0.240	T
RP11-757O6.1	0	genome.wustl.edu	37	18	14251963	14251963	+	lincRNA	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:14251963A>C	ENST00000580200.1	+	0	391																											TGTTGACCCAAGCAGGCTTCC	0.522																																																	0																																												0																															18.37:g.14251963A>C				Splice_Site	SNP	-	NULL	ENST00000580200.1	37	c.NULL		18																																																																																			RP11-757O6.1	-	-	ENSG00000264222		0.522	RP11-757O6.1-001	KNOWN	basic	lincRNA	ENSG00000264222	Clone_based_vega_gene	lincRNA	OTTHUMT00000442841.1	-	0.00	13	0	A			14251963	+1	tier1	-	no_errors	ENST00000580200	ensembl	human	known	74_37	splice_site	36.84	12	7	SNP	0.387	C
RP11-757O6.1	0	genome.wustl.edu	37	18	14251963	14251963	+	lincRNA	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:14251963A>C	ENST00000580200.1	+	0	391																											TGTTGACCCAAGCAGGCTTCC	0.522																																																	0																																												0																															18.37:g.14251963A>C				Splice_Site	SNP	-	NULL	ENST00000580200.1	37	c.NULL		18																																																																																			RP11-757O6.1	-	-	ENSG00000264222		0.522	RP11-757O6.1-001	KNOWN	basic	lincRNA	ENSG00000264222	Clone_based_vega_gene	lincRNA	OTTHUMT00000442841.1	-	0.00	16	0	A			14251963	+1	tier1	-	no_errors	ENST00000580200	ensembl	human	known	74_37	splice_site	36.84	12	7	SNP	0.387	C
EPHB1	2047	genome.wustl.edu	37	3	134911630	134911630	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:134911630T>G	ENST00000398015.3	+	11	2465	c.2095T>G	c.(2095-2097)Ttc>Gtc	p.F699V	EPHB1_ENST00000493838.1_Missense_Mutation_p.F260V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	699	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATCACAGAGTTCATGGAGAA	0.527																																																	0													109.0	106.0	107.0					3																	134911630		2194	4297	6491	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2095T>G	3.37:g.134911630T>G	ENSP00000381097:p.Phe699Val		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.F699V	ENST00000398015.3	37	c.2095	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	T	27.0	4.792527	0.90453	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.63913	-0.07;-0.07	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80773	0.4687	M	0.84156	2.68	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84048	0.0368	10	0.87932	D	0	.	15.5089	0.75764	0.0:0.0:0.0:1.0	.	699	P54762	EPHB1_HUMAN	V	699;260	ENSP00000381097:F699V;ENSP00000419574:F260V	ENSP00000381097:F699V	F	+	1	0	EPHB1	136394320	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.993000	0.88291	2.076000	0.62316	0.459000	0.35465	TTC	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154928		0.527	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0.00	68	0	T	NM_004441		134911630	+1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	missense	8.33	66	6	SNP	1.000	G
EPHB1	2047	genome.wustl.edu	37	3	134911630	134911630	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:134911630T>G	ENST00000398015.3	+	11	2465	c.2095T>G	c.(2095-2097)Ttc>Gtc	p.F699V	EPHB1_ENST00000493838.1_Missense_Mutation_p.F260V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	699	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATCACAGAGTTCATGGAGAA	0.527																																																	0													109.0	106.0	107.0					3																	134911630		2194	4297	6491	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2095T>G	3.37:g.134911630T>G	ENSP00000381097:p.Phe699Val		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.F699V	ENST00000398015.3	37	c.2095	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	T	27.0	4.792527	0.90453	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.63913	-0.07;-0.07	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80773	0.4687	M	0.84156	2.68	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84048	0.0368	10	0.87932	D	0	.	15.5089	0.75764	0.0:0.0:0.0:1.0	.	699	P54762	EPHB1_HUMAN	V	699;260	ENSP00000381097:F699V;ENSP00000419574:F260V	ENSP00000381097:F699V	F	+	1	0	EPHB1	136394320	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.993000	0.88291	2.076000	0.62316	0.459000	0.35465	TTC	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154928		0.527	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0.00	81	0	T	NM_004441		134911630	+1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	missense	8.33	66	6	SNP	1.000	G
EPHB1	2047	genome.wustl.edu	37	3	134960052	134960052	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:134960052A>G	ENST00000398015.3	+	13	2779	c.2409A>G	c.(2407-2409)tcA>tcG	p.S803S	EPHB1_ENST00000493838.1_Silent_p.S364S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	803	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGTTCACTTCAGCCAGCGACG	0.522																																																	0													195.0	199.0	198.0					3																	134960052		2118	4267	6385	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2409A>G	3.37:g.134960052A>G			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S803	ENST00000398015.3	37	c.2409	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154928		0.522	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0.00	83	0	A	NM_004441		134960052	+1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	7.14	65	5	SNP	0.413	G
EPHB1	2047	genome.wustl.edu	37	3	134960052	134960052	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:134960052A>G	ENST00000398015.3	+	13	2779	c.2409A>G	c.(2407-2409)tcA>tcG	p.S803S	EPHB1_ENST00000493838.1_Silent_p.S364S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	803	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGTTCACTTCAGCCAGCGACG	0.522																																																	0													195.0	199.0	198.0					3																	134960052		2118	4267	6385	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2409A>G	3.37:g.134960052A>G			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S803	ENST00000398015.3	37	c.2409	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154928		0.522	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0.00	88	0	A	NM_004441		134960052	+1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	7.14	65	5	SNP	0.413	G
EPPK1	83481	genome.wustl.edu	37	8	144942164	144942164	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:144942164C>T	ENST00000525985.1	-	2	5329	c.5258G>A	c.(5257-5259)gGc>gAc	p.G1753D				P58107	EPIPL_HUMAN	epiplakin 1	1753						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTACAGGCCCGTCTCGGG	0.547																																																	0													108.0	109.0	109.0					8																	144942164		1985	4167	6152	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5258G>A	8.37:g.144942164C>T	ENSP00000436337:p.Gly1753Asp		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.G1753D	ENST00000525985.1	37	c.5258		8	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094817	0.76870	.	.	ENSG00000227184	ENST00000525985	T	0.73575	-0.76	5.1	5.1	0.69264	.	.	.	.	.	D	0.84660	0.5521	M	0.69358	2.11	0.43628	D	0.996011	D	0.89917	1.0	D	0.91635	0.999	D	0.85280	0.1061	9	0.56958	D	0.05	.	16.0335	0.80603	0.0:1.0:0.0:0.0	.	1753	E9PPU0	.	D	1753	ENSP00000436337:G1753D	ENSP00000436337:G1753D	G	-	2	0	EPPK1	145014152	0.998000	0.40836	0.545000	0.28153	0.459000	0.32528	3.829000	0.55760	2.648000	0.89879	0.585000	0.79938	GGC	EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.547	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0.00	119	0	C	NM_031308		144942164	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	10.58	93	11	SNP	1.000	T
EPPK1	83481	genome.wustl.edu	37	8	144942164	144942164	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:144942164C>T	ENST00000525985.1	-	2	5329	c.5258G>A	c.(5257-5259)gGc>gAc	p.G1753D				P58107	EPIPL_HUMAN	epiplakin 1	1753						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTACAGGCCCGTCTCGGG	0.547																																																	0													108.0	109.0	109.0					8																	144942164		1985	4167	6152	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5258G>A	8.37:g.144942164C>T	ENSP00000436337:p.Gly1753Asp		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.G1753D	ENST00000525985.1	37	c.5258		8	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094817	0.76870	.	.	ENSG00000227184	ENST00000525985	T	0.73575	-0.76	5.1	5.1	0.69264	.	.	.	.	.	D	0.84660	0.5521	M	0.69358	2.11	0.43628	D	0.996011	D	0.89917	1.0	D	0.91635	0.999	D	0.85280	0.1061	9	0.56958	D	0.05	.	16.0335	0.80603	0.0:1.0:0.0:0.0	.	1753	E9PPU0	.	D	1753	ENSP00000436337:G1753D	ENSP00000436337:G1753D	G	-	2	0	EPPK1	145014152	0.998000	0.40836	0.545000	0.28153	0.459000	0.32528	3.829000	0.55760	2.648000	0.89879	0.585000	0.79938	GGC	EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.547	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0.00	123	0	C	NM_031308		144942164	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	10.58	93	11	SNP	1.000	T
ERBB4	2066	genome.wustl.edu	37	2	212566835	212566835	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:212566835G>T	ENST00000342788.4	-	12	1656	c.1346C>A	c.(1345-1347)tCc>tAc	p.S449Y	ERBB4_ENST00000402597.1_Missense_Mutation_p.S449Y|ERBB4_ENST00000436443.1_Missense_Mutation_p.S449Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	449					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTCCTTCAGGGACTGGAACTG	0.458										TSP Lung(8;0.080)																																							0													151.0	137.0	142.0					2																	212566835		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1346C>A	2.37:g.212566835G>T	ENSP00000342235:p.Ser449Tyr		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S449Y	ENST00000342788.4	37	c.1346	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.840143|4.840143	0.91117|0.91117	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.52754	.|0.65;0.65;0.65	5.71|5.71	5.71|5.71	0.89125|0.89125	.|EGF receptor, L domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78547|0.78547	0.4300|0.4300	M|M	0.93898|0.93898	3.47|3.47	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	D|D	0.83661|0.83661	0.0161|0.0161	5|10	.|0.87932	.|D	.|0	.|.	19.8769|19.8769	0.96880|0.96880	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|449;449;308;449;449	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	T|Y	449|449	.|ENSP00000342235:S449Y;ENSP00000403204:S449Y;ENSP00000385565:S449Y	.|ENSP00000342235:S449Y	P|S	-|-	1|2	0|0	ERBB4|ERBB4	212275080|212275080	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	9.837000|9.837000	0.99465|0.99465	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	CCC|TCC	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000178568		0.458	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0.00	45	0	G	NM_001042599		212566835	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T
ERBB4	2066	genome.wustl.edu	37	2	212566835	212566835	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:212566835G>T	ENST00000342788.4	-	12	1656	c.1346C>A	c.(1345-1347)tCc>tAc	p.S449Y	ERBB4_ENST00000402597.1_Missense_Mutation_p.S449Y|ERBB4_ENST00000436443.1_Missense_Mutation_p.S449Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	449					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTCCTTCAGGGACTGGAACTG	0.458										TSP Lung(8;0.080)																																							0													151.0	137.0	142.0					2																	212566835		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1346C>A	2.37:g.212566835G>T	ENSP00000342235:p.Ser449Tyr		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S449Y	ENST00000342788.4	37	c.1346	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.840143|4.840143	0.91117|0.91117	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.52754	.|0.65;0.65;0.65	5.71|5.71	5.71|5.71	0.89125|0.89125	.|EGF receptor, L domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78547|0.78547	0.4300|0.4300	M|M	0.93898|0.93898	3.47|3.47	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	D|D	0.83661|0.83661	0.0161|0.0161	5|10	.|0.87932	.|D	.|0	.|.	19.8769|19.8769	0.96880|0.96880	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|449;449;308;449;449	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	T|Y	449|449	.|ENSP00000342235:S449Y;ENSP00000403204:S449Y;ENSP00000385565:S449Y	.|ENSP00000342235:S449Y	P|S	-|-	1|2	0|0	ERBB4|ERBB4	212275080|212275080	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	9.837000|9.837000	0.99465|0.99465	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	CCC|TCC	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000178568		0.458	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0.00	87	0	G	NM_001042599		212566835	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T
ERMARD	55780	genome.wustl.edu	37	6	170176094	170176094	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:170176094G>A	ENST00000366773.3	+	15	1486	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	ERMARD_ENST00000392095.4_Missense_Mutation_p.E359K|ERMARD_ENST00000418781.3_Missense_Mutation_p.E485K|ERMARD_ENST00000366772.2_Missense_Mutation_p.E485K|ERMARD_ENST00000588451.1_Missense_Mutation_p.E349K	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	485					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AATGACGGATGAGCTGTATCA	0.368																																																	0													140.0	119.0	126.0					6																	170176094		2203	4300	6503	SO:0001583	missense	0			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1453G>A	6.37:g.170176094G>A	ENSP00000355735:p.Glu485Lys		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.E485K	ENST00000366773.3	37	c.1453	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	.	14.27	2.485968	0.44147	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.46819	0.86;0.86	5.27	4.4	0.53042	.	0.261486	0.33144	N	0.005222	T	0.48642	0.1511	M	0.77616	2.38	0.18873	N	0.999987	D;P;D	0.56521	0.965;0.906;0.976	P;P;P	0.55871	0.786;0.602;0.761	T	0.47018	-0.9149	10	0.59425	D	0.04	.	11.1478	0.48440	0.0867:0.0:0.9133:0.0	.	485;485;485	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	K	485;485;485;359;133	ENSP00000355735:E485K;ENSP00000375945:E359K	ENSP00000355733:E133K	E	+	1	0	C6orf70	169918019	0.958000	0.32768	0.068000	0.19968	0.002000	0.02628	2.058000	0.41374	1.361000	0.45981	0.558000	0.71614	GAG	ERMARD	-	NULL	ENSG00000130023		0.368	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMARD	HGNC	protein_coding	OTTHUMT00000043238.2	-	0.00	30	0	G	NM_018341		170176094	+1	tier1	-	no_errors	ENST00000366773	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.280	A
ERMARD	55780	genome.wustl.edu	37	6	170176094	170176094	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:170176094G>A	ENST00000366773.3	+	15	1486	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	ERMARD_ENST00000392095.4_Missense_Mutation_p.E359K|ERMARD_ENST00000418781.3_Missense_Mutation_p.E485K|ERMARD_ENST00000366772.2_Missense_Mutation_p.E485K|ERMARD_ENST00000588451.1_Missense_Mutation_p.E349K	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	485					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AATGACGGATGAGCTGTATCA	0.368																																																	0													140.0	119.0	126.0					6																	170176094		2203	4300	6503	SO:0001583	missense	0			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1453G>A	6.37:g.170176094G>A	ENSP00000355735:p.Glu485Lys		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.E485K	ENST00000366773.3	37	c.1453	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	.	14.27	2.485968	0.44147	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.46819	0.86;0.86	5.27	4.4	0.53042	.	0.261486	0.33144	N	0.005222	T	0.48642	0.1511	M	0.77616	2.38	0.18873	N	0.999987	D;P;D	0.56521	0.965;0.906;0.976	P;P;P	0.55871	0.786;0.602;0.761	T	0.47018	-0.9149	10	0.59425	D	0.04	.	11.1478	0.48440	0.0867:0.0:0.9133:0.0	.	485;485;485	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	K	485;485;485;359;133	ENSP00000355735:E485K;ENSP00000375945:E359K	ENSP00000355733:E133K	E	+	1	0	C6orf70	169918019	0.958000	0.32768	0.068000	0.19968	0.002000	0.02628	2.058000	0.41374	1.361000	0.45981	0.558000	0.71614	GAG	ERMARD	-	NULL	ENSG00000130023		0.368	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMARD	HGNC	protein_coding	OTTHUMT00000043238.2	-	0.00	43	0	G	NM_018341		170176094	+1	tier1	-	no_errors	ENST00000366773	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.280	A
ERV3-1	2086	genome.wustl.edu	37	7	64452676	64452676	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:64452676A>C	ENST00000394323.2	-	2	1229	c.729T>G	c.(727-729)acT>acG	p.T243T	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	243						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						agcgggtccgagttttcttta	0.468																																																	0													65.0	68.0	67.0					7																	64452676		1939	4147	6086	SO:0001819	synonymous_variant	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.729T>G	7.37:g.64452676A>C				Silent	SNP	NULL	p.T243	ENST00000394323.2	37	c.729	CCDS47595.1	7																																																																																			ERV3-1	-	NULL	ENSG00000213462		0.468	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	-	0.00	35	0	A	NM_001007253		64452676	-1	tier1	-	no_errors	ENST00000394323	ensembl	human	known	74_37	silent	31.03	20	9	SNP	0.633	C
ERV3-1	2086	genome.wustl.edu	37	7	64452676	64452676	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:64452676A>C	ENST00000394323.2	-	2	1229	c.729T>G	c.(727-729)acT>acG	p.T243T	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	243						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						agcgggtccgagttttcttta	0.468																																																	0													65.0	68.0	67.0					7																	64452676		1939	4147	6086	SO:0001819	synonymous_variant	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.729T>G	7.37:g.64452676A>C				Silent	SNP	NULL	p.T243	ENST00000394323.2	37	c.729	CCDS47595.1	7																																																																																			ERV3-1	-	NULL	ENSG00000213462		0.468	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	-	0.00	36	0	A	NM_001007253		64452676	-1	tier1	-	no_errors	ENST00000394323	ensembl	human	known	74_37	silent	31.03	20	9	SNP	0.633	C
EVA1A	84141	genome.wustl.edu	37	2	75745265	75745265	+	Start_Codon_SNP	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:75745265A>G	ENST00000233712.1	-	3	439	c.2T>C	c.(1-3)aTg>aCg	p.M1T	EVA1A_ENST00000410071.1_Start_Codon_SNP_p.M1T|EVA1A_ENST00000410010.1_5'Flank|EVA1A_ENST00000490746.1_5'UTR|EVA1A_ENST00000393913.3_Start_Codon_SNP_p.M1T|EVA1A_ENST00000410113.1_Start_Codon_SNP_p.M1T	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	1	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											GGGCAGCCTCATGGGACATCC	0.542																																																	0													84.0	78.0	80.0					2																	75745265		2203	4300	6503	SO:0001582	initiator_codon_variant	0			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.2T>C	2.37:g.75745265A>G	ENSP00000233712:p.Met1Thr		D6W5J3|Q9HC41	Missense_Mutation	SNP	NULL	p.M1T	ENST00000233712.1	37	c.2	CCDS1959.1	2	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259471	0.59321	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.71	-1.08	0.09936	.	1.338640	0.04443	N	0.371239	T	0.29355	0.0731	.	.	.	0.38222	D	0.940779	B	0.02656	0.0	B	0.01281	0.0	T	0.41324	-0.9515	9	0.87932	D	0	-3.56	1.6671	0.02804	0.3902:0.3449:0.0976:0.1673	.	1	Q9H8M9	F176A_HUMAN	T	1	ENSP00000377490:M1T;ENSP00000233712:M1T;ENSP00000386435:M1T;ENSP00000386930:M1T	ENSP00000233712:M1T	M	-	2	0	FAM176A	75598773	0.000000	0.05858	0.027000	0.17364	0.653000	0.38743	-0.117000	0.10708	0.035000	0.15519	0.443000	0.29094	ATG	EVA1A	-	NULL	ENSG00000115363		0.542	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EVA1A	HGNC	protein_coding	OTTHUMT00000328707.1	-	0.00	64	0	A	NM_032181	Missense_Mutation	75745265	-1	tier1	-	no_errors	ENST00000233712	ensembl	human	known	74_37	missense	50.00	26	26	SNP	0.041	G
EVA1A	84141	genome.wustl.edu	37	2	75745265	75745265	+	Start_Codon_SNP	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:75745265A>G	ENST00000233712.1	-	3	439	c.2T>C	c.(1-3)aTg>aCg	p.M1T	EVA1A_ENST00000410071.1_Start_Codon_SNP_p.M1T|EVA1A_ENST00000410010.1_5'Flank|EVA1A_ENST00000490746.1_5'UTR|EVA1A_ENST00000393913.3_Start_Codon_SNP_p.M1T|EVA1A_ENST00000410113.1_Start_Codon_SNP_p.M1T	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	1	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											GGGCAGCCTCATGGGACATCC	0.542																																																	0													84.0	78.0	80.0					2																	75745265		2203	4300	6503	SO:0001582	initiator_codon_variant	0			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.2T>C	2.37:g.75745265A>G	ENSP00000233712:p.Met1Thr		D6W5J3|Q9HC41	Missense_Mutation	SNP	NULL	p.M1T	ENST00000233712.1	37	c.2	CCDS1959.1	2	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259471	0.59321	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.71	-1.08	0.09936	.	1.338640	0.04443	N	0.371239	T	0.29355	0.0731	.	.	.	0.38222	D	0.940779	B	0.02656	0.0	B	0.01281	0.0	T	0.41324	-0.9515	9	0.87932	D	0	-3.56	1.6671	0.02804	0.3902:0.3449:0.0976:0.1673	.	1	Q9H8M9	F176A_HUMAN	T	1	ENSP00000377490:M1T;ENSP00000233712:M1T;ENSP00000386435:M1T;ENSP00000386930:M1T	ENSP00000233712:M1T	M	-	2	0	FAM176A	75598773	0.000000	0.05858	0.027000	0.17364	0.653000	0.38743	-0.117000	0.10708	0.035000	0.15519	0.443000	0.29094	ATG	EVA1A	-	NULL	ENSG00000115363		0.542	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EVA1A	HGNC	protein_coding	OTTHUMT00000328707.1	-	0.00	71	0	A	NM_032181	Missense_Mutation	75745265	-1	tier1	-	no_errors	ENST00000233712	ensembl	human	known	74_37	missense	50.00	26	26	SNP	0.041	G
EYA1	2138	genome.wustl.edu	37	8	72234487	72234487	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:72234487A>G	ENST00000340726.3	-	5	858	c.219T>C	c.(217-219)agT>agC	p.S73S	EYA1_ENST00000388740.3_Silent_p.S40S|EYA1_ENST00000388741.2_Silent_p.S40S|EYA1_ENST00000419131.1_Silent_p.S73S|EYA1_ENST00000388742.4_Silent_p.S73S|EYA1_ENST00000303824.7_Silent_p.S73S|EYA1_ENST00000388743.2_Silent_p.S73S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	73					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTGGGCTGAAACTACTGCTCC	0.353																																																	0													102.0	105.0	104.0					8																	72234487		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.219T>C	8.37:g.72234487A>G			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.S73	ENST00000340726.3	37	c.219	CCDS34906.1	8																																																																																			EYA1	-	NULL	ENSG00000104313		0.353	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	-	0.00	59	0	A	NM_000503, NM_172060		72234487	-1	tier1	-	no_errors	ENST00000340726	ensembl	human	known	74_37	silent	65.38	18	34	SNP	1.000	G
FA2H	79152	genome.wustl.edu	37	16	74753017	74753017	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:74753017A>G	ENST00000219368.3	-	5	724	c.655T>C	c.(655-657)Ttc>Ctc	p.F219L	FA2H_ENST00000544337.1_Missense_Mutation_p.F6L	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	219					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CCCAGCATGAAGAGCCCGGGG	0.597																																																	0													81.0	68.0	73.0					16																	74753017		2198	4300	6498	SO:0001583	missense	0			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.655T>C	16.37:g.74753017A>G	ENSP00000219368:p.Phe219Leu		B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.F219L	ENST00000219368.3	37	c.655	CCDS10911.1	16	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477393	0.63849	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.83335	-1.71;-1.71	5.57	4.45	0.53987	Fatty acid hydroxylase (1);	0.091506	0.85682	D	0.000000	D	0.87645	0.6229	M	0.64676	1.99	0.80722	D	1	D	0.69078	0.997	D	0.65140	0.932	D	0.85779	0.1360	10	0.37606	T	0.19	-6.8709	11.76	0.51896	0.8679:0.0:0.0:0.1321	.	219	Q7L5A8	FA2H_HUMAN	L	219;6	ENSP00000219368:F219L;ENSP00000442334:F6L	ENSP00000219368:F219L	F	-	1	0	FA2H	73310518	1.000000	0.71417	0.991000	0.47740	0.322000	0.28314	7.413000	0.80104	0.905000	0.36596	0.459000	0.35465	TTC	FA2H	-	pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase	ENSG00000103089		0.597	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FA2H	HGNC	protein_coding	OTTHUMT00000269015.2		0.00	52	0	A	NM_024306		74753017	-1			no_errors	ENST00000219368	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	G
FAF1	11124	genome.wustl.edu	37	1	51001111	51001111	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:51001111T>A	ENST00000396153.2	-	15	1875	c.1424A>T	c.(1423-1425)gAg>gTg	p.E475V	FAF1_ENST00000371778.4_Missense_Mutation_p.E475V|FAF1_ENST00000545823.1_Missense_Mutation_p.E233V	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	475					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CATCATTAACTCATCTACTGT	0.323																																																	1	Whole gene deletion(1)	thyroid(1)											147.0	140.0	142.0					1																	51001111		2203	4300	6503	SO:0001583	missense	0			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1424A>T	1.37:g.51001111T>A	ENSP00000379457:p.Glu475Val		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.E475V	ENST00000396153.2	37	c.1424	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.660903	0.88154	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	T;T;T	0.51574	0.7;0.7;0.7	5.52	5.52	0.82312	UAS (1);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.73962	2.25	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.70227	0.925;0.968	T	0.69049	-0.5248	10	0.44086	T	0.13	-21.2738	15.6364	0.76958	0.0:0.0:0.0:1.0	.	233;475	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	V	475;475;233;315;323	ENSP00000379457:E475V;ENSP00000360843:E475V;ENSP00000438870:E233V	ENSP00000360843:E475V	E	-	2	0	FAF1	50773699	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.671000	0.83941	2.089000	0.63090	0.482000	0.46254	GAG	FAF1	-	smart_UAS	ENSG00000185104		0.323	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	-	0.00	110	0	T	NM_007051		51001111	-1	tier1	-	no_errors	ENST00000371778	ensembl	human	known	74_37	missense	35.94	41	23	SNP	1.000	A
FAF1	11124	genome.wustl.edu	37	1	51001111	51001111	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:51001111T>A	ENST00000396153.2	-	15	1875	c.1424A>T	c.(1423-1425)gAg>gTg	p.E475V	FAF1_ENST00000371778.4_Missense_Mutation_p.E475V|FAF1_ENST00000545823.1_Missense_Mutation_p.E233V	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	475					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CATCATTAACTCATCTACTGT	0.323																																																	1	Whole gene deletion(1)	thyroid(1)											147.0	140.0	142.0					1																	51001111		2203	4300	6503	SO:0001583	missense	0			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1424A>T	1.37:g.51001111T>A	ENSP00000379457:p.Glu475Val		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.E475V	ENST00000396153.2	37	c.1424	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.660903	0.88154	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	T;T;T	0.51574	0.7;0.7;0.7	5.52	5.52	0.82312	UAS (1);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.73962	2.25	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.70227	0.925;0.968	T	0.69049	-0.5248	10	0.44086	T	0.13	-21.2738	15.6364	0.76958	0.0:0.0:0.0:1.0	.	233;475	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	V	475;475;233;315;323	ENSP00000379457:E475V;ENSP00000360843:E475V;ENSP00000438870:E233V	ENSP00000360843:E475V	E	-	2	0	FAF1	50773699	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.671000	0.83941	2.089000	0.63090	0.482000	0.46254	GAG	FAF1	-	smart_UAS	ENSG00000185104		0.323	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	-	0.00	66	0	T	NM_007051		51001111	-1	tier1	-	no_errors	ENST00000371778	ensembl	human	known	74_37	missense	35.94	41	23	SNP	1.000	A
FAM131A	131408	genome.wustl.edu	37	3	184056194	184056194	+	5'Flank	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:184056194G>A	ENST00000310585.4	+	0	0				FAM131A_ENST00000383847.2_Nonsense_Mutation_p.W36*|FAM131A_ENST00000450976.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000497070.1_3'UTR|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000453072.1_5'Flank			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A							extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCCCGCTTGGGCTGTGGAGT	0.582																																																	0													70.0	75.0	73.0					3																	184056194		692	1591	2283	SO:0001631	upstream_gene_variant	0			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206		3.37:g.184056194G>A	Exception_encountered		D3DNT6|G5E9B1|Q8TA84	Nonsense_Mutation	SNP	NULL	p.W36*	ENST00000310585.4	37	c.108		3	.	.	.	.	.	.	.	.	.	.	G	35	5.456963	0.96223	.	.	ENSG00000175182	ENST00000383847	.	.	.	4.32	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.9697	0.30119	0.1175:0.0:0.8825:0.0	.	.	.	.	X	36	.	ENSP00000373360:W36X	W	+	3	0	FAM131A	185538888	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.591000	0.53986	0.794000	0.33899	0.313000	0.20887	TGG	FAM131A	-	NULL	ENSG00000175182		0.582	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	-	0.00	65	0	G	NM_144635		184056194	+1	tier1	-	no_errors	ENST00000383847	ensembl	human	known	74_37	nonsense	7.14	51	4	SNP	1.000	A
FAM131A	131408	genome.wustl.edu	37	3	184056194	184056194	+	5'Flank	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:184056194G>A	ENST00000310585.4	+	0	0				FAM131A_ENST00000383847.2_Nonsense_Mutation_p.W36*|FAM131A_ENST00000450976.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000497070.1_3'UTR|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000453072.1_5'Flank			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A							extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCCCGCTTGGGCTGTGGAGT	0.582																																																	0													70.0	75.0	73.0					3																	184056194		692	1591	2283	SO:0001631	upstream_gene_variant	0			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206		3.37:g.184056194G>A	Exception_encountered		D3DNT6|G5E9B1|Q8TA84	Nonsense_Mutation	SNP	NULL	p.W36*	ENST00000310585.4	37	c.108		3	.	.	.	.	.	.	.	.	.	.	G	35	5.456963	0.96223	.	.	ENSG00000175182	ENST00000383847	.	.	.	4.32	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.9697	0.30119	0.1175:0.0:0.8825:0.0	.	.	.	.	X	36	.	ENSP00000373360:W36X	W	+	3	0	FAM131A	185538888	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.591000	0.53986	0.794000	0.33899	0.313000	0.20887	TGG	FAM131A	-	NULL	ENSG00000175182		0.582	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	-	0.00	82	0	G	NM_144635		184056194	+1	tier1	-	no_errors	ENST00000383847	ensembl	human	known	74_37	nonsense	7.14	51	4	SNP	1.000	A
FAM160A2	84067	genome.wustl.edu	37	11	6243800	6243800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:6243800C>A	ENST00000449352.2	-	6	1326	c.1063G>T	c.(1063-1065)Gaa>Taa	p.E355*	FAM160A2_ENST00000265978.4_Nonsense_Mutation_p.E355*|FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E355*			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	355					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAAAAGTTCCAGATAGGCG	0.527																																																	0													137.0	115.0	122.0					11																	6243800		2201	4296	6497	SO:0001587	stop_gained	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1063G>T	11.37:g.6243800C>A	ENSP00000416918:p.Glu355*		Q9C0A4|Q9H0N3|Q9H624	Nonsense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.E355*	ENST00000449352.2	37	c.1063	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	41	8.721659	0.98929	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	.	.	.	5.25	5.25	0.73442	.	0.097562	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-33.8008	18.1868	0.89796	0.0:1.0:0.0:0.0	.	.	.	.	X	355;280;355;355	.	ENSP00000265978:E355X	E	-	1	0	FAM160A2	6200376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.685000	0.84117	2.620000	0.88729	0.561000	0.74099	GAA	FAM160A2	-	pfam_RetinoicA-induced_16-like	ENSG00000051009		0.527	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	-	0.00	77	0	C	NM_032127		6243800	-1	tier1	-	no_errors	ENST00000265978	ensembl	human	known	74_37	nonsense	21.67	47	13	SNP	1.000	A
FAM160A2	84067	genome.wustl.edu	37	11	6243800	6243800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:6243800C>A	ENST00000449352.2	-	6	1326	c.1063G>T	c.(1063-1065)Gaa>Taa	p.E355*	FAM160A2_ENST00000265978.4_Nonsense_Mutation_p.E355*|FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E355*			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	355					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAAAAGTTCCAGATAGGCG	0.527																																																	0													137.0	115.0	122.0					11																	6243800		2201	4296	6497	SO:0001587	stop_gained	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1063G>T	11.37:g.6243800C>A	ENSP00000416918:p.Glu355*		Q9C0A4|Q9H0N3|Q9H624	Nonsense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.E355*	ENST00000449352.2	37	c.1063	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	41	8.721659	0.98929	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	.	.	.	5.25	5.25	0.73442	.	0.097562	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-33.8008	18.1868	0.89796	0.0:1.0:0.0:0.0	.	.	.	.	X	355;280;355;355	.	ENSP00000265978:E355X	E	-	1	0	FAM160A2	6200376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.685000	0.84117	2.620000	0.88729	0.561000	0.74099	GAA	FAM160A2	-	pfam_RetinoicA-induced_16-like	ENSG00000051009		0.527	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	-	0.00	79	0	C	NM_032127		6243800	-1	tier1	-	no_errors	ENST00000265978	ensembl	human	known	74_37	nonsense	21.67	47	13	SNP	1.000	A
FAM189A1	23359	genome.wustl.edu	37	15	29415829	29415829	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:29415829A>G	ENST00000261275.4	-	11	1332	c.1333T>C	c.(1333-1335)Tgt>Cgt	p.C445R		NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1	445						integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						TGGGCCCGACAGGCAGCCGTG	0.527																																																	0													103.0	102.0	102.0					15																	29415829		692	1591	2283	SO:0001583	missense	0				CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.1333T>C	15.37:g.29415829A>G	ENSP00000261275:p.Cys445Arg		A0PK09	Missense_Mutation	SNP	pfam_CD20-like	p.C445R	ENST00000261275.4	37	c.1333	CCDS45198.1	15	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972754	0.34848	.	.	ENSG00000104059	ENST00000261275	T	0.02916	4.11	5.37	4.23	0.50019	.	1.587210	0.03433	N	0.208106	T	0.05960	0.0155	M	0.61703	1.905	0.53688	D	0.999974	B	0.09022	0.002	B	0.04013	0.001	T	0.40308	-0.9570	10	0.28530	T	0.3	-15.6136	9.2708	0.37670	0.9097:0.0:0.0903:0.0	.	445	O60320	F1891_HUMAN	R	445	ENSP00000261275:C445R	ENSP00000261275:C445R	C	-	1	0	FAM189A1	27203121	0.996000	0.38824	0.675000	0.29917	0.466000	0.32739	1.955000	0.40372	0.864000	0.35578	0.533000	0.62120	TGT	FAM189A1	-	NULL	ENSG00000104059		0.527	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A1	HGNC	protein_coding	OTTHUMT00000417254.1	-	0.00	69	0	A	NM_015307		29415829	-1	tier1	-	no_errors	ENST00000261275	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.978	G
FAM189A1	23359	genome.wustl.edu	37	15	29415829	29415829	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:29415829A>G	ENST00000261275.4	-	11	1332	c.1333T>C	c.(1333-1335)Tgt>Cgt	p.C445R		NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1	445						integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						TGGGCCCGACAGGCAGCCGTG	0.527																																																	0													103.0	102.0	102.0					15																	29415829		692	1591	2283	SO:0001583	missense	0				CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.1333T>C	15.37:g.29415829A>G	ENSP00000261275:p.Cys445Arg		A0PK09	Missense_Mutation	SNP	pfam_CD20-like	p.C445R	ENST00000261275.4	37	c.1333	CCDS45198.1	15	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972754	0.34848	.	.	ENSG00000104059	ENST00000261275	T	0.02916	4.11	5.37	4.23	0.50019	.	1.587210	0.03433	N	0.208106	T	0.05960	0.0155	M	0.61703	1.905	0.53688	D	0.999974	B	0.09022	0.002	B	0.04013	0.001	T	0.40308	-0.9570	10	0.28530	T	0.3	-15.6136	9.2708	0.37670	0.9097:0.0:0.0903:0.0	.	445	O60320	F1891_HUMAN	R	445	ENSP00000261275:C445R	ENSP00000261275:C445R	C	-	1	0	FAM189A1	27203121	0.996000	0.38824	0.675000	0.29917	0.466000	0.32739	1.955000	0.40372	0.864000	0.35578	0.533000	0.62120	TGT	FAM189A1	-	NULL	ENSG00000104059		0.527	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A1	HGNC	protein_coding	OTTHUMT00000417254.1	-	0.00	83	0	A	NM_015307		29415829	-1	tier1	-	no_errors	ENST00000261275	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.978	G
FAM212B	55924	genome.wustl.edu	37	1	112281959	112281959	+	5'UTR	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:112281959C>A	ENST00000357260.5	-	0	87				RP4-773A18.4_ENST00000524935.1_RNA|FAM212B_ENST00000534365.1_5'UTR|RP4-773A18.4_ENST00000430373.1_RNA|FAM212B_ENST00000444059.2_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B											cervix(1)|endometrium(1)	2						CCCGCCCCTGCGCCCGTAGCG	0.726																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.-95G>T	1.37:g.112281959C>A			B3KP38|B4DF94|Q9NTI6	RNA	SNP	-	NULL	ENST00000357260.5	37	NULL	CCDS841.1	1																																																																																			FAM212B	-	-	ENSG00000197852		0.726	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM212B	HGNC	protein_coding	OTTHUMT00000033060.2	-	0.00	22	0	C	NM_019099		112281959	-1	tier1	-	no_errors	ENST00000527570	ensembl	human	putative	74_37	rna	28.57	10	4	SNP	0.074	A
FAM212B	55924	genome.wustl.edu	37	1	112281959	112281959	+	5'UTR	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:112281959C>A	ENST00000357260.5	-	0	87				RP4-773A18.4_ENST00000524935.1_RNA|FAM212B_ENST00000534365.1_5'UTR|RP4-773A18.4_ENST00000430373.1_RNA|FAM212B_ENST00000444059.2_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B											cervix(1)|endometrium(1)	2						CCCGCCCCTGCGCCCGTAGCG	0.726																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.-95G>T	1.37:g.112281959C>A			B3KP38|B4DF94|Q9NTI6	RNA	SNP	-	NULL	ENST00000357260.5	37	NULL	CCDS841.1	1																																																																																			FAM212B	-	-	ENSG00000197852		0.726	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM212B	HGNC	protein_coding	OTTHUMT00000033060.2	-	0.00	23	0	C	NM_019099		112281959	-1	tier1	-	no_errors	ENST00000527570	ensembl	human	putative	74_37	rna	28.57	10	4	SNP	0.074	A
FAM230A	653203	genome.wustl.edu	37	22	20710061	20710061	+	Missense_Mutation	SNP	G	G	C	rs529499572	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:20710061G>C	ENST00000434783.3	+	8	1977	c.1793G>C	c.(1792-1794)aGg>aCg	p.R598T	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		ACGCCGTCCAGGGCGTCGCTA	0.692													N|||	5	0.000998403	0.0038	0.0	5008	,	,		14918	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.1793G>C	22.37:g.20710061G>C	ENSP00000463576:p.Arg598Thr			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.R598T	ENST00000434783.3	37	c.1793		22																																																																																			FAM230A	-	superfamily_Kinase-like_dom	ENSG00000188280		0.692	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	113	0	G			20710061	+1	tier1	-	no_errors	ENST00000434783	ensembl	human	known	74_37	missense	14.14	85	14	SNP	0.106	C
FAM230A	653203	genome.wustl.edu	37	22	20710061	20710061	+	Missense_Mutation	SNP	G	G	C	rs529499572	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:20710061G>C	ENST00000434783.3	+	8	1977	c.1793G>C	c.(1792-1794)aGg>aCg	p.R598T	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		ACGCCGTCCAGGGCGTCGCTA	0.692													N|||	5	0.000998403	0.0038	0.0	5008	,	,		14918	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.1793G>C	22.37:g.20710061G>C	ENSP00000463576:p.Arg598Thr			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.R598T	ENST00000434783.3	37	c.1793		22																																																																																			FAM230A	-	superfamily_Kinase-like_dom	ENSG00000188280		0.692	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	123	0	G			20710061	+1	tier1	-	no_errors	ENST00000434783	ensembl	human	known	74_37	missense	14.14	85	14	SNP	0.106	C
FAM65B	9750	genome.wustl.edu	37	6	24839446	24839446	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:24839446T>C	ENST00000259698.4	-	15	2150	c.1975A>G	c.(1975-1977)Agt>Ggt	p.S659G	FAM65B_ENST00000538035.1_Missense_Mutation_p.S638G|AL512428.1_ENST00000583229.1_RNA|FAM65B_ENST00000473070.1_5'Flank	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	659					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCTAAAGCACTTTCAACTGTG	0.468																																																	0													86.0	76.0	79.0					6																	24839446		692	1591	2283	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1975A>G	6.37:g.24839446T>C	ENSP00000259698:p.Ser659Gly		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S659G	ENST00000259698.4	37	c.1975	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085297	0.76642	.	.	ENSG00000111913	ENST00000259698;ENST00000538035	T;T	0.42131	0.98;0.98	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.58101	1.795	0.80722	D	1	P;P	0.42692	0.787;0.787	P;B	0.46585	0.521;0.397	T	0.19224	-1.0312	10	0.41790	T	0.15	-19.3204	16.2879	0.82732	0.0:0.0:0.0:1.0	.	638;659	F5GX51;Q9Y4F9	.;FA65B_HUMAN	G	659;638	ENSP00000259698:S659G;ENSP00000441138:S638G	ENSP00000259698:S659G	S	-	1	0	FAM65B	24947425	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.353000	0.79414	2.242000	0.73789	0.533000	0.62120	AGT	FAM65B	-	NULL	ENSG00000111913		0.468	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	-	0.00	55	0	T			24839446	-1	tier1	-	no_errors	ENST00000259698	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	C
FAM65B	9750	genome.wustl.edu	37	6	24839446	24839446	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:24839446T>C	ENST00000259698.4	-	15	2150	c.1975A>G	c.(1975-1977)Agt>Ggt	p.S659G	FAM65B_ENST00000538035.1_Missense_Mutation_p.S638G|AL512428.1_ENST00000583229.1_RNA|FAM65B_ENST00000473070.1_5'Flank	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	659					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCTAAAGCACTTTCAACTGTG	0.468																																																	0													86.0	76.0	79.0					6																	24839446		692	1591	2283	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1975A>G	6.37:g.24839446T>C	ENSP00000259698:p.Ser659Gly		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S659G	ENST00000259698.4	37	c.1975	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085297	0.76642	.	.	ENSG00000111913	ENST00000259698;ENST00000538035	T;T	0.42131	0.98;0.98	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.58101	1.795	0.80722	D	1	P;P	0.42692	0.787;0.787	P;B	0.46585	0.521;0.397	T	0.19224	-1.0312	10	0.41790	T	0.15	-19.3204	16.2879	0.82732	0.0:0.0:0.0:1.0	.	638;659	F5GX51;Q9Y4F9	.;FA65B_HUMAN	G	659;638	ENSP00000259698:S659G;ENSP00000441138:S638G	ENSP00000259698:S659G	S	-	1	0	FAM65B	24947425	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.353000	0.79414	2.242000	0.73789	0.533000	0.62120	AGT	FAM65B	-	NULL	ENSG00000111913		0.468	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	-	0.00	81	0	T			24839446	-1	tier1	-	no_errors	ENST00000259698	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	C
FAM65C	140876	genome.wustl.edu	37	20	49203726	49203727	+	3'UTR	INS	-	-	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:49203726_49203727insA	ENST00000327979.2	-	0	3294_3295				FAM65C_ENST00000462842.1_5'UTR|MIR645_ENST00000385283.1_RNA|FAM65C_ENST00000535356.1_3'UTR|FAM65C_ENST00000045083.2_3'UTR			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C											endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGCAGCAGCAAAAAAAACGA	0.49																																																	0										28,3762		2,24,1869						-0.9	0.0			30	39,7899		0,39,3930	no	utr-3	FAM65C	NM_080829.2		2,63,5799	A1A1,A1R,RR		0.4913,0.7388,0.5713				67,11661				SO:0001624	3_prime_UTR_variant	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.*43->T	20.37:g.49203734_49203734dupA			Q5QPB6|Q9NQQ2	RNA	INS	-	NULL	ENST00000327979.2	37	NULL	CCDS13431.2	20																																																																																			FAM65C	-	-	ENSG00000042062		0.490	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1		0.00	24	0	-			49203727	-1	tier1		no_errors	ENST00000462842	ensembl	human	putative	74_37	rna	7.69	24	2	INS	0.000:0.000	A
FAM65C	140876	genome.wustl.edu	37	20	49203726	49203727	+	3'UTR	INS	-	-	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:49203726_49203727insA	ENST00000327979.2	-	0	3294_3295				FAM65C_ENST00000462842.1_5'UTR|MIR645_ENST00000385283.1_RNA|FAM65C_ENST00000535356.1_3'UTR|FAM65C_ENST00000045083.2_3'UTR			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C											endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGCAGCAGCAAAAAAAACGA	0.49																																																	0										28,3762		2,24,1869						-0.9	0.0			30	39,7899		0,39,3930	no	utr-3	FAM65C	NM_080829.2		2,63,5799	A1A1,A1R,RR		0.4913,0.7388,0.5713				67,11661				SO:0001624	3_prime_UTR_variant	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.*43->T	20.37:g.49203734_49203734dupA			Q5QPB6|Q9NQQ2	RNA	INS	-	NULL	ENST00000327979.2	37	NULL	CCDS13431.2	20																																																																																			FAM65C	-	-	ENSG00000042062		0.490	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1		0.00	33	0	-			49203727	-1	tier1		no_errors	ENST00000462842	ensembl	human	putative	74_37	rna	7.69	24	2	INS	0.000:0.000	A
FAM71F2	346653	genome.wustl.edu	37	7	128320107	128320107	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:128320107delC	ENST00000480462.1	+	4	744	c.638delC	c.(637-639)tccfs	p.S213fs	FAM71F2_ENST00000378704.3_Frame_Shift_Del_p.S204fs|FAM71F2_ENST00000477515.1_Frame_Shift_Del_p.P131fs			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	213										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CTCCTGTCATCCCCCCAGCCC	0.587																																																	0													26.0	28.0	27.0					7																	128320107		1934	4154	6088	SO:0001589	frameshift_variant	0			BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.638delC	7.37:g.128320107delC	ENSP00000420140:p.Ser213fs		Q0VGF6|Q0VGF7|Q86X39	Frame_Shift_Del	DEL	pfam_DUF3699	p.Q215fs	ENST00000480462.1	37	c.638	CCDS47701.1	7																																																																																			FAM71F2	-	NULL	ENSG00000205085		0.587	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FAM71F2	HGNC	protein_coding	OTTHUMT00000350537.1		0.00	61	0	C			128320107	+1	tier1		no_errors	ENST00000480462	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.232	-
FAM71F2	346653	genome.wustl.edu	37	7	128320107	128320107	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:128320107delC	ENST00000480462.1	+	4	744	c.638delC	c.(637-639)tccfs	p.S213fs	FAM71F2_ENST00000378704.3_Frame_Shift_Del_p.S204fs|FAM71F2_ENST00000477515.1_Frame_Shift_Del_p.P131fs			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	213										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CTCCTGTCATCCCCCCAGCCC	0.587																																																	0													26.0	28.0	27.0					7																	128320107		1934	4154	6088	SO:0001589	frameshift_variant	0			BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.638delC	7.37:g.128320107delC	ENSP00000420140:p.Ser213fs		Q0VGF6|Q0VGF7|Q86X39	Frame_Shift_Del	DEL	pfam_DUF3699	p.Q215fs	ENST00000480462.1	37	c.638	CCDS47701.1	7																																																																																			FAM71F2	-	NULL	ENSG00000205085		0.587	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FAM71F2	HGNC	protein_coding	OTTHUMT00000350537.1		0.00	71	0	C			128320107	+1	tier1		no_errors	ENST00000480462	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.232	-
FAM81A	145773	genome.wustl.edu	37	15	59799504	59799504	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:59799504T>G	ENST00000288228.5	+	5	693	c.506T>G	c.(505-507)cTt>cGt	p.L169R		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	169										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GCTGCCAAACTTATCTTGGAA	0.453																																																	0													46.0	43.0	44.0					15																	59799504		1852	4091	5943	SO:0001583	missense	0				CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.506T>G	15.37:g.59799504T>G	ENSP00000288228:p.Leu169Arg			Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.L169R	ENST00000288228.5	37	c.506	CCDS45269.1	15	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237473	0.58886	.	.	ENSG00000157470	ENST00000288228	T	0.28454	1.61	5.26	4.11	0.48088	.	0.112301	0.38217	N	0.001775	T	0.25606	0.0623	L	0.44542	1.39	0.39594	D	0.969626	P	0.44429	0.835	B	0.40066	0.318	T	0.04400	-1.0954	10	0.52906	T	0.07	-4.692	9.2091	0.37306	0.1615:0.0:0.0:0.8385	.	169	Q8TBF8	FA81A_HUMAN	R	169	ENSP00000288228:L169R	ENSP00000288228:L169R	L	+	2	0	FAM81A	57586796	0.299000	0.24426	0.339000	0.25562	0.991000	0.79684	2.656000	0.46716	0.814000	0.34374	0.524000	0.50904	CTT	FAM81A	-	NULL	ENSG00000157470		0.453	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81A	HGNC	protein_coding	OTTHUMT00000415876.1	-	0.00	46	0	T	NM_152450		59799504	+1	tier1	-	no_errors	ENST00000288228	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.815	G
FAM81A	145773	genome.wustl.edu	37	15	59799504	59799504	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:59799504T>G	ENST00000288228.5	+	5	693	c.506T>G	c.(505-507)cTt>cGt	p.L169R		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	169										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GCTGCCAAACTTATCTTGGAA	0.453																																																	0													46.0	43.0	44.0					15																	59799504		1852	4091	5943	SO:0001583	missense	0				CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.506T>G	15.37:g.59799504T>G	ENSP00000288228:p.Leu169Arg			Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.L169R	ENST00000288228.5	37	c.506	CCDS45269.1	15	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237473	0.58886	.	.	ENSG00000157470	ENST00000288228	T	0.28454	1.61	5.26	4.11	0.48088	.	0.112301	0.38217	N	0.001775	T	0.25606	0.0623	L	0.44542	1.39	0.39594	D	0.969626	P	0.44429	0.835	B	0.40066	0.318	T	0.04400	-1.0954	10	0.52906	T	0.07	-4.692	9.2091	0.37306	0.1615:0.0:0.0:0.8385	.	169	Q8TBF8	FA81A_HUMAN	R	169	ENSP00000288228:L169R	ENSP00000288228:L169R	L	+	2	0	FAM81A	57586796	0.299000	0.24426	0.339000	0.25562	0.991000	0.79684	2.656000	0.46716	0.814000	0.34374	0.524000	0.50904	CTT	FAM81A	-	NULL	ENSG00000157470		0.453	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81A	HGNC	protein_coding	OTTHUMT00000415876.1	-	0.00	76	0	T	NM_152450		59799504	+1	tier1	-	no_errors	ENST00000288228	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.815	G
FANCM	57697	genome.wustl.edu	37	14	45628400	45628400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:45628400C>T	ENST00000267430.5	+	9	1583	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.Q474*|FANCM_ENST00000556036.1_Nonsense_Mutation_p.Q500*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	500	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTCACAGCATCAGCCAATTAT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													61.0	59.0	60.0					14																	45628400		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1498C>T	14.37:g.45628400C>T	ENSP00000267430:p.Gln500*		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q500*	ENST00000267430.5	37	c.1498	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.304161	0.97458	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	.	.	.	5.39	4.49	0.54785	.	1.191400	0.05758	N	0.604451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	13.6702	0.62420	0.2801:0.7199:0.0:0.0	.	.	.	.	X	500;500;474;85	.	ENSP00000267430:Q500X	Q	+	1	0	FANCM	44698150	0.033000	0.19621	0.991000	0.47740	0.978000	0.69477	1.231000	0.32624	1.222000	0.43521	0.563000	0.77884	CAG	FANCM	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000187790		0.398	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0.00	111	0	C	XM_048128		45628400	+1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	nonsense	22.00	78	22	SNP	0.999	T
FANCM	57697	genome.wustl.edu	37	14	45628400	45628400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:45628400C>T	ENST00000267430.5	+	9	1583	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.Q474*|FANCM_ENST00000556036.1_Nonsense_Mutation_p.Q500*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	500	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTCACAGCATCAGCCAATTAT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													61.0	59.0	60.0					14																	45628400		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1498C>T	14.37:g.45628400C>T	ENSP00000267430:p.Gln500*		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q500*	ENST00000267430.5	37	c.1498	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.304161	0.97458	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	.	.	.	5.39	4.49	0.54785	.	1.191400	0.05758	N	0.604451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	13.6702	0.62420	0.2801:0.7199:0.0:0.0	.	.	.	.	X	500;500;474;85	.	ENSP00000267430:Q500X	Q	+	1	0	FANCM	44698150	0.033000	0.19621	0.991000	0.47740	0.978000	0.69477	1.231000	0.32624	1.222000	0.43521	0.563000	0.77884	CAG	FANCM	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000187790		0.398	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0.00	150	0	C	XM_048128		45628400	+1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	nonsense	22.00	78	22	SNP	0.999	T
FARP2	9855	genome.wustl.edu	37	2	242343251	242343251	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:242343251C>T	ENST00000264042.3	+	3	362	c.192C>T	c.(190-192)tgC>tgT	p.C64C	FARP2_ENST00000545004.1_Silent_p.C64C|FARP2_ENST00000373287.4_Silent_p.C64C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	64	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C64C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGCCTAAATGCGATGGCCAGG	0.413																																																	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)											109.0	102.0	104.0					2																	242343251		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.192C>T	2.37:g.242343251C>T			B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.C64	ENST00000264042.3	37	c.192	CCDS33424.1	2																																																																																			FARP2	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like	ENSG00000006607		0.413	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1		0.00	116	0	C			242343251	+1			no_errors	ENST00000264042	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.000	T
FAT1	2195	genome.wustl.edu	37	4	187541074	187541074	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:187541074G>C	ENST00000441802.2	-	10	6875	c.6666C>G	c.(6664-6666)gaC>gaG	p.D2222E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2222	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCTGAAAGGGTCTCCGTCTG	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													175.0	178.0	177.0					4																	187541074		2025	4177	6202	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6666C>G	4.37:g.187541074G>C	ENSP00000406229:p.Asp2222Glu			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.D2222E	ENST00000441802.2	37	c.6666	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	8.202	0.798383	0.16397	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.61980	0.06	5.05	-5.04	0.02964	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.62723	1.935	0.53005	D	0.999966	D	0.76494	0.999	D	0.70487	0.969	T	0.70303	-0.4909	10	0.31617	T	0.26	.	14.6389	0.68708	0.7284:0.0:0.2716:0.0	.	2222	Q14517	FAT1_HUMAN	E	2222;2224	ENSP00000406229:D2222E	ENSP00000260147:D2224E	D	-	3	2	FAT1	187778068	0.994000	0.37717	0.561000	0.28357	0.073000	0.16967	0.499000	0.22546	-1.081000	0.03105	-0.768000	0.03414	GAC	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0.00	39	0	G	NM_005245		187541074	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.858	C
FAT1	2195	genome.wustl.edu	37	4	187541074	187541074	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:187541074G>C	ENST00000441802.2	-	10	6875	c.6666C>G	c.(6664-6666)gaC>gaG	p.D2222E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2222	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCTGAAAGGGTCTCCGTCTG	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													175.0	178.0	177.0					4																	187541074		2025	4177	6202	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6666C>G	4.37:g.187541074G>C	ENSP00000406229:p.Asp2222Glu			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.D2222E	ENST00000441802.2	37	c.6666	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	8.202	0.798383	0.16397	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.61980	0.06	5.05	-5.04	0.02964	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.62723	1.935	0.53005	D	0.999966	D	0.76494	0.999	D	0.70487	0.969	T	0.70303	-0.4909	10	0.31617	T	0.26	.	14.6389	0.68708	0.7284:0.0:0.2716:0.0	.	2222	Q14517	FAT1_HUMAN	E	2222;2224	ENSP00000406229:D2222E	ENSP00000260147:D2224E	D	-	3	2	FAT1	187778068	0.994000	0.37717	0.561000	0.28357	0.073000	0.16967	0.499000	0.22546	-1.081000	0.03105	-0.768000	0.03414	GAC	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0.00	46	0	G	NM_005245		187541074	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.858	C
FAT2	2196	genome.wustl.edu	37	5	150922227	150922227	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:150922227C>A	ENST00000261800.5	-	9	8473	c.8461G>T	c.(8461-8463)Gcc>Tcc	p.A2821S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2821	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGTCAATGGCAGTCACTTGA	0.512																																																	0													112.0	102.0	105.0					5																	150922227		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8461G>T	5.37:g.150922227C>A	ENSP00000261800:p.Ala2821Ser		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A2821S	ENST00000261800.5	37	c.8461	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881184	0.72294	.	.	ENSG00000086570	ENST00000261800	T	0.61510	0.1	5.92	5.92	0.95590	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000007	D	0.85410	0.5690	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89231	0.3577	10	0.72032	D	0.01	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	2821	Q9NYQ8	FAT2_HUMAN	S	2821	ENSP00000261800:A2821S	ENSP00000261800:A2821S	A	-	1	0	FAT2	150902420	1.000000	0.71417	0.930000	0.37139	0.823000	0.46562	7.755000	0.85180	2.813000	0.96785	0.561000	0.74099	GCC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0.00	23	0	C	NM_001447		150922227	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.988	A
FAT2	2196	genome.wustl.edu	37	5	150922227	150922227	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:150922227C>A	ENST00000261800.5	-	9	8473	c.8461G>T	c.(8461-8463)Gcc>Tcc	p.A2821S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2821	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGTCAATGGCAGTCACTTGA	0.512																																																	0													112.0	102.0	105.0					5																	150922227		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8461G>T	5.37:g.150922227C>A	ENSP00000261800:p.Ala2821Ser		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A2821S	ENST00000261800.5	37	c.8461	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881184	0.72294	.	.	ENSG00000086570	ENST00000261800	T	0.61510	0.1	5.92	5.92	0.95590	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000007	D	0.85410	0.5690	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89231	0.3577	10	0.72032	D	0.01	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	2821	Q9NYQ8	FAT2_HUMAN	S	2821	ENSP00000261800:A2821S	ENSP00000261800:A2821S	A	-	1	0	FAT2	150902420	1.000000	0.71417	0.930000	0.37139	0.823000	0.46562	7.755000	0.85180	2.813000	0.96785	0.561000	0.74099	GCC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0.00	24	0	C	NM_001447		150922227	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.988	A
FAT3	120114	genome.wustl.edu	37	11	92570848	92570848	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:92570848T>G	ENST00000298047.6	+	16	10261	c.10244T>G	c.(10243-10245)cTt>cGt	p.L3415R	FAT3_ENST00000409404.2_Missense_Mutation_p.L3415R|FAT3_ENST00000525166.1_Missense_Mutation_p.L3265R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3415	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACTCTCTGCTTGTCCAGGCC	0.483										TCGA Ovarian(4;0.039)																																							0													116.0	117.0	117.0					11																	92570848		1976	4163	6139	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10244T>G	11.37:g.92570848T>G	ENSP00000298047:p.Leu3415Arg		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L3415R	ENST00000298047.6	37	c.10244		11	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903550	0.33628	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01787	4.64;4.64;4.64	4.79	4.79	0.61399	.	.	.	.	.	T	0.01661	0.0053	N	0.11000	0.08	0.80722	D	1	P	0.44195	0.828	P	0.44518	0.452	T	0.75448	-0.3314	9	0.14252	T	0.57	.	14.8216	0.70077	0.0:0.0:0.0:1.0	.	3415	Q8TDW7-3	.	R	3415;3415;3265	ENSP00000298047:L3415R;ENSP00000387040:L3415R;ENSP00000432586:L3265R	ENSP00000298047:L3415R	L	+	2	0	FAT3	92210496	0.312000	0.24545	0.919000	0.36401	0.898000	0.52572	3.559000	0.53756	2.141000	0.66446	0.528000	0.53228	CTT	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.483	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	63	0	T	NM_001008781		92570848	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	13.73	44	7	SNP	0.787	G
FAT3	120114	genome.wustl.edu	37	11	92570848	92570848	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:92570848T>G	ENST00000298047.6	+	16	10261	c.10244T>G	c.(10243-10245)cTt>cGt	p.L3415R	FAT3_ENST00000409404.2_Missense_Mutation_p.L3415R|FAT3_ENST00000525166.1_Missense_Mutation_p.L3265R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3415	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACTCTCTGCTTGTCCAGGCC	0.483										TCGA Ovarian(4;0.039)																																							0													116.0	117.0	117.0					11																	92570848		1976	4163	6139	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10244T>G	11.37:g.92570848T>G	ENSP00000298047:p.Leu3415Arg		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L3415R	ENST00000298047.6	37	c.10244		11	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903550	0.33628	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01787	4.64;4.64;4.64	4.79	4.79	0.61399	.	.	.	.	.	T	0.01661	0.0053	N	0.11000	0.08	0.80722	D	1	P	0.44195	0.828	P	0.44518	0.452	T	0.75448	-0.3314	9	0.14252	T	0.57	.	14.8216	0.70077	0.0:0.0:0.0:1.0	.	3415	Q8TDW7-3	.	R	3415;3415;3265	ENSP00000298047:L3415R;ENSP00000387040:L3415R;ENSP00000432586:L3265R	ENSP00000298047:L3415R	L	+	2	0	FAT3	92210496	0.312000	0.24545	0.919000	0.36401	0.898000	0.52572	3.559000	0.53756	2.141000	0.66446	0.528000	0.53228	CTT	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.483	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	72	0	T	NM_001008781		92570848	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	13.73	44	7	SNP	0.787	G
FBRSL1	57666	genome.wustl.edu	37	12	133151044	133151044	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:133151044C>T	ENST00000434748.2	+	12	2744	c.1724C>T	c.(1723-1725)gCa>gTa	p.A575V	FBRSL1_ENST00000261673.6_Missense_Mutation_p.A502V	NM_001142641.1	NP_001136113.1	Q9HCM7	FBSL_HUMAN	fibrosin-like 1	575							poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(1)|stomach(1)	4						GTGGGGGTGGCACCAGCCCCA	0.672																																																	0													31.0	37.0	35.0					12																	133151044		692	1591	2283	SO:0001583	missense	0				CCDS45010.1	12q24.33	2008-12-09			ENSG00000112787	ENSG00000112787			29308	protein-coding gene	gene with protein product						10997877	Standard	NM_001142641		Approved	KIAA1545	uc001ukf.3	Q9HCM7	OTTHUMG00000167991	ENST00000434748.2:c.1724C>T	12.37:g.133151044C>T	ENSP00000396160:p.Ala575Val		Q86XQ1	Missense_Mutation	SNP	prints_AUTS2	p.A575V	ENST00000434748.2	37	c.1724	CCDS45010.1	12	.	.	.	.	.	.	.	.	.	.	C	1.663	-0.510900	0.04231	.	.	ENSG00000112787	ENST00000434748;ENST00000261673	T;T	0.30981	1.51;1.51	3.59	-7.19	0.01500	.	.	.	.	.	T	0.12732	0.0309	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29243	-1.0018	9	0.15066	T	0.55	2.5432	7.2928	0.26376	0.104:0.56:0.2097:0.1264	.	575	Q9HCM7	FBSL_HUMAN	V	575;502	ENSP00000396160:A575V;ENSP00000261673:A502V	ENSP00000261673:A502V	A	+	2	0	FBRSL1	131661117	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.397000	0.00581	-2.763000	0.00121	GCA	FBRSL1	-	NULL	ENSG00000112787		0.672	FBRSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBRSL1	HGNC	protein_coding	OTTHUMT00000397404.2	-	0.00	51	0	C			133151044	+1	tier1	-	no_errors	ENST00000434748	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.000	T
FBRSL1	57666	genome.wustl.edu	37	12	133151044	133151044	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:133151044C>T	ENST00000434748.2	+	12	2744	c.1724C>T	c.(1723-1725)gCa>gTa	p.A575V	FBRSL1_ENST00000261673.6_Missense_Mutation_p.A502V	NM_001142641.1	NP_001136113.1	Q9HCM7	FBSL_HUMAN	fibrosin-like 1	575							poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(1)|stomach(1)	4						GTGGGGGTGGCACCAGCCCCA	0.672																																																	0													31.0	37.0	35.0					12																	133151044		692	1591	2283	SO:0001583	missense	0				CCDS45010.1	12q24.33	2008-12-09			ENSG00000112787	ENSG00000112787			29308	protein-coding gene	gene with protein product						10997877	Standard	NM_001142641		Approved	KIAA1545	uc001ukf.3	Q9HCM7	OTTHUMG00000167991	ENST00000434748.2:c.1724C>T	12.37:g.133151044C>T	ENSP00000396160:p.Ala575Val		Q86XQ1	Missense_Mutation	SNP	prints_AUTS2	p.A575V	ENST00000434748.2	37	c.1724	CCDS45010.1	12	.	.	.	.	.	.	.	.	.	.	C	1.663	-0.510900	0.04231	.	.	ENSG00000112787	ENST00000434748;ENST00000261673	T;T	0.30981	1.51;1.51	3.59	-7.19	0.01500	.	.	.	.	.	T	0.12732	0.0309	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29243	-1.0018	9	0.15066	T	0.55	2.5432	7.2928	0.26376	0.104:0.56:0.2097:0.1264	.	575	Q9HCM7	FBSL_HUMAN	V	575;502	ENSP00000396160:A575V;ENSP00000261673:A502V	ENSP00000261673:A502V	A	+	2	0	FBRSL1	131661117	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.397000	0.00581	-2.763000	0.00121	GCA	FBRSL1	-	NULL	ENSG00000112787		0.672	FBRSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBRSL1	HGNC	protein_coding	OTTHUMT00000397404.2	-	0.00	66	0	C			133151044	+1	tier1	-	no_errors	ENST00000434748	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.000	T
FBXL17	64839	genome.wustl.edu	37	5	107703648	107703648	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:107703648delA	ENST00000542267.1	-	2	1406	c.1000delT	c.(1000-1002)tccfs	p.S334fs	FBXL17_ENST00000359660.5_5'UTR|FBXL17_ENST00000496714.1_5'UTR	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	334	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GACAAATTGGAAAATATCTGT	0.363																																																	0													101.0	80.0	86.0					5																	107703648		692	1591	2283	SO:0001589	frameshift_variant	0			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1000delT	5.37:g.107703648delA	ENSP00000437464:p.Ser334fs		A1A4E3	Frame_Shift_Del	DEL	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.S334fs	ENST00000542267.1	37	c.1000	CCDS54886.1	5																																																																																			FBXL17	-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	ENSG00000145743		0.363	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL17	HGNC	protein_coding			0.00	75	0	A			107703648	-1	tier1		no_errors	ENST00000542267	ensembl	human	known	74_37	frame_shift_del	15.38	33	6	DEL	1.000	-
FBXO15	201456	genome.wustl.edu	37	18	71740727	71740727	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:71740727T>A	ENST00000419743.2	-	10	1581	c.1502A>T	c.(1501-1503)aAa>aTa	p.K501I	FBXO15_ENST00000269500.5_Missense_Mutation_p.K425I|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	501						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATGGTTGATTTTTGCGATACT	0.398																																																	0													163.0	161.0	162.0					18																	71740727		2203	4300	6503	SO:0001583	missense	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1502A>T	18.37:g.71740727T>A	ENSP00000393154:p.Lys501Ile		B3KST3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.K501I	ENST00000419743.2	37	c.1502	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	t	15.65	2.897066	0.52121	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.52754	0.65;0.65	5.9	4.75	0.60458	.	0.043469	0.85682	D	0.000000	T	0.65873	0.2733	M	0.70275	2.135	0.48236	D	0.99961	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.68530	-0.5384	10	0.87932	D	0	-15.7255	11.6932	0.51527	0.0:0.0686:0.0:0.9314	.	501;425	B3KST3;Q8NCQ5	.;FBX15_HUMAN	I	425;501	ENSP00000269500:K425I;ENSP00000393154:K501I	ENSP00000269500:K425I	K	-	2	0	FBXO15	69891707	1.000000	0.71417	0.022000	0.16811	0.218000	0.24690	4.156000	0.58138	1.077000	0.40990	0.529000	0.55759	AAA	FBXO15	-	NULL	ENSG00000141665		0.398	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	-	0.00	63	0	T	NM_152676		71740727	-1	tier1	-	no_errors	ENST00000419743	ensembl	human	known	74_37	missense	54.55	20	24	SNP	0.873	A
FBXO15	201456	genome.wustl.edu	37	18	71740727	71740727	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:71740727T>A	ENST00000419743.2	-	10	1581	c.1502A>T	c.(1501-1503)aAa>aTa	p.K501I	FBXO15_ENST00000269500.5_Missense_Mutation_p.K425I|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	501						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATGGTTGATTTTTGCGATACT	0.398																																																	0													163.0	161.0	162.0					18																	71740727		2203	4300	6503	SO:0001583	missense	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1502A>T	18.37:g.71740727T>A	ENSP00000393154:p.Lys501Ile		B3KST3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.K501I	ENST00000419743.2	37	c.1502	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	t	15.65	2.897066	0.52121	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.52754	0.65;0.65	5.9	4.75	0.60458	.	0.043469	0.85682	D	0.000000	T	0.65873	0.2733	M	0.70275	2.135	0.48236	D	0.99961	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.68530	-0.5384	10	0.87932	D	0	-15.7255	11.6932	0.51527	0.0:0.0686:0.0:0.9314	.	501;425	B3KST3;Q8NCQ5	.;FBX15_HUMAN	I	425;501	ENSP00000269500:K425I;ENSP00000393154:K501I	ENSP00000269500:K425I	K	-	2	0	FBXO15	69891707	1.000000	0.71417	0.022000	0.16811	0.218000	0.24690	4.156000	0.58138	1.077000	0.40990	0.529000	0.55759	AAA	FBXO15	-	NULL	ENSG00000141665		0.398	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	-	0.00	82	0	T	NM_152676		71740727	-1	tier1	-	no_errors	ENST00000419743	ensembl	human	known	74_37	missense	54.55	20	24	SNP	0.873	A
FCGBP	8857	genome.wustl.edu	37	19	40357618	40357618	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:40357618C>T	ENST00000221347.6	-	34	15702	c.15695G>A	c.(15694-15696)cGt>cAt	p.R5232H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5232						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGAGACCACGGGTGGCCCA	0.627																																																	0													91.0	71.0	78.0					19																	40357618		2203	4300	6503	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15695G>A	19.37:g.40357618C>T	ENSP00000221347:p.Arg5232His		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.R5232H	ENST00000221347.6	37	c.15695	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790734	0.31685	.	.	ENSG00000090920	ENST00000221347	T	0.18960	2.18	4.45	-8.91	0.00778	Follistatin-like, N-terminal (1);von Willebrand factor, type D domain (1);	2.501090	0.02276	U	0.068887	T	0.12092	0.0294	L	0.36672	1.1	0.09310	N	1	B	0.25390	0.125	B	0.17722	0.019	T	0.12941	-1.0528	10	0.31617	T	0.26	.	2.977	0.05941	0.1102:0.4582:0.2474:0.1841	.	5232	Q9Y6R7	FCGBP_HUMAN	H	5232	ENSP00000221347:R5232H	ENSP00000221347:R5232H	R	-	2	0	FCGBP	45049458	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-3.701000	0.00389	-1.405000	0.02048	0.655000	0.94253	CGT	FCGBP	-	smart_VWC_out,smart_Fol_N,smart_VWF_type-D	ENSG00000090920		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0.00	47	0	C	NM_003890		40357618	-1			no_errors	ENST00000221347	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.000	T
FEM1B	10116	genome.wustl.edu	37	15	68582040	68582040	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:68582040A>G	ENST00000306917.4	+	2	959	c.344A>G	c.(343-345)aAc>aGc	p.N115S		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	115					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GCCAACGTGAACCATACCACA	0.463																																																	0													92.0	77.0	82.0					15																	68582040		2200	4298	6498	SO:0001583	missense	0				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.344A>G	15.37:g.68582040A>G	ENSP00000307298:p.Asn115Ser		O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N115S	ENST00000306917.4	37	c.344	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621512	0.66787	.	.	ENSG00000169018	ENST00000306917	T	0.59772	0.24	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78201	-0.2296	10	0.87932	D	0	-6.0222	15.0888	0.72177	1.0:0.0:0.0:0.0	.	115	Q9UK73	FEM1B_HUMAN	S	115	ENSP00000307298:N115S	ENSP00000307298:N115S	N	+	2	0	FEM1B	66369094	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.309000	0.96252	2.149000	0.67028	0.454000	0.30748	AAC	FEM1B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000169018		0.463	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	-	0.00	51	0	A			68582040	+1	tier1	-	no_errors	ENST00000306917	ensembl	human	known	74_37	missense	30.00	35	15	SNP	1.000	G
FEM1B	10116	genome.wustl.edu	37	15	68582040	68582040	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:68582040A>G	ENST00000306917.4	+	2	959	c.344A>G	c.(343-345)aAc>aGc	p.N115S		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	115					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GCCAACGTGAACCATACCACA	0.463																																																	0													92.0	77.0	82.0					15																	68582040		2200	4298	6498	SO:0001583	missense	0				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.344A>G	15.37:g.68582040A>G	ENSP00000307298:p.Asn115Ser		O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N115S	ENST00000306917.4	37	c.344	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621512	0.66787	.	.	ENSG00000169018	ENST00000306917	T	0.59772	0.24	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78201	-0.2296	10	0.87932	D	0	-6.0222	15.0888	0.72177	1.0:0.0:0.0:0.0	.	115	Q9UK73	FEM1B_HUMAN	S	115	ENSP00000307298:N115S	ENSP00000307298:N115S	N	+	2	0	FEM1B	66369094	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.309000	0.96252	2.149000	0.67028	0.454000	0.30748	AAC	FEM1B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000169018		0.463	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	-	0.00	94	0	A			68582040	+1	tier1	-	no_errors	ENST00000306917	ensembl	human	known	74_37	missense	30.00	35	15	SNP	1.000	G
FHIT	2272	genome.wustl.edu	37	3	59999794	59999794	+	Missense_Mutation	SNP	T	T	C	rs142297072	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:59999794T>C	ENST00000468189.1	-	6	558	c.188A>G	c.(187-189)cAg>cGg	p.Q63R	FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000476844.1_Missense_Mutation_p.Q63R|FHIT_ENST00000492590.1_Missense_Mutation_p.Q63R|FHIT_ENST00000341848.4_Missense_Mutation_p.Q63R			P49789	FHIT_HUMAN	fragile histidine triad	63	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CCCGACTCTCTGGGTCGTCTG	0.512			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				T|||	3	0.000599042	0.0023	0.0	5008	,	,		19208	0.0		0.0	False		,,,				2504	0.0							Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	0								T	ARG/GLN,ARG/GLN	13,4393	20.2+/-43.8	0,13,2190	98.0	96.0	97.0		188,188	6.0	1.0	3	dbSNP_134	97	0,8600		0,0,4300	yes	missense,missense	FHIT	NM_001166243.1,NM_002012.2	43,43	0,13,6490	CC,CT,TT		0.0,0.2951,0.1	possibly-damaging,possibly-damaging	63/148,63/148	59999794	13,12993	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.188A>G	3.37:g.59999794T>C	ENSP00000417480:p.Gln63Arg		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like	p.Q63R	ENST00000468189.1	37	c.188	CCDS2894.1	3	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	11.26	1.586924	0.28268	0.002951	0.0	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88	5.96	5.96	0.96718	Histidine triad motif (1);Histidine triad-like motif (1);	0.056610	0.64402	D	0.000001	D	0.89030	0.6599	L	0.37466	1.105	0.51767	D	0.999938	B	0.25772	0.134	B	0.34093	0.175	D	0.85194	0.1011	9	.	.	.	-1.7492	15.0195	0.71617	0.0:0.0:0.0:1.0	.	63	P49789	FHIT_HUMAN	R	63	ENSP00000418582:Q63R;ENSP00000417557:Q63R;ENSP00000417480:Q63R;ENSP00000342087:Q63R;ENSP00000418596:Q63R	.	Q	-	2	0	FHIT	59974834	1.000000	0.71417	0.997000	0.53966	0.055000	0.15305	5.016000	0.64041	2.285000	0.76669	0.533000	0.62120	CAG	FHIT	-	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like	ENSG00000189283		0.512	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FHIT	HGNC	protein_coding	OTTHUMT00000351648.1		0.00	55	0	T	NM_002012		59999794	-1			no_errors	ENST00000341848	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	C
FHL5	9457	genome.wustl.edu	37	6	97058456	97058456	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:97058456T>C	ENST00000326771.2	+	6	893	c.513T>C	c.(511-513)acT>acC	p.T171T	FHL5_ENST00000541107.1_Silent_p.T171T	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	171	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGGTGATAACTTCAGGTGGGA	0.423																																																	0													243.0	226.0	232.0					6																	97058456		2203	4300	6503	SO:0001819	synonymous_variant	0			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.513T>C	6.37:g.97058456T>C			B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.T171	ENST00000326771.2	37	c.513	CCDS5035.1	6																																																																																			FHL5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000112214		0.423	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	HGNC	protein_coding	OTTHUMT00000041559.1		0.00	95	0	T	NM_020482		97058456	+1			no_errors	ENST00000326771	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.866	C
FIGN	55137	genome.wustl.edu	37	2	164467610	164467610	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:164467610A>C	ENST00000333129.3	-	3	1046	c.732T>G	c.(730-732)agT>agG	p.S244R	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	244	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GATAGCTGTAACTGGAGAGGT	0.612																																																	0													46.0	50.0	48.0					2																	164467610		1996	4175	6171	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.732T>G	2.37:g.164467610A>C	ENSP00000333836:p.Ser244Arg		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S244R	ENST00000333129.3	37	c.732	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695540	0.48202	.	.	ENSG00000182263	ENST00000333129	T	0.26810	1.71	6.07	2.1	0.27182	.	0.172208	0.50627	D	0.000108	T	0.20088	0.0483	L	0.44542	1.39	0.48762	D	0.999705	B	0.22414	0.069	B	0.23150	0.044	T	0.05419	-1.0886	10	0.59425	D	0.04	-3.0732	7.7109	0.28677	0.67:0.2596:0.0704:0.0	.	244	Q5HY92	FIGN_HUMAN	R	244	ENSP00000333836:S244R	ENSP00000333836:S244R	S	-	3	2	FIGN	164175856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.638000	0.37165	0.486000	0.27676	0.533000	0.62120	AGT	FIGN	-	NULL	ENSG00000182263		0.612	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0.00	48	0	A	NM_018086		164467610	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	35.29	32	18	SNP	1.000	C
FIGN	55137	genome.wustl.edu	37	2	164467610	164467610	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:164467610A>C	ENST00000333129.3	-	3	1046	c.732T>G	c.(730-732)agT>agG	p.S244R	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	244	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GATAGCTGTAACTGGAGAGGT	0.612																																																	0													46.0	50.0	48.0					2																	164467610		1996	4175	6171	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.732T>G	2.37:g.164467610A>C	ENSP00000333836:p.Ser244Arg		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S244R	ENST00000333129.3	37	c.732	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695540	0.48202	.	.	ENSG00000182263	ENST00000333129	T	0.26810	1.71	6.07	2.1	0.27182	.	0.172208	0.50627	D	0.000108	T	0.20088	0.0483	L	0.44542	1.39	0.48762	D	0.999705	B	0.22414	0.069	B	0.23150	0.044	T	0.05419	-1.0886	10	0.59425	D	0.04	-3.0732	7.7109	0.28677	0.67:0.2596:0.0704:0.0	.	244	Q5HY92	FIGN_HUMAN	R	244	ENSP00000333836:S244R	ENSP00000333836:S244R	S	-	3	2	FIGN	164175856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.638000	0.37165	0.486000	0.27676	0.533000	0.62120	AGT	FIGN	-	NULL	ENSG00000182263		0.612	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0.00	69	0	A	NM_018086		164467610	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	35.29	32	18	SNP	1.000	C
FLG	2312	genome.wustl.edu	37	1	152283719	152283719	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152283719T>G	ENST00000368799.1	-	3	3678	c.3643A>C	c.(3643-3645)Agt>Cgt	p.S1215R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1215	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.552									Ichthyosis																																								0													355.0	350.0	351.0					1																	152283719		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3643A>C	1.37:g.152283719T>G	ENSP00000357789:p.Ser1215Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S1215R	ENST00000368799.1	37	c.3643	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	2.866	-0.235137	0.05983	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	0.835	-0.724	0.11177	.	.	.	.	.	T	0.00784	0.0026	M	0.73962	2.25	0.09310	N	1	P	0.39520	0.676	B	0.39706	0.307	T	0.43442	-0.9391	9	0.15952	T	0.53	.	3.4165	0.07377	0.0:0.6402:0.0:0.3598	.	1215	P20930	FILA_HUMAN	R	1215	ENSP00000357789:S1215R	ENSP00000357789:S1215R	S	-	1	0	FLG	150550343	.	.	0.002000	0.10522	0.123000	0.20343	.	.	-0.179000	0.10654	0.156000	0.16432	AGT	FLG	-	NULL	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	194	0	T	NM_002016		152283719	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	16.06	115	22	SNP	0.001	G
FLG	2312	genome.wustl.edu	37	1	152286751	152286751	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152286751A>C	ENST00000368799.1	-	3	646	c.611T>G	c.(610-612)cTt>cGt	p.L204R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	204					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTCTTCAAGTCTTTCACT	0.323									Ichthyosis																																								0													93.0	100.0	98.0					1																	152286751		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.611T>G	1.37:g.152286751A>C	ENSP00000357789:p.Leu204Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.L204R	ENST00000368799.1	37	c.611	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	A	4.658	0.122397	0.08931	.	.	ENSG00000143631	ENST00000368799	T	0.00678	5.87	3.53	-4.34	0.03666	.	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	P	0.42827	0.791	B	0.38020	0.263	T	0.34750	-0.9816	9	0.14252	T	0.57	9.5885	2.5343	0.04711	0.1028:0.1403:0.2803:0.4765	.	204	P20930	FILA_HUMAN	R	204	ENSP00000357789:L204R	ENSP00000357789:L204R	L	-	2	0	FLG	150553375	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.287000	0.00526	-0.591000	0.05859	-0.424000	0.05967	CTT	FLG	-	NULL	ENSG00000143631		0.323	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	28	0	A	NM_002016		152286751	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	18.18	35	8	SNP	0.000	C
FLG	2312	genome.wustl.edu	37	1	152286751	152286751	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152286751A>C	ENST00000368799.1	-	3	646	c.611T>G	c.(610-612)cTt>cGt	p.L204R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	204					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTCTTCAAGTCTTTCACT	0.323									Ichthyosis																																								0													93.0	100.0	98.0					1																	152286751		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.611T>G	1.37:g.152286751A>C	ENSP00000357789:p.Leu204Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.L204R	ENST00000368799.1	37	c.611	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	A	4.658	0.122397	0.08931	.	.	ENSG00000143631	ENST00000368799	T	0.00678	5.87	3.53	-4.34	0.03666	.	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	P	0.42827	0.791	B	0.38020	0.263	T	0.34750	-0.9816	9	0.14252	T	0.57	9.5885	2.5343	0.04711	0.1028:0.1403:0.2803:0.4765	.	204	P20930	FILA_HUMAN	R	204	ENSP00000357789:L204R	ENSP00000357789:L204R	L	-	2	0	FLG	150553375	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.287000	0.00526	-0.591000	0.05859	-0.424000	0.05967	CTT	FLG	-	NULL	ENSG00000143631		0.323	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	56	0	A	NM_002016		152286751	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	18.18	35	8	SNP	0.000	C
FLG2	388698	genome.wustl.edu	37	1	152329678	152329678	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152329678T>C	ENST00000388718.5	-	3	656	c.584A>G	c.(583-585)gAc>gGc	p.D195G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	195	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATGTCTGTCTTTGCCACC	0.463																																																	0													197.0	199.0	199.0					1																	152329678		2203	4300	6503	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.584A>G	1.37:g.152329678T>C	ENSP00000373370:p.Asp195Gly		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.D195G	ENST00000388718.5	37	c.584	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	T	8.133	0.783435	0.16189	.	.	ENSG00000143520	ENST00000388718	T	0.00678	5.87	5.61	2.97	0.34412	.	.	.	.	.	T	0.00210	0.0006	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.52983	-0.8502	9	0.62326	D	0.03	-7.2404	6.0125	0.19584	0.1608:0.0:0.1672:0.672	.	195	Q5D862	FILA2_HUMAN	G	195	ENSP00000373370:D195G	ENSP00000373370:D195G	D	-	2	0	FLG2	150596302	0.003000	0.15002	0.957000	0.39632	0.011000	0.07611	0.405000	0.21015	2.134000	0.65973	0.528000	0.53228	GAC	FLG2	-	NULL	ENSG00000143520		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0.00	41	0	T	NM_001014342		152329678	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.022	C
FLG2	388698	genome.wustl.edu	37	1	152329678	152329678	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152329678T>C	ENST00000388718.5	-	3	656	c.584A>G	c.(583-585)gAc>gGc	p.D195G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	195	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATGTCTGTCTTTGCCACC	0.463																																																	0													197.0	199.0	199.0					1																	152329678		2203	4300	6503	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.584A>G	1.37:g.152329678T>C	ENSP00000373370:p.Asp195Gly		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.D195G	ENST00000388718.5	37	c.584	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	T	8.133	0.783435	0.16189	.	.	ENSG00000143520	ENST00000388718	T	0.00678	5.87	5.61	2.97	0.34412	.	.	.	.	.	T	0.00210	0.0006	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.52983	-0.8502	9	0.62326	D	0.03	-7.2404	6.0125	0.19584	0.1608:0.0:0.1672:0.672	.	195	Q5D862	FILA2_HUMAN	G	195	ENSP00000373370:D195G	ENSP00000373370:D195G	D	-	2	0	FLG2	150596302	0.003000	0.15002	0.957000	0.39632	0.011000	0.07611	0.405000	0.21015	2.134000	0.65973	0.528000	0.53228	GAC	FLG2	-	NULL	ENSG00000143520		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0.00	43	0	T	NM_001014342		152329678	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.022	C
FLJ33360	401172	genome.wustl.edu	37	5	6312630	6312630	+	lincRNA	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:6312630C>T	ENST00000507444.1	-	0	342					NR_028351.1																						GGCAGAGGAACCCCAGGAGAG	0.557																																																	0													84.0	87.0	86.0					5																	6312630		1988	4166	6154			0																															5.37:g.6312630C>T				RNA	SNP	-	NULL	ENST00000507444.1	37	NULL		5																																																																																			CTD-2324F15.2	-	-	ENSG00000250490		0.557	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	FLJ33360	Clone_based_vega_gene	lincRNA	OTTHUMT00000365707.1	-	0.00	35	0	C			6312630	-1	tier1	-	no_errors	ENST00000507444	ensembl	human	known	74_37	rna	16.67	25	5	SNP	0.000	T
FLJ33360	401172	genome.wustl.edu	37	5	6312630	6312630	+	lincRNA	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:6312630C>T	ENST00000507444.1	-	0	342					NR_028351.1																						GGCAGAGGAACCCCAGGAGAG	0.557																																																	0													84.0	87.0	86.0					5																	6312630		1988	4166	6154			0																															5.37:g.6312630C>T				RNA	SNP	-	NULL	ENST00000507444.1	37	NULL		5																																																																																			CTD-2324F15.2	-	-	ENSG00000250490		0.557	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	FLJ33360	Clone_based_vega_gene	lincRNA	OTTHUMT00000365707.1	-	0.00	43	0	C			6312630	-1	tier1	-	no_errors	ENST00000507444	ensembl	human	known	74_37	rna	16.67	25	5	SNP	0.000	T
FMO2	2327	genome.wustl.edu	37	1	171178126	171178126	+	3'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:171178126G>T	ENST00000209929.7	+	0	1608				RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000441535.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)						drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGGAAGGAGCCAGAAATGC	0.463																																																	0													82.0	84.0	84.0					1																	171178126		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.*34G>T	1.37:g.171178126G>T			Q53XR0	RNA	SNP	-	NULL	ENST00000209929.7	37	NULL	CCDS1293.1	1																																																																																			FMO2	-	-	ENSG00000094963		0.463	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	-	0.00	78	0	G	NM_001460		171178126	+1	tier1	-	no_errors	ENST00000529935	ensembl	human	known	74_37	rna	9.52	38	4	SNP	1.000	T
FMO2	2327	genome.wustl.edu	37	1	171178126	171178126	+	3'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:171178126G>T	ENST00000209929.7	+	0	1608				RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000441535.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)						drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGGAAGGAGCCAGAAATGC	0.463																																																	0													82.0	84.0	84.0					1																	171178126		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.*34G>T	1.37:g.171178126G>T			Q53XR0	RNA	SNP	-	NULL	ENST00000209929.7	37	NULL	CCDS1293.1	1																																																																																			FMO2	-	-	ENSG00000094963		0.463	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	-	0.00	80	0	G	NM_001460		171178126	+1	tier1	-	no_errors	ENST00000529935	ensembl	human	known	74_37	rna	9.52	38	4	SNP	1.000	T
FNDC1	84624	genome.wustl.edu	37	6	159660639	159660639	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:159660639A>C	ENST00000297267.9	+	14	4471	c.4271A>C	c.(4270-4272)aAg>aCg	p.K1424T	FNDC1_ENST00000340366.6_Missense_Mutation_p.K1361T|FNDC1-IT1_ENST00000419703.1_RNA	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1424					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCAAGATAAGCCAATTTTG	0.562																																																	0													33.0	47.0	43.0					6																	159660639		1940	4121	6061	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4271A>C	6.37:g.159660639A>C	ENSP00000297267:p.Lys1424Thr		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K1424T	ENST00000297267.9	37	c.4271	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.90|14.90	2.674351|2.674351	0.47781|0.47781	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.16897|.	2.31;3.19|.	5.11|5.11	3.79|3.79	0.43588|0.43588	.|.	0.123114|.	0.53938|.	D|.	0.000048|.	T|.	0.52025|.	0.1709|.	M|M	0.61703|0.61703	1.905|1.905	0.44373|0.44373	D|D	0.997276|0.997276	D;D|.	0.76494|.	0.999;0.998|.	D;P|.	0.74023|.	0.982;0.863|.	T|.	0.53365|.	-0.8449|.	10|.	0.49607|.	T|.	0.09|.	-25.6418|-25.6418	9.7834|9.7834	0.40662|0.40662	0.8827:0.0:0.1173:0.0|0.8827:0.0:0.1173:0.0	.|.	1361;1424|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|Y	1424;1361|1319	ENSP00000297267:K1424T;ENSP00000342460:K1361T|.	ENSP00000297267:K1424T|.	K|X	+|+	2|3	0|2	FNDC1|FNDC1	159580629|159580629	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.977000|0.977000	0.68977|0.68977	2.556000|2.556000	0.45862|0.45862	2.041000|2.041000	0.60428|0.60428	0.533000|0.533000	0.62120|0.62120	AAG|TAA	FNDC1	-	NULL	ENSG00000164694		0.562	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	-	0.00	131	0	A	NM_032532		159660639	+1	tier1	-	no_errors	ENST00000297267	ensembl	human	known	74_37	missense	8.47	108	10	SNP	0.987	C
FNDC1	84624	genome.wustl.edu	37	6	159660639	159660639	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:159660639A>C	ENST00000297267.9	+	14	4471	c.4271A>C	c.(4270-4272)aAg>aCg	p.K1424T	FNDC1_ENST00000340366.6_Missense_Mutation_p.K1361T|FNDC1-IT1_ENST00000419703.1_RNA	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1424					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCAAGATAAGCCAATTTTG	0.562																																																	0													33.0	47.0	43.0					6																	159660639		1940	4121	6061	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4271A>C	6.37:g.159660639A>C	ENSP00000297267:p.Lys1424Thr		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K1424T	ENST00000297267.9	37	c.4271	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.90|14.90	2.674351|2.674351	0.47781|0.47781	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.16897|.	2.31;3.19|.	5.11|5.11	3.79|3.79	0.43588|0.43588	.|.	0.123114|.	0.53938|.	D|.	0.000048|.	T|.	0.52025|.	0.1709|.	M|M	0.61703|0.61703	1.905|1.905	0.44373|0.44373	D|D	0.997276|0.997276	D;D|.	0.76494|.	0.999;0.998|.	D;P|.	0.74023|.	0.982;0.863|.	T|.	0.53365|.	-0.8449|.	10|.	0.49607|.	T|.	0.09|.	-25.6418|-25.6418	9.7834|9.7834	0.40662|0.40662	0.8827:0.0:0.1173:0.0|0.8827:0.0:0.1173:0.0	.|.	1361;1424|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|Y	1424;1361|1319	ENSP00000297267:K1424T;ENSP00000342460:K1361T|.	ENSP00000297267:K1424T|.	K|X	+|+	2|3	0|2	FNDC1|FNDC1	159580629|159580629	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.977000|0.977000	0.68977|0.68977	2.556000|2.556000	0.45862|0.45862	2.041000|2.041000	0.60428|0.60428	0.533000|0.533000	0.62120|0.62120	AAG|TAA	FNDC1	-	NULL	ENSG00000164694		0.562	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	-	0.00	170	0	A	NM_032532		159660639	+1	tier1	-	no_errors	ENST00000297267	ensembl	human	known	74_37	missense	8.47	108	10	SNP	0.987	C
FOLH1	2346	genome.wustl.edu	37	11	49227684	49227684	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:49227684A>G	ENST00000256999.2	-	2	419	c.159T>C	c.(157-159)acT>acC	p.T53T	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.T38T|FOLH1_ENST00000356696.3_Silent_p.T53T|FOLH1_ENST00000340334.7_Silent_p.T38T	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	53					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TATGCTTTGGAGTAATGTTAG	0.328																																																	0													51.0	55.0	54.0					11																	49227684		2198	4285	6483	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.159T>C	11.37:g.49227684A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.T53	ENST00000256999.2	37	c.159	CCDS7946.1	11																																																																																			FOLH1	-	NULL	ENSG00000086205		0.328	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0.00	119	0	A	NM_004476		49227684	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	28.28	71	28	SNP	0.007	G
FOLH1	2346	genome.wustl.edu	37	11	49227684	49227684	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:49227684A>G	ENST00000256999.2	-	2	419	c.159T>C	c.(157-159)acT>acC	p.T53T	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.T38T|FOLH1_ENST00000356696.3_Silent_p.T53T|FOLH1_ENST00000340334.7_Silent_p.T38T	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	53					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TATGCTTTGGAGTAATGTTAG	0.328																																																	0													51.0	55.0	54.0					11																	49227684		2198	4285	6483	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.159T>C	11.37:g.49227684A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.T53	ENST00000256999.2	37	c.159	CCDS7946.1	11																																																																																			FOLH1	-	NULL	ENSG00000086205		0.328	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0.00	69	0	A	NM_004476		49227684	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	28.28	71	28	SNP	0.007	G
FOXF2	2295	genome.wustl.edu	37	6	1390986	1390986	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:1390986C>T	ENST00000259806.1	+	1	918	c.804C>T	c.(802-804)caC>caT	p.H268H		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	268	Poly-His.				embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTcaccaccaccaccaccacc	0.766																																																	0													2.0	3.0	2.0					6																	1390986		1087	2196	3283	SO:0001819	synonymous_variant	0			U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.804C>T	6.37:g.1390986C>T			Q5TGJ1|Q9UQ85	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.H268	ENST00000259806.1	37	c.804	CCDS4472.1	6																																																																																			FOXF2	-	NULL	ENSG00000137273		0.766	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXF2	HGNC	protein_coding	OTTHUMT00000043558.1	-	0.00	10	0	C			1390986	+1	tier1	-	no_errors	ENST00000259806	ensembl	human	known	74_37	silent	66.67	2	4	SNP	1.000	T
FOXG1	2290	genome.wustl.edu	37	14	29237018	29237018	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:29237018A>C	ENST00000313071.4	+	1	732	c.533A>C	c.(532-534)aAg>aCg	p.K178T	RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.K178T|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	178					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		aagAACGGCAAGTACGAGAAG	0.662																																																	0													31.0	33.0	32.0					14																	29237018		2203	4300	6503	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.533A>C	14.37:g.29237018A>C	ENSP00000339004:p.Lys178Thr		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.K178T	ENST00000313071.4	37	c.533	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	A	16.32	3.090471	0.55968	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94138	-3.36;-3.36	3.09	3.09	0.35607	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.728854	0.13089	U	0.414670	D	0.93099	0.7803	N	0.21282	0.65	0.44181	D	0.99699	D	0.64830	0.994	D	0.73708	0.981	D	0.90863	0.4740	10	0.52906	T	0.07	.	10.9614	0.47387	1.0:0.0:0.0:0.0	.	178	P55316	FOXG1_HUMAN	T	178	ENSP00000371975:K178T;ENSP00000339004:K178T	ENSP00000339004:K178T	K	+	2	0	FOXG1	28306769	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.901000	0.69861	1.040000	0.40099	0.248000	0.18094	AAG	FOXG1	-	NULL	ENSG00000176165		0.662	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0.00	45	0	A			29237018	+1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	34.62	16	9	SNP	1.000	C
FOXG1	2290	genome.wustl.edu	37	14	29237018	29237018	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:29237018A>C	ENST00000313071.4	+	1	732	c.533A>C	c.(532-534)aAg>aCg	p.K178T	RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.K178T|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	178					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		aagAACGGCAAGTACGAGAAG	0.662																																																	0													31.0	33.0	32.0					14																	29237018		2203	4300	6503	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.533A>C	14.37:g.29237018A>C	ENSP00000339004:p.Lys178Thr		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.K178T	ENST00000313071.4	37	c.533	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	A	16.32	3.090471	0.55968	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94138	-3.36;-3.36	3.09	3.09	0.35607	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.728854	0.13089	U	0.414670	D	0.93099	0.7803	N	0.21282	0.65	0.44181	D	0.99699	D	0.64830	0.994	D	0.73708	0.981	D	0.90863	0.4740	10	0.52906	T	0.07	.	10.9614	0.47387	1.0:0.0:0.0:0.0	.	178	P55316	FOXG1_HUMAN	T	178	ENSP00000371975:K178T;ENSP00000339004:K178T	ENSP00000339004:K178T	K	+	2	0	FOXG1	28306769	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.901000	0.69861	1.040000	0.40099	0.248000	0.18094	AAG	FOXG1	-	NULL	ENSG00000176165		0.662	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0.00	54	0	A			29237018	+1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	34.62	16	9	SNP	1.000	C
FPGT	8790	genome.wustl.edu	37	1	74671035	74671035	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:74671035T>G	ENST00000609362.1	+	4	1341	c.1304T>G	c.(1303-1305)aTt>aGt	p.I435S	FPGT_ENST00000370894.5_Missense_Mutation_p.L163V|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.I181S|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.I448S|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	435					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GAAAACTGCATTATTAGTGGT	0.413																																																	0													129.0	135.0	133.0					1																	74671035		2203	4300	6503	SO:0001583	missense	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1304T>G	1.37:g.74671035T>G	ENSP00000476680:p.Ile435Ser		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.I448S	ENST00000609362.1	37	c.1343	CCDS663.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.94|15.94	2.980199|2.980199	0.53827|0.53827	.|.	.|.	ENSG00000254685|ENSG00000254685	ENST00000370898;ENST00000534056|ENST00000370894	T;T|.	0.45276|.	0.9;0.9|.	5.72|5.72	5.72|5.72	0.89469|0.89469	L-fucokinase (1);|.	.|.	.|.	.|.	.|.	T|T	0.73001|0.73001	0.3531|0.3531	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.997;0.983;0.999|.	D;P;D|.	0.76575|.	0.959;0.9;0.988|.	T|T	0.78150|0.78150	-0.2316|-0.2316	9|6	0.87932|0.87932	D|D	0|0	.|.	16.0204|16.0204	0.80478|0.80478	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	181;60;435|.	E9PNQ2;B4E2Y7;O14772|.	.;.;FPGT_HUMAN|.	S|V	435;181|163	ENSP00000359935:I435S;ENSP00000432819:I181S|.	ENSP00000359935:I435S|ENSP00000359931:L163V	I|L	+|+	2|1	0|2	TNNI3K|TNNI3K	74443623|74443623	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.402000|0.402000	0.30811|0.30811	7.698000|7.698000	0.84413|0.84413	2.174000|2.174000	0.68829|0.68829	0.533000|0.533000	0.62120|0.62120	ATT|TTA	FPGT	-	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	ENSG00000254685		0.413	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		-	0.00	105	0	T			74671035	+1	tier1	-	no_errors	ENST00000370898	ensembl	human	known	74_37	missense	8.54	75	7	SNP	1.000	G
FPGT	8790	genome.wustl.edu	37	1	74671035	74671035	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:74671035T>G	ENST00000609362.1	+	4	1341	c.1304T>G	c.(1303-1305)aTt>aGt	p.I435S	FPGT_ENST00000370894.5_Missense_Mutation_p.L163V|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.I181S|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.I448S|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	435					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GAAAACTGCATTATTAGTGGT	0.413																																																	0													129.0	135.0	133.0					1																	74671035		2203	4300	6503	SO:0001583	missense	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1304T>G	1.37:g.74671035T>G	ENSP00000476680:p.Ile435Ser		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.I448S	ENST00000609362.1	37	c.1343	CCDS663.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.94|15.94	2.980199|2.980199	0.53827|0.53827	.|.	.|.	ENSG00000254685|ENSG00000254685	ENST00000370898;ENST00000534056|ENST00000370894	T;T|.	0.45276|.	0.9;0.9|.	5.72|5.72	5.72|5.72	0.89469|0.89469	L-fucokinase (1);|.	.|.	.|.	.|.	.|.	T|T	0.73001|0.73001	0.3531|0.3531	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.997;0.983;0.999|.	D;P;D|.	0.76575|.	0.959;0.9;0.988|.	T|T	0.78150|0.78150	-0.2316|-0.2316	9|6	0.87932|0.87932	D|D	0|0	.|.	16.0204|16.0204	0.80478|0.80478	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	181;60;435|.	E9PNQ2;B4E2Y7;O14772|.	.;.;FPGT_HUMAN|.	S|V	435;181|163	ENSP00000359935:I435S;ENSP00000432819:I181S|.	ENSP00000359935:I435S|ENSP00000359931:L163V	I|L	+|+	2|1	0|2	TNNI3K|TNNI3K	74443623|74443623	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.402000|0.402000	0.30811|0.30811	7.698000|7.698000	0.84413|0.84413	2.174000|2.174000	0.68829|0.68829	0.533000|0.533000	0.62120|0.62120	ATT|TTA	FPGT	-	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	ENSG00000254685		0.413	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		-	0.00	140	0	T			74671035	+1	tier1	-	no_errors	ENST00000370898	ensembl	human	known	74_37	missense	8.54	75	7	SNP	1.000	G
FSCB	84075	genome.wustl.edu	37	14	44974872	44974872	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:44974872A>C	ENST00000340446.4	-	1	1610	c.1319T>G	c.(1318-1320)cTt>cGt	p.L440R	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	440						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAAAGCTGAAGTTCTCGAGC	0.507																																																	0													21.0	22.0	21.0					14																	44974872		2163	4282	6445	SO:0001583	missense	0			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1319T>G	14.37:g.44974872A>C	ENSP00000344579:p.Leu440Arg		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.L440R	ENST00000340446.4	37	c.1319	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	A	4.487	0.090202	0.08632	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15834	2.39	4.45	-7.24	0.01475	.	.	.	.	.	T	0.08223	0.0205	L	0.43152	1.355	0.09310	N	1	B	0.28850	0.225	B	0.20384	0.029	T	0.35992	-0.9766	9	0.16420	T	0.52	.	1.0339	0.01544	0.1472:0.2302:0.282:0.3405	.	440	Q5H9T9	FSCB_HUMAN	R	440	ENSP00000344579:L440R	ENSP00000344579:L440R	L	-	2	0	FSCB	44044622	0.052000	0.20516	0.000000	0.03702	0.016000	0.09150	0.458000	0.21892	-1.304000	0.02329	-0.414000	0.06135	CTT	FSCB	-	NULL	ENSG00000189139		0.507	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	-	0.00	49	0	A	NM_032135		44974872	-1	tier1	-	no_errors	ENST00000340446	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.000	C
FSCB	84075	genome.wustl.edu	37	14	44974872	44974872	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:44974872A>C	ENST00000340446.4	-	1	1610	c.1319T>G	c.(1318-1320)cTt>cGt	p.L440R	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	440						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAAAGCTGAAGTTCTCGAGC	0.507																																																	0													21.0	22.0	21.0					14																	44974872		2163	4282	6445	SO:0001583	missense	0			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1319T>G	14.37:g.44974872A>C	ENSP00000344579:p.Leu440Arg		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.L440R	ENST00000340446.4	37	c.1319	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	A	4.487	0.090202	0.08632	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15834	2.39	4.45	-7.24	0.01475	.	.	.	.	.	T	0.08223	0.0205	L	0.43152	1.355	0.09310	N	1	B	0.28850	0.225	B	0.20384	0.029	T	0.35992	-0.9766	9	0.16420	T	0.52	.	1.0339	0.01544	0.1472:0.2302:0.282:0.3405	.	440	Q5H9T9	FSCB_HUMAN	R	440	ENSP00000344579:L440R	ENSP00000344579:L440R	L	-	2	0	FSCB	44044622	0.052000	0.20516	0.000000	0.03702	0.016000	0.09150	0.458000	0.21892	-1.304000	0.02329	-0.414000	0.06135	CTT	FSCB	-	NULL	ENSG00000189139		0.507	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	-	0.00	54	0	A	NM_032135		44974872	-1	tier1	-	no_errors	ENST00000340446	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.000	C
FSTL5	56884	genome.wustl.edu	37	4	162697055	162697055	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:162697055A>G	ENST00000306100.5	-	5	1017	c.581T>C	c.(580-582)cTt>cCt	p.L194P	FSTL5_ENST00000379164.4_Missense_Mutation_p.L193P|FSTL5_ENST00000427802.2_Missense_Mutation_p.L193P|FSTL5_ENST00000536695.1_Missense_Mutation_p.L193P	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	194	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATATCTACAAGTCCATTACT	0.294																																																	0													84.0	88.0	87.0					4																	162697055		2203	4294	6497	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.581T>C	4.37:g.162697055A>G	ENSP00000305334:p.Leu194Pro		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.L194P	ENST00000306100.5	37	c.581	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596586	0.46318	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.3	5.3	0.74995	EF-hand-like domain (1);	0.228496	0.41294	D	0.000919	T	0.45094	0.1325	M	0.75085	2.285	0.80722	D	1	P;D;P	0.59357	0.627;0.985;0.93	B;P;B	0.56823	0.255;0.807;0.36	T	0.37572	-0.9700	10	0.36615	T	0.2	.	14.7157	0.69265	1.0:0.0:0.0:0.0	.	193;193;194	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	P	194;193;193;193	ENSP00000305334:L194P;ENSP00000368462:L193P;ENSP00000389270:L193P;ENSP00000440409:L193P	ENSP00000305334:L194P	L	-	2	0	FSTL5	162916505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.030000	0.57260	2.121000	0.65114	0.528000	0.53228	CTT	FSTL5	-	pfscan_EF_hand_dom	ENSG00000168843		0.294	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0.00	24	0	A	NM_020116		162697055	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	G
FSTL5	56884	genome.wustl.edu	37	4	162697055	162697055	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:162697055A>G	ENST00000306100.5	-	5	1017	c.581T>C	c.(580-582)cTt>cCt	p.L194P	FSTL5_ENST00000379164.4_Missense_Mutation_p.L193P|FSTL5_ENST00000427802.2_Missense_Mutation_p.L193P|FSTL5_ENST00000536695.1_Missense_Mutation_p.L193P	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	194	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATATCTACAAGTCCATTACT	0.294																																																	0													84.0	88.0	87.0					4																	162697055		2203	4294	6497	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.581T>C	4.37:g.162697055A>G	ENSP00000305334:p.Leu194Pro		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.L194P	ENST00000306100.5	37	c.581	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596586	0.46318	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.3	5.3	0.74995	EF-hand-like domain (1);	0.228496	0.41294	D	0.000919	T	0.45094	0.1325	M	0.75085	2.285	0.80722	D	1	P;D;P	0.59357	0.627;0.985;0.93	B;P;B	0.56823	0.255;0.807;0.36	T	0.37572	-0.9700	10	0.36615	T	0.2	.	14.7157	0.69265	1.0:0.0:0.0:0.0	.	193;193;194	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	P	194;193;193;193	ENSP00000305334:L194P;ENSP00000368462:L193P;ENSP00000389270:L193P;ENSP00000440409:L193P	ENSP00000305334:L194P	L	-	2	0	FSTL5	162916505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.030000	0.57260	2.121000	0.65114	0.528000	0.53228	CTT	FSTL5	-	pfscan_EF_hand_dom	ENSG00000168843		0.294	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0.00	42	0	A	NM_020116		162697055	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	G
FZD5	7855	genome.wustl.edu	37	2	208632693	208632693	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:208632693G>A	ENST00000295417.3	-	2	1324	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	257					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGTCGATGAGGAAGGTGGCCA	0.617																																																	0													86.0	79.0	81.0					2																	208632693		2202	4298	6500	SO:0001819	synonymous_variant	0			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.771C>T	2.37:g.208632693G>A			A8K2X1|B2RCZ1|Q53R22	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F257	ENST00000295417.3	37	c.771	CCDS33366.1	2																																																																																			FZD5	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000163251		0.617	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1	-	0.00	52	0	G	NM_003468		208632693	-1	tier1	-	no_errors	ENST00000295417	ensembl	human	known	74_37	silent	12.00	44	6	SNP	1.000	A
FZD5	7855	genome.wustl.edu	37	2	208632693	208632693	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:208632693G>A	ENST00000295417.3	-	2	1324	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	257					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGTCGATGAGGAAGGTGGCCA	0.617																																																	0													86.0	79.0	81.0					2																	208632693		2202	4298	6500	SO:0001819	synonymous_variant	0			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.771C>T	2.37:g.208632693G>A			A8K2X1|B2RCZ1|Q53R22	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F257	ENST00000295417.3	37	c.771	CCDS33366.1	2																																																																																			FZD5	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000163251		0.617	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1	-	0.00	66	0	G	NM_003468		208632693	-1	tier1	-	no_errors	ENST00000295417	ensembl	human	known	74_37	silent	12.00	44	6	SNP	1.000	A
G3BP2	9908	genome.wustl.edu	37	4	76572306	76572306	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:76572306G>A	ENST00000359707.4	-	10	1749	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	G3BP2_ENST00000395719.3_Missense_Mutation_p.R322C|G3BP2_ENST00000357854.3_Missense_Mutation_p.R289C	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	322					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATTATTCTACGGTTGTCAGAG	0.348																																																	0													107.0	107.0	107.0					4																	76572306		2203	4299	6502	SO:0001583	missense	0			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.964C>T	4.37:g.76572306G>A	ENSP00000352738:p.Arg322Cys		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.R322C	ENST00000359707.4	37	c.964	CCDS3571.1	4	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092281	0.76756	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.79940	-1.32;-1.32;-1.28	6.04	4.29	0.51040	.	0.043950	0.85682	N	0.000000	D	0.87055	0.6082	M	0.69358	2.11	0.80722	D	1	B;D	0.89917	0.003;1.0	B;D	0.71414	0.003;0.973	D	0.87045	0.2143	10	0.72032	D	0.01	.	11.4467	0.50127	0.0649:0.0:0.8089:0.1263	.	289;322	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	C	322;322;289	ENSP00000379069:R322C;ENSP00000352738:R322C;ENSP00000350518:R289C	ENSP00000350518:R289C	R	-	1	0	G3BP2	76791330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.950000	0.56676	0.861000	0.35504	0.561000	0.74099	CGT	G3BP2	-	NULL	ENSG00000138757		0.348	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	G3BP2	HGNC	protein_coding	OTTHUMT00000252399.2	-	0.00	15	0	G	NM_012297		76572306	-1	tier1	-	no_errors	ENST00000359707	ensembl	human	known	74_37	missense	38.46	8	5	SNP	1.000	A
G3BP2	9908	genome.wustl.edu	37	4	76572306	76572306	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:76572306G>A	ENST00000359707.4	-	10	1749	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	G3BP2_ENST00000395719.3_Missense_Mutation_p.R322C|G3BP2_ENST00000357854.3_Missense_Mutation_p.R289C	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	322					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATTATTCTACGGTTGTCAGAG	0.348																																																	0													107.0	107.0	107.0					4																	76572306		2203	4299	6502	SO:0001583	missense	0			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.964C>T	4.37:g.76572306G>A	ENSP00000352738:p.Arg322Cys		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.R322C	ENST00000359707.4	37	c.964	CCDS3571.1	4	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092281	0.76756	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.79940	-1.32;-1.32;-1.28	6.04	4.29	0.51040	.	0.043950	0.85682	N	0.000000	D	0.87055	0.6082	M	0.69358	2.11	0.80722	D	1	B;D	0.89917	0.003;1.0	B;D	0.71414	0.003;0.973	D	0.87045	0.2143	10	0.72032	D	0.01	.	11.4467	0.50127	0.0649:0.0:0.8089:0.1263	.	289;322	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	C	322;322;289	ENSP00000379069:R322C;ENSP00000352738:R322C;ENSP00000350518:R289C	ENSP00000350518:R289C	R	-	1	0	G3BP2	76791330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.950000	0.56676	0.861000	0.35504	0.561000	0.74099	CGT	G3BP2	-	NULL	ENSG00000138757		0.348	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	G3BP2	HGNC	protein_coding	OTTHUMT00000252399.2	-	0.00	29	0	G	NM_012297		76572306	-1	tier1	-	no_errors	ENST00000359707	ensembl	human	known	74_37	missense	38.46	8	5	SNP	1.000	A
GABRA1	2554	genome.wustl.edu	37	5	161300296	161300296	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:161300296C>A	ENST00000428797.2	+	6	784	c.429C>A	c.(427-429)aaC>aaA	p.N143K	GABRA1_ENST00000420560.1_Missense_Mutation_p.N143K|GABRA1_ENST00000437025.2_Missense_Mutation_p.N143K|GABRA1_ENST00000393943.4_Missense_Mutation_p.N143K|GABRA1_ENST00000444819.1_Missense_Mutation_p.N143K|GABRA1_ENST00000023897.6_Missense_Mutation_p.N143K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	143					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCATGCCCAACAAACTCCTGC	0.473																																																	0													84.0	72.0	76.0					5																	161300296		2203	4300	6503	SO:0001583	missense	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.429C>A	5.37:g.161300296C>A	ENSP00000393097:p.Asn143Lys		D3DQK6|Q8N629	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.N143K	ENST00000428797.2	37	c.429	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809358	0.70797	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.85	1.07	0.20283	Neurotransmitter-gated ion-channel ligand-binding (3);	0.045450	0.85682	D	0.000000	D	0.84911	0.5577	H	0.95187	3.635	0.58432	D	0.999999	B	0.27229	0.172	B	0.31614	0.133	T	0.82121	-0.0614	10	0.87932	D	0	.	10.0361	0.42129	0.0:0.5643:0.0:0.4357	.	143	P14867	GBRA1_HUMAN	K	143	ENSP00000023897:N143K;ENSP00000393097:N143K;ENSP00000377517:N143K;ENSP00000415441:N143K;ENSP00000408041:N143K;ENSP00000414232:N143K	ENSP00000023897:N143K	N	+	3	2	GABRA1	161232874	0.982000	0.34865	0.997000	0.53966	0.984000	0.73092	0.280000	0.18790	0.108000	0.17862	-0.224000	0.12420	AAC	GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000022355		0.473	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	-	0.00	67	0	C	NM_000806.5		161300296	+1	tier1	-	no_errors	ENST00000023897	ensembl	human	known	74_37	missense	25.00	57	19	SNP	1.000	A
GABRA1	2554	genome.wustl.edu	37	5	161300296	161300296	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:161300296C>A	ENST00000428797.2	+	6	784	c.429C>A	c.(427-429)aaC>aaA	p.N143K	GABRA1_ENST00000420560.1_Missense_Mutation_p.N143K|GABRA1_ENST00000437025.2_Missense_Mutation_p.N143K|GABRA1_ENST00000393943.4_Missense_Mutation_p.N143K|GABRA1_ENST00000444819.1_Missense_Mutation_p.N143K|GABRA1_ENST00000023897.6_Missense_Mutation_p.N143K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	143					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCATGCCCAACAAACTCCTGC	0.473																																																	0													84.0	72.0	76.0					5																	161300296		2203	4300	6503	SO:0001583	missense	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.429C>A	5.37:g.161300296C>A	ENSP00000393097:p.Asn143Lys		D3DQK6|Q8N629	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.N143K	ENST00000428797.2	37	c.429	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809358	0.70797	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.85	1.07	0.20283	Neurotransmitter-gated ion-channel ligand-binding (3);	0.045450	0.85682	D	0.000000	D	0.84911	0.5577	H	0.95187	3.635	0.58432	D	0.999999	B	0.27229	0.172	B	0.31614	0.133	T	0.82121	-0.0614	10	0.87932	D	0	.	10.0361	0.42129	0.0:0.5643:0.0:0.4357	.	143	P14867	GBRA1_HUMAN	K	143	ENSP00000023897:N143K;ENSP00000393097:N143K;ENSP00000377517:N143K;ENSP00000415441:N143K;ENSP00000408041:N143K;ENSP00000414232:N143K	ENSP00000023897:N143K	N	+	3	2	GABRA1	161232874	0.982000	0.34865	0.997000	0.53966	0.984000	0.73092	0.280000	0.18790	0.108000	0.17862	-0.224000	0.12420	AAC	GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000022355		0.473	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	-	0.00	89	0	C	NM_000806.5		161300296	+1	tier1	-	no_errors	ENST00000023897	ensembl	human	known	74_37	missense	25.00	57	19	SNP	1.000	A
GABRB3	2562	genome.wustl.edu	37	15	26812796	26812796	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:26812796A>T	ENST00000311550.5	-	7	878	c.767T>A	c.(766-768)cTg>cAg	p.L256Q	GABRB3_ENST00000299267.4_Missense_Mutation_p.L256Q|GABRB3_ENST00000541819.2_Missense_Mutation_p.L312Q|GABRB3_ENST00000400188.3_Missense_Mutation_p.L185Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.L171Q	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	256					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AATCGTTATCAGTATAGAGGG	0.418																																																	0													132.0	112.0	119.0					15																	26812796		2203	4300	6503	SO:0001583	missense	0				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.767T>A	15.37:g.26812796A>T	ENSP00000308725:p.Leu256Gln		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L256Q	ENST00000311550.5	37	c.767	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424757	0.62733	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.991;0.995	D	0.97965	1.0340	10	0.87932	D	0	.	15.7938	0.78394	1.0:0.0:0.0:0.0	.	312;256;256	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	Q	256;312;256;185;171	ENSP00000308725:L256Q;ENSP00000442408:L312Q;ENSP00000299267:L256Q;ENSP00000383049:L185Q;ENSP00000439169:L171Q	ENSP00000299267:L256Q	L	-	2	0	GABRB3	24363889	1.000000	0.71417	0.972000	0.41901	0.112000	0.19704	9.204000	0.95041	2.322000	0.78497	0.528000	0.53228	CTG	GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000166206		0.418	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	-	0.00	42	0	A			26812796	-1	tier1	-	no_errors	ENST00000299267	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	T
GABRB3	2562	genome.wustl.edu	37	15	26812796	26812796	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:26812796A>T	ENST00000311550.5	-	7	878	c.767T>A	c.(766-768)cTg>cAg	p.L256Q	GABRB3_ENST00000299267.4_Missense_Mutation_p.L256Q|GABRB3_ENST00000541819.2_Missense_Mutation_p.L312Q|GABRB3_ENST00000400188.3_Missense_Mutation_p.L185Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.L171Q	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	256					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AATCGTTATCAGTATAGAGGG	0.418																																																	0													132.0	112.0	119.0					15																	26812796		2203	4300	6503	SO:0001583	missense	0				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.767T>A	15.37:g.26812796A>T	ENSP00000308725:p.Leu256Gln		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L256Q	ENST00000311550.5	37	c.767	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424757	0.62733	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.991;0.995	D	0.97965	1.0340	10	0.87932	D	0	.	15.7938	0.78394	1.0:0.0:0.0:0.0	.	312;256;256	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	Q	256;312;256;185;171	ENSP00000308725:L256Q;ENSP00000442408:L312Q;ENSP00000299267:L256Q;ENSP00000383049:L185Q;ENSP00000439169:L171Q	ENSP00000299267:L256Q	L	-	2	0	GABRB3	24363889	1.000000	0.71417	0.972000	0.41901	0.112000	0.19704	9.204000	0.95041	2.322000	0.78497	0.528000	0.53228	CTG	GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000166206		0.418	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	-	0.00	55	0	A			26812796	-1	tier1	-	no_errors	ENST00000299267	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	T
GATA1	2623	genome.wustl.edu	37	X	48652484	48652484	+	Silent	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:48652484C>G	ENST00000376670.3	+	6	1266	c.1155C>G	c.(1153-1155)ccC>ccG	p.P385P	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	385					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TCCCTGGACCCCTACTGGGCT	0.657			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													26.0	25.0	25.0					X																	48652484		2202	4299	6501	SO:0001819	synonymous_variant	0			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1155C>G	X.37:g.48652484C>G			Q96GB8	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P385	ENST00000376670.3	37	c.1155	CCDS14305.1	X																																																																																			GATA1	-	pirsf_TF_GATA-1/2/3	ENSG00000102145		0.657	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	-	0.00	35	0	C	NM_002049		48652484	+1	tier1	-	no_errors	ENST00000376670	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.001	G
GATA1	2623	genome.wustl.edu	37	X	48652484	48652484	+	Silent	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:48652484C>G	ENST00000376670.3	+	6	1266	c.1155C>G	c.(1153-1155)ccC>ccG	p.P385P	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	385					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TCCCTGGACCCCTACTGGGCT	0.657			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													26.0	25.0	25.0					X																	48652484		2202	4299	6501	SO:0001819	synonymous_variant	0			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1155C>G	X.37:g.48652484C>G			Q96GB8	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P385	ENST00000376670.3	37	c.1155	CCDS14305.1	X																																																																																			GATA1	-	pirsf_TF_GATA-1/2/3	ENSG00000102145		0.657	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	-	0.00	45	0	C	NM_002049		48652484	+1	tier1	-	no_errors	ENST00000376670	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.001	G
GBP7	388646	genome.wustl.edu	37	1	89597890	89597890	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:89597890T>G	ENST00000294671.2	-	11	1997	c.1859A>C	c.(1858-1860)aAa>aCa	p.K620T		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	620						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GCTAAGAATTTTCATTCCTAA	0.368																																																	0													75.0	76.0	76.0					1																	89597890		2203	4300	6503	SO:0001583	missense	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1859A>C	1.37:g.89597890T>G	ENSP00000294671:p.Lys620Thr			Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.K620T	ENST00000294671.2	37	c.1859	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	T	9.362	1.068318	0.20067	.	.	ENSG00000213512	ENST00000294671	T	0.64991	-0.13	4.02	-1.53	0.08611	.	0.493459	0.18683	N	0.134088	T	0.16811	0.0404	N	0.19112	0.55	0.09310	N	1	B	0.34200	0.441	B	0.32149	0.141	T	0.12967	-1.0527	10	0.52906	T	0.07	.	0.4248	0.00461	0.1799:0.2196:0.1855:0.415	.	620	Q8N8V2	GBP7_HUMAN	T	620	ENSP00000294671:K620T	ENSP00000294671:K620T	K	-	2	0	GBP7	89370478	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.210000	0.09345	-0.116000	0.11893	0.383000	0.25322	AAA	GBP7	-	NULL	ENSG00000213512		0.368	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1		0.00	85	0	T	NM_207398		89597890	-1			no_errors	ENST00000294671	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	G
GCM2	9247	genome.wustl.edu	37	6	10874965	10874965	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:10874965A>T	ENST00000379491.4	-	5	931	c.784T>A	c.(784-786)Tca>Aca	p.S262T	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	262					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTTGGGCTTGAGTATTTCTGG	0.463																																																	0													170.0	163.0	166.0					6																	10874965		2203	4300	6503	SO:0001583	missense	0			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.784T>A	6.37:g.10874965A>T	ENSP00000368805:p.Ser262Thr		D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.S262T	ENST00000379491.4	37	c.784	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	A	8.870	0.949093	0.18356	.	.	ENSG00000124827	ENST00000379491	T	0.68025	-0.3	5.35	1.47	0.22746	.	0.369337	0.33772	N	0.004562	T	0.22627	0.0546	N	0.17474	0.49	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05886	-1.0858	10	0.23302	T	0.38	-0.0249	4.5567	0.12140	0.2111:0.0:0.4233:0.3656	.	262	O75603	GCM2_HUMAN	T	262	ENSP00000368805:S262T	ENSP00000368805:S262T	S	-	1	0	GCM2	10982951	0.701000	0.27806	0.992000	0.48379	0.462000	0.32619	0.097000	0.15168	0.042000	0.15717	-1.117000	0.02048	TCA	GCM2	-	NULL	ENSG00000124827		0.463	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1		0.00	100	0	A			10874965	-1			no_errors	ENST00000379491	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.970	T
GDPD1	284161	genome.wustl.edu	37	17	57344462	57344462	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:57344462T>G	ENST00000284116.4	+	7	774	c.637T>G	c.(637-639)Ttc>Gtc	p.F213V	GDPD1_ENST00000581276.1_Missense_Mutation_p.F213V|GDPD1_ENST00000581140.1_Missense_Mutation_p.F213V	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	213	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TGGCCTTTTCTTCACTGGCCT	0.358																																																	0													193.0	172.0	179.0					17																	57344462		2202	4299	6501	SO:0001583	missense	0			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.637T>G	17.37:g.57344462T>G	ENSP00000284116:p.Phe213Val		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.F213V	ENST00000284116.4	37	c.637	CCDS11616.1	17	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794558	0.50102	.	.	ENSG00000153982	ENST00000284116	T	0.10960	2.82	5.57	5.57	0.84162	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.102463	0.64402	D	0.000001	T	0.07413	0.0187	N	0.11313	0.125	0.46011	D	0.998815	B;B	0.28783	0.222;0.185	B;B	0.28139	0.082;0.086	T	0.38672	-0.9650	10	0.39692	T	0.17	-22.7062	14.9174	0.70807	0.0:0.0:0.0:1.0	.	213;213	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	V	213	ENSP00000284116:F213V	ENSP00000284116:F213V	F	+	1	0	GDPD1	54699244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	2.133000	0.65898	0.528000	0.53228	TTC	GDPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000153982		0.358	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD1	HGNC	protein_coding	OTTHUMT00000446024.1	-	0.00	100	0	T	NM_182569		57344462	+1	tier1	-	no_errors	ENST00000284116	ensembl	human	known	74_37	missense	19.54	70	17	SNP	1.000	G
GDPD1	284161	genome.wustl.edu	37	17	57344462	57344462	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:57344462T>G	ENST00000284116.4	+	7	774	c.637T>G	c.(637-639)Ttc>Gtc	p.F213V	GDPD1_ENST00000581276.1_Missense_Mutation_p.F213V|GDPD1_ENST00000581140.1_Missense_Mutation_p.F213V	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	213	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TGGCCTTTTCTTCACTGGCCT	0.358																																																	0													193.0	172.0	179.0					17																	57344462		2202	4299	6501	SO:0001583	missense	0			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.637T>G	17.37:g.57344462T>G	ENSP00000284116:p.Phe213Val		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.F213V	ENST00000284116.4	37	c.637	CCDS11616.1	17	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794558	0.50102	.	.	ENSG00000153982	ENST00000284116	T	0.10960	2.82	5.57	5.57	0.84162	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.102463	0.64402	D	0.000001	T	0.07413	0.0187	N	0.11313	0.125	0.46011	D	0.998815	B;B	0.28783	0.222;0.185	B;B	0.28139	0.082;0.086	T	0.38672	-0.9650	10	0.39692	T	0.17	-22.7062	14.9174	0.70807	0.0:0.0:0.0:1.0	.	213;213	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	V	213	ENSP00000284116:F213V	ENSP00000284116:F213V	F	+	1	0	GDPD1	54699244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	2.133000	0.65898	0.528000	0.53228	TTC	GDPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000153982		0.358	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD1	HGNC	protein_coding	OTTHUMT00000446024.1	-	0.00	47	0	T	NM_182569		57344462	+1	tier1	-	no_errors	ENST00000284116	ensembl	human	known	74_37	missense	19.54	70	17	SNP	1.000	G
GFRA3	2676	genome.wustl.edu	37	5	137593388	137593388	+	Missense_Mutation	SNP	G	G	A	rs573286530		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:137593388G>A	ENST00000274721.3	-	4	971	c.725C>T	c.(724-726)cCg>cTg	p.P242L	GFRA3_ENST00000378362.3_Missense_Mutation_p.P211L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	242					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCACAGGCGGCAGCGCGCA	0.706													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12771	0.0		0.0	False		,,,				2504	0.0																0													12.0	15.0	14.0					5																	137593388		2171	4244	6415	SO:0001583	missense	0			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.725C>T	5.37:g.137593388G>A	ENSP00000274721:p.Pro242Leu		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.P242L	ENST00000274721.3	37	c.725	CCDS4201.1	5	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044663	0.55110	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.44083	1.53;0.93	4.81	3.87	0.44632	.	0.198458	0.43579	D	0.000543	T	0.56262	0.1973	M	0.63428	1.95	0.47547	D	0.999458	D;D	0.89917	1.0;1.0	D;D	0.81914	0.926;0.995	T	0.53620	-0.8413	10	0.37606	T	0.19	-17.9025	9.4872	0.38937	0.0:0.0:0.7891:0.2108	.	211;242	O60609-2;O60609	.;GFRA3_HUMAN	L	242;211	ENSP00000274721:P242L;ENSP00000367613:P211L	ENSP00000274721:P242L	P	-	2	0	GFRA3	137621287	0.997000	0.39634	0.832000	0.32986	0.302000	0.27658	2.748000	0.47483	2.212000	0.71576	0.655000	0.94253	CCG	GFRA3	-	NULL	ENSG00000146013		0.706	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	-	0.00	32	0	G	NM_001496		137593388	-1	tier1	-	no_errors	ENST00000274721	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.714	A
GLMN	11146	genome.wustl.edu	37	1	92730170	92730170	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:92730170A>T	ENST00000370360.3	-	14	1321	c.1240T>A	c.(1240-1242)Tca>Aca	p.S414T	GLMN_ENST00000534881.1_Missense_Mutation_p.S400T	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	414					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCCACACCTGAGTGATTACTT	0.294									Multiple Glomus Tumors (of the Skin), Familial																																								0													73.0	74.0	74.0					1																	92730170		2202	4292	6494	SO:0001583	missense	0	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1240T>A	1.37:g.92730170A>T	ENSP00000359385:p.Ser414Thr		Q5VVC3|Q9BVE8	Missense_Mutation	SNP	pfam_YAP-bd/Alf4/glomulin	p.S414T	ENST00000370360.3	37	c.1240	CCDS738.1	1	.	.	.	.	.	.	.	.	.	.	a	17.46	3.395928	0.62177	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.42900	0.96;0.96	5.62	4.43	0.53597	.	0.182328	0.47852	D	0.000210	T	0.30792	0.0776	L	0.47716	1.5	0.33947	D	0.643961	P;P	0.47484	0.896;0.896	P;P	0.48368	0.519;0.575	T	0.28776	-1.0033	10	0.66056	D	0.02	-14.982	10.9984	0.47591	0.7844:0.2156:0.0:0.0	.	400;414	B4DJ85;Q92990	.;GLMN_HUMAN	T	414;400	ENSP00000359385:S414T;ENSP00000440156:S400T	ENSP00000359385:S414T	S	-	1	0	GLMN	92502758	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.558000	0.45879	2.267000	0.75376	0.477000	0.44152	TCA	GLMN	-	pfam_YAP-bd/Alf4/glomulin	ENSG00000174842		0.294	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLMN	HGNC	protein_coding	OTTHUMT00000028358.1	-	0.00	39	0	A	NM_007070		92730170	-1	tier1	-	no_errors	ENST00000370360	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	T
GLMN	11146	genome.wustl.edu	37	1	92730170	92730170	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:92730170A>T	ENST00000370360.3	-	14	1321	c.1240T>A	c.(1240-1242)Tca>Aca	p.S414T	GLMN_ENST00000534881.1_Missense_Mutation_p.S400T	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	414					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCCACACCTGAGTGATTACTT	0.294									Multiple Glomus Tumors (of the Skin), Familial																																								0													73.0	74.0	74.0					1																	92730170		2202	4292	6494	SO:0001583	missense	0	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1240T>A	1.37:g.92730170A>T	ENSP00000359385:p.Ser414Thr		Q5VVC3|Q9BVE8	Missense_Mutation	SNP	pfam_YAP-bd/Alf4/glomulin	p.S414T	ENST00000370360.3	37	c.1240	CCDS738.1	1	.	.	.	.	.	.	.	.	.	.	a	17.46	3.395928	0.62177	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.42900	0.96;0.96	5.62	4.43	0.53597	.	0.182328	0.47852	D	0.000210	T	0.30792	0.0776	L	0.47716	1.5	0.33947	D	0.643961	P;P	0.47484	0.896;0.896	P;P	0.48368	0.519;0.575	T	0.28776	-1.0033	10	0.66056	D	0.02	-14.982	10.9984	0.47591	0.7844:0.2156:0.0:0.0	.	400;414	B4DJ85;Q92990	.;GLMN_HUMAN	T	414;400	ENSP00000359385:S414T;ENSP00000440156:S400T	ENSP00000359385:S414T	S	-	1	0	GLMN	92502758	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.558000	0.45879	2.267000	0.75376	0.477000	0.44152	TCA	GLMN	-	pfam_YAP-bd/Alf4/glomulin	ENSG00000174842		0.294	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLMN	HGNC	protein_coding	OTTHUMT00000028358.1	-	0.00	82	0	A	NM_007070		92730170	-1	tier1	-	no_errors	ENST00000370360	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	T
GJA5	2702	genome.wustl.edu	37	1	147230937	147230937	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:147230937T>C	ENST00000271348.2	-	2	571	c.410A>G	c.(409-411)gAg>gGg	p.E137G	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.E137G	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	137					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ATTCCCTTCCTCCCAGCAGGA	0.607																																																	0													79.0	75.0	76.0					1																	147230937		2203	4300	6503	SO:0001583	missense	0				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.410A>G	1.37:g.147230937T>C	ENSP00000271348:p.Glu137Gly		Q5T3B6|Q5U0N6	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.E137G	ENST00000271348.2	37	c.410	CCDS929.1	1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.558288	0.45590	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97831	-4.5;-4.5;-4.56	5.68	4.56	0.56223	.	0.438779	0.21716	N	0.070186	D	0.93051	0.7788	L	0.56769	1.78	0.30897	N	0.729697	B	0.11235	0.004	B	0.12837	0.008	D	0.88226	0.2900	10	0.26408	T	0.33	.	11.086	0.48086	0.0:0.0719:0.0:0.9281	.	137	P36382	CXA5_HUMAN	G	137	ENSP00000271348:E137G;ENSP00000358240:E137G;ENSP00000407645:E137G	ENSP00000271348:E137G	E	-	2	0	GJA5	145697561	0.997000	0.39634	1.000000	0.80357	0.873000	0.50193	2.744000	0.47450	2.163000	0.67991	0.460000	0.39030	GAG	GJA5	-	NULL	ENSG00000143140		0.607	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	HGNC	protein_coding	OTTHUMT00000039422.2		0.00	40	0	T	NM_181703		147230937	-1			no_errors	ENST00000271348	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	C
GLRB	2743	genome.wustl.edu	37	4	158091619	158091619	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:158091619T>C	ENST00000264428.4	+	10	1503	c.1233T>C	c.(1231-1233)tcT>tcC	p.S411S	GLRB_ENST00000512619.1_Missense_Mutation_p.L53P|GLRB_ENST00000509282.1_Silent_p.S411S|GLRB_ENST00000541722.1_3'UTR	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	411					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TTTGTACTTCTAAGTCTGATC	0.328																																																	0													70.0	73.0	72.0					4																	158091619		2203	4300	6503	SO:0001819	synonymous_variant	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1233T>C	4.37:g.158091619T>C			A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	NULL	p.L53P	ENST00000264428.4	37	c.158	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	T	9.047	0.991228	0.18966	.	.	ENSG00000109738	ENST00000512619	.	.	.	6.06	-12.1	0.00011	.	.	.	.	.	T	0.48077	0.1480	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64571	-0.6376	5	0.87932	D	0	.	2.9046	0.05716	0.2175:0.3981:0.1589:0.2255	.	.	.	.	P	53	.	ENSP00000425433:L53P	L	+	2	0	GLRB	158311069	0.001000	0.12720	0.414000	0.26521	0.979000	0.70002	-1.803000	0.01740	-2.454000	0.00540	-0.263000	0.10527	CTA	GLRB	-	NULL	ENSG00000109738		0.328	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1		0.00	50	0	T	NM_000824		158091619	+1			no_errors	ENST00000512619	ensembl	human	putative	74_37	missense	6.52	42	3	SNP	0.044	C
GMEB1	10691	genome.wustl.edu	37	1	29041385	29041386	+	3'UTR	INS	-	-	A	rs372271712|rs559808019|rs528044464	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:29041385_29041386insA	ENST00000294409.2	+	0	1912				GMEB1_ENST00000361872.4_3'UTR|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000373816.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCTTTTTTAAAAAAAAAAA	0.342																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.*100->A	1.37:g.29041396_29041396dupA			B1AT48|Q9NWH1|Q9UKD0	RNA	INS	-	NULL	ENST00000294409.2	37	NULL	CCDS327.1	1																																																																																			GMEB1	-	-	ENSG00000162419		0.342	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1		0.00	48	0	-	NM_006582		29041386	+1	tier1		no_errors	ENST00000480454	ensembl	human	known	74_37	rna	8.33	55	5	INS	0.437:0.252	A
GNAI3	2773	genome.wustl.edu	37	1	110128893	110128893	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:110128893G>A	ENST00000369851.4	+	6	756	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	216					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TCACTGTTTTGAGGGAGTGAC	0.453																																																	0													292.0	235.0	255.0					1																	110128893		2203	4300	6503	SO:0001583	missense	0			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.646G>A	1.37:g.110128893G>A	ENSP00000358867:p.Glu216Lys		P17539|Q5TZX1	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha	p.E216K	ENST00000369851.4	37	c.646	CCDS802.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.278936	0.95489	.	.	ENSG00000065135	ENST00000369851	D	0.90004	-2.6	5.02	4.08	0.47627	.	0.046302	0.85682	D	0.000000	D	0.92057	0.7483	M	0.89785	3.06	0.80722	D	1	P	0.37824	0.609	P	0.49085	0.6	D	0.93262	0.6644	10	0.87932	D	0	.	15.0743	0.72066	0.0:0.143:0.857:0.0	.	216	P08754	GNAI3_HUMAN	K	216	ENSP00000358867:E216K	ENSP00000358867:E216K	E	+	1	0	GNAI3	109930416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.190000	0.43042	0.585000	0.79938	GAG	GNAI3	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000065135		0.453	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI3	HGNC	protein_coding	OTTHUMT00000032222.1	-	0.00	45	0	G	NM_006496		110128893	+1	tier1	-	no_errors	ENST00000369851	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	A
GNAI3	2773	genome.wustl.edu	37	1	110128893	110128893	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:110128893G>A	ENST00000369851.4	+	6	756	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	216					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TCACTGTTTTGAGGGAGTGAC	0.453																																																	0													292.0	235.0	255.0					1																	110128893		2203	4300	6503	SO:0001583	missense	0			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.646G>A	1.37:g.110128893G>A	ENSP00000358867:p.Glu216Lys		P17539|Q5TZX1	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha	p.E216K	ENST00000369851.4	37	c.646	CCDS802.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.278936	0.95489	.	.	ENSG00000065135	ENST00000369851	D	0.90004	-2.6	5.02	4.08	0.47627	.	0.046302	0.85682	D	0.000000	D	0.92057	0.7483	M	0.89785	3.06	0.80722	D	1	P	0.37824	0.609	P	0.49085	0.6	D	0.93262	0.6644	10	0.87932	D	0	.	15.0743	0.72066	0.0:0.143:0.857:0.0	.	216	P08754	GNAI3_HUMAN	K	216	ENSP00000358867:E216K	ENSP00000358867:E216K	E	+	1	0	GNAI3	109930416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.190000	0.43042	0.585000	0.79938	GAG	GNAI3	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000065135		0.453	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI3	HGNC	protein_coding	OTTHUMT00000032222.1	-	0.00	83	0	G	NM_006496		110128893	+1	tier1	-	no_errors	ENST00000369851	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	A
TTC41P	253724	genome.wustl.edu	37	12	104283377	104283377	+	IGR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:104283377G>T								RP11-650K20.3 (44935 upstream) : RP11-642P15.1 (24427 downstream)																							CCATGCGACAGGCACAGTAAG	0.532																																																	0																																										SO:0001628	intergenic_variant	0																															12.37:g.104283377G>T				RNA	SNP	-	NULL		37	NULL		12																																																																																			RP11-642P15.1	-	-	ENSG00000214198	0	0.532					GNN	Clone_based_vega_gene			-	0.00	34	0	G			104283377	-1	tier1	-	no_errors	ENST00000548520	ensembl	human	known	74_37	rna	16.00	21	4	SNP	0.806	T
GPAA1	8733	genome.wustl.edu	37	8	145139755	145139755	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:145139755T>C	ENST00000355091.4	+	8	1262	c.1141T>C	c.(1141-1143)Ttg>Ctg	p.L381L	GPAA1_ENST00000361036.6_Silent_p.L321L	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	381					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCGGCTTCTTGCTCCTGGT	0.602																																																	0													114.0	123.0	120.0					8																	145139755		2013	4168	6181	SO:0001819	synonymous_variant	0			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1141T>C	8.37:g.145139755T>C			Q9NSS0|Q9UQ31	Silent	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.L381	ENST00000355091.4	37	c.1141	CCDS43776.1	8																																																																																			GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	ENSG00000197858		0.602	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	-	0.00	41	0	T	NM_003801		145139755	+1	tier1	-	no_errors	ENST00000355091	ensembl	human	known	74_37	silent	40.54	22	15	SNP	1.000	C
GPAA1	8733	genome.wustl.edu	37	8	145139755	145139755	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:145139755T>C	ENST00000355091.4	+	8	1262	c.1141T>C	c.(1141-1143)Ttg>Ctg	p.L381L	GPAA1_ENST00000361036.6_Silent_p.L321L	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	381					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCGGCTTCTTGCTCCTGGT	0.602																																																	0													114.0	123.0	120.0					8																	145139755		2013	4168	6181	SO:0001819	synonymous_variant	0			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1141T>C	8.37:g.145139755T>C			Q9NSS0|Q9UQ31	Silent	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.L381	ENST00000355091.4	37	c.1141	CCDS43776.1	8																																																																																			GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	ENSG00000197858		0.602	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	-	0.00	46	0	T	NM_003801		145139755	+1	tier1	-	no_errors	ENST00000355091	ensembl	human	known	74_37	silent	40.54	22	15	SNP	1.000	C
GPR34	2857	genome.wustl.edu	37	X	41555683	41555683	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:41555683G>A	ENST00000378142.4	+	3	1081	c.797G>A	c.(796-798)cGt>cAt	p.R266H	CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R266H|CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	266					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						ACTACAGCTCGTAACTCCTTT	0.318																																																	0													164.0	118.0	134.0					X																	41555683		2203	4300	6503	SO:0001583	missense	0			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.797G>A	X.37:g.41555683G>A	ENSP00000367384:p.Arg266His		O95853	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R266H	ENST00000378142.4	37	c.797	CCDS14258.1	X	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164927	0.57476	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.40225	1.04;1.04	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.251580	0.39544	N	0.001332	T	0.66607	0.2806	M	0.87381	2.88	0.36889	D	0.889785	D	0.76494	0.999	D	0.75020	0.985	T	0.75196	-0.3403	10	0.48119	T	0.1	-7.5893	11.8951	0.52652	0.0817:0.0:0.9183:0.0	.	266	Q9UPC5	GPR34_HUMAN	H	266;266;219	ENSP00000367384:R266H;ENSP00000367378:R266H	ENSP00000367378:R266H	R	+	2	0	GPR34	41440627	0.991000	0.36638	0.913000	0.36048	0.867000	0.49689	3.921000	0.56454	2.290000	0.77057	0.594000	0.82650	CGT	GPR34	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171659		0.318	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR34	HGNC	protein_coding	OTTHUMT00000056264.1	-	0.00	25	0	G	NM_005300		41555683	+1	tier1	-	no_errors	ENST00000378138	ensembl	human	known	74_37	missense	72.41	8	21	SNP	0.970	A
GPR34	2857	genome.wustl.edu	37	X	41555683	41555683	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:41555683G>A	ENST00000378142.4	+	3	1081	c.797G>A	c.(796-798)cGt>cAt	p.R266H	CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R266H|CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	266					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						ACTACAGCTCGTAACTCCTTT	0.318																																																	0													164.0	118.0	134.0					X																	41555683		2203	4300	6503	SO:0001583	missense	0			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.797G>A	X.37:g.41555683G>A	ENSP00000367384:p.Arg266His		O95853	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R266H	ENST00000378142.4	37	c.797	CCDS14258.1	X	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164927	0.57476	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.40225	1.04;1.04	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.251580	0.39544	N	0.001332	T	0.66607	0.2806	M	0.87381	2.88	0.36889	D	0.889785	D	0.76494	0.999	D	0.75020	0.985	T	0.75196	-0.3403	10	0.48119	T	0.1	-7.5893	11.8951	0.52652	0.0817:0.0:0.9183:0.0	.	266	Q9UPC5	GPR34_HUMAN	H	266;266;219	ENSP00000367384:R266H;ENSP00000367378:R266H	ENSP00000367378:R266H	R	+	2	0	GPR34	41440627	0.991000	0.36638	0.913000	0.36048	0.867000	0.49689	3.921000	0.56454	2.290000	0.77057	0.594000	0.82650	CGT	GPR34	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171659		0.318	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR34	HGNC	protein_coding	OTTHUMT00000056264.1	-	0.00	33	0	G	NM_005300		41555683	+1	tier1	-	no_errors	ENST00000378138	ensembl	human	known	74_37	missense	72.41	8	21	SNP	0.970	A
GPR37	2861	genome.wustl.edu	37	7	124404500	124404500	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:124404500G>A	ENST00000303921.2	-	1	1181	c.531C>T	c.(529-531)agC>agT	p.S177S		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	177					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAAAAGATCGCTGGCTCCGG	0.602																																																	0													52.0	61.0	58.0					7																	124404500		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.531C>T	7.37:g.124404500G>A			A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.S177	ENST00000303921.2	37	c.531	CCDS5792.1	7																																																																																			GPR37	-	NULL	ENSG00000170775		0.602	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1		0.00	121	0	G	NM_005302		124404500	-1			no_errors	ENST00000303921	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.005	A
GPR55	9290	genome.wustl.edu	37	2	231775283	231775283	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:231775283A>G	ENST00000392040.1	-	2	587	c.395T>C	c.(394-396)cTc>cCc	p.L132P	GPR55_ENST00000392039.2_Missense_Mutation_p.L132P|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	132					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GGGGGACCGGAGGTGGCTCAC	0.542																																																	0													51.0	47.0	49.0					2																	231775283		2203	4300	6503	SO:0001583	missense	0			AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.395T>C	2.37:g.231775283A>G	ENSP00000375894:p.Leu132Pro		Q8N580	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L132P	ENST00000392040.1	37	c.395	CCDS2480.1	2	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480576	0.63849	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.73047	-0.71;-0.71;-0.71	5.65	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	0.835210	0.10867	N	0.625345	T	0.79782	0.4505	M	0.73753	2.245	0.58432	D	0.999996	D	0.71674	0.998	D	0.68943	0.961	T	0.72434	-0.4295	10	0.33940	T	0.23	-25.5335	6.7608	0.23540	0.5942:0.3268:0.0791:0.0	.	132	Q9Y2T6	GPR55_HUMAN	P	132	ENSP00000375894:L132P;ENSP00000375893:L132P;ENSP00000412768:L132P	ENSP00000375893:L132P	L	-	2	0	GPR55	231483527	0.030000	0.19436	0.988000	0.46212	0.891000	0.51852	2.917000	0.48821	0.395000	0.25257	0.533000	0.62120	CTC	GPR55	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000135898		0.542	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR55	HGNC	protein_coding	OTTHUMT00000332618.1	-	0.00	53	0	A	NM_005683		231775283	-1	tier1	-	no_errors	ENST00000392039	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.991	G
GPR55	9290	genome.wustl.edu	37	2	231775283	231775283	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:231775283A>G	ENST00000392040.1	-	2	587	c.395T>C	c.(394-396)cTc>cCc	p.L132P	GPR55_ENST00000392039.2_Missense_Mutation_p.L132P|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	132					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GGGGGACCGGAGGTGGCTCAC	0.542																																																	0													51.0	47.0	49.0					2																	231775283		2203	4300	6503	SO:0001583	missense	0			AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.395T>C	2.37:g.231775283A>G	ENSP00000375894:p.Leu132Pro		Q8N580	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L132P	ENST00000392040.1	37	c.395	CCDS2480.1	2	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480576	0.63849	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.73047	-0.71;-0.71;-0.71	5.65	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	0.835210	0.10867	N	0.625345	T	0.79782	0.4505	M	0.73753	2.245	0.58432	D	0.999996	D	0.71674	0.998	D	0.68943	0.961	T	0.72434	-0.4295	10	0.33940	T	0.23	-25.5335	6.7608	0.23540	0.5942:0.3268:0.0791:0.0	.	132	Q9Y2T6	GPR55_HUMAN	P	132	ENSP00000375894:L132P;ENSP00000375893:L132P;ENSP00000412768:L132P	ENSP00000375893:L132P	L	-	2	0	GPR55	231483527	0.030000	0.19436	0.988000	0.46212	0.891000	0.51852	2.917000	0.48821	0.395000	0.25257	0.533000	0.62120	CTC	GPR55	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000135898		0.542	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR55	HGNC	protein_coding	OTTHUMT00000332618.1	-	0.00	59	0	A	NM_005683		231775283	-1	tier1	-	no_errors	ENST00000392039	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.991	G
GRIA4	2893	genome.wustl.edu	37	11	105795332	105795332	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:105795332T>G	ENST00000530497.1	+	11	1684	c.1684T>G	c.(1684-1686)Tta>Gta	p.L562V	GRIA4_ENST00000282499.5_Missense_Mutation_p.L562V|GRIA4_ENST00000393127.2_Missense_Mutation_p.L562V|GRIA4_ENST00000525187.1_Missense_Mutation_p.L562V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	562					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CAGCGTGGTCTTATTCCTAGT	0.483																																																	0													184.0	160.0	168.0					11																	105795332		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1684T>G	11.37:g.105795332T>G	ENSP00000435775:p.Leu562Val		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L562V	ENST00000530497.1	37	c.1684	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004132	0.74932	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.55	4.42	0.53409	Ionotropic glutamate receptor (2);	0.000000	0.53938	D	0.000056	T	0.67306	0.2879	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.985;0.997	T	0.70487	-0.4858	10	0.87932	D	0	.	4.704	0.12841	0.0:0.266:0.0:0.734	.	562;562	P48058;G3V164	GRIA4_HUMAN;.	V	562	ENSP00000282499:L562V;ENSP00000376835:L562V;ENSP00000435775:L562V;ENSP00000432180:L562V	ENSP00000282499:L562V	L	+	1	2	GRIA4	105300542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.215000	0.51169	2.237000	0.73441	0.528000	0.53228	TTA	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152578		0.483	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	-	0.00	32	0	T			105795332	+1	tier1	-	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	G
GRIA4	2893	genome.wustl.edu	37	11	105795332	105795332	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:105795332T>G	ENST00000530497.1	+	11	1684	c.1684T>G	c.(1684-1686)Tta>Gta	p.L562V	GRIA4_ENST00000282499.5_Missense_Mutation_p.L562V|GRIA4_ENST00000393127.2_Missense_Mutation_p.L562V|GRIA4_ENST00000525187.1_Missense_Mutation_p.L562V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	562					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CAGCGTGGTCTTATTCCTAGT	0.483																																																	0													184.0	160.0	168.0					11																	105795332		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1684T>G	11.37:g.105795332T>G	ENSP00000435775:p.Leu562Val		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L562V	ENST00000530497.1	37	c.1684	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004132	0.74932	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.55	4.42	0.53409	Ionotropic glutamate receptor (2);	0.000000	0.53938	D	0.000056	T	0.67306	0.2879	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.985;0.997	T	0.70487	-0.4858	10	0.87932	D	0	.	4.704	0.12841	0.0:0.266:0.0:0.734	.	562;562	P48058;G3V164	GRIA4_HUMAN;.	V	562	ENSP00000282499:L562V;ENSP00000376835:L562V;ENSP00000435775:L562V;ENSP00000432180:L562V	ENSP00000282499:L562V	L	+	1	2	GRIA4	105300542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.215000	0.51169	2.237000	0.73441	0.528000	0.53228	TTA	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152578		0.483	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	-	0.00	39	0	T			105795332	+1	tier1	-	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	G
GRID2	2895	genome.wustl.edu	37	4	94343959	94343959	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:94343959G>A	ENST00000282020.4	+	10	1643	c.1385G>A	c.(1384-1386)gGt>gAt	p.G462D	GRID2_ENST00000510992.1_Missense_Mutation_p.G367D	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	462				G -> C (in Ref. 1; AAC39579). {ECO:0000305}.	cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AATGTCTTGGGTAAGCCGAAG	0.383																																																	0													97.0	97.0	97.0					4																	94343959		2203	4300	6503	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1385G>A	4.37:g.94343959G>A	ENSP00000282020:p.Gly462Asp		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G462D	ENST00000282020.4	37	c.1385	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617517	0.87359	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11169	2.8;2.8	5.23	5.23	0.72850	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.46947	1.48	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.99;0.997	T	0.00544	-1.1679	10	0.41790	T	0.15	.	18.8133	0.92068	0.0:0.0:1.0:0.0	.	367;462	E9PH24;O43424	.;GRID2_HUMAN	D	462;367	ENSP00000282020:G462D;ENSP00000421257:G367D	ENSP00000282020:G462D	G	+	2	0	GRID2	94562982	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.864000	0.99589	2.438000	0.82558	0.650000	0.86243	GGT	GRID2	-	pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000152208		0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	-	0.00	112	0	G			94343959	+1	tier1	-	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	22.22	63	18	SNP	1.000	A
GRID2	2895	genome.wustl.edu	37	4	94343959	94343959	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:94343959G>A	ENST00000282020.4	+	10	1643	c.1385G>A	c.(1384-1386)gGt>gAt	p.G462D	GRID2_ENST00000510992.1_Missense_Mutation_p.G367D	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	462				G -> C (in Ref. 1; AAC39579). {ECO:0000305}.	cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AATGTCTTGGGTAAGCCGAAG	0.383																																																	0													97.0	97.0	97.0					4																	94343959		2203	4300	6503	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1385G>A	4.37:g.94343959G>A	ENSP00000282020:p.Gly462Asp		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G462D	ENST00000282020.4	37	c.1385	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617517	0.87359	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11169	2.8;2.8	5.23	5.23	0.72850	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.46947	1.48	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.99;0.997	T	0.00544	-1.1679	10	0.41790	T	0.15	.	18.8133	0.92068	0.0:0.0:1.0:0.0	.	367;462	E9PH24;O43424	.;GRID2_HUMAN	D	462;367	ENSP00000282020:G462D;ENSP00000421257:G367D	ENSP00000282020:G462D	G	+	2	0	GRID2	94562982	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.864000	0.99589	2.438000	0.82558	0.650000	0.86243	GGT	GRID2	-	pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000152208		0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	-	0.00	58	0	G			94343959	+1	tier1	-	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	22.22	63	18	SNP	1.000	A
SLC6A6	6533	genome.wustl.edu	37	3	14530733	14530733	+	3'UTR	DEL	T	T	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:14530733delT	ENST00000454876.2	+	0	6410				SLC6A6_ENST00000360861.3_3'UTR|GRIP2_ENST00000273083.3_RNA			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TTTGCAGGGGTTTTTTTCTCT	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.*4218T>-	3.37:g.14530733delT			B2RNU7|Q9BRI2|Q9BXB0	RNA	DEL	-	NULL	ENST00000454876.2	37	NULL	CCDS33705.1	3																																																																																			GRIP2	-	-	ENSG00000144596		0.279	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP2	HGNC	protein_coding	OTTHUMT00000340507.1		0.00	33	0	T	NM_003043		14530733	-1	tier1		no_errors	ENST00000273083	ensembl	human	known	74_37	rna	21.74	36	10	DEL	0.000	-
SLC6A6	6533	genome.wustl.edu	37	3	14530733	14530733	+	3'UTR	DEL	T	T	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:14530733delT	ENST00000454876.2	+	0	6410				SLC6A6_ENST00000360861.3_3'UTR|GRIP2_ENST00000273083.3_RNA			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TTTGCAGGGGTTTTTTTCTCT	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.*4218T>-	3.37:g.14530733delT			B2RNU7|Q9BRI2|Q9BXB0	RNA	DEL	-	NULL	ENST00000454876.2	37	NULL	CCDS33705.1	3																																																																																			GRIP2	-	-	ENSG00000144596		0.279	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP2	HGNC	protein_coding	OTTHUMT00000340507.1		0.00	68	0	T	NM_003043		14530733	-1	tier1		no_errors	ENST00000273083	ensembl	human	known	74_37	rna	21.74	36	10	DEL	0.000	-
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																																	0																																												0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G				RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	-	0.00	54	0	T	NR_002164		72663998	-1	tier1	-	no_errors	ENST00000425256	ensembl	human	known	74_37	rna	8.70	42	4	SNP	1.000	G
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G	rs202030378|rs372212945	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCCA	0.505													GGGGG|GGGG|GGGGG|deletion	3786	0.75599	0.7247	0.8242	5008	,	,		6539	0.7212		0.8101	False		,,,				2504	0.7301																0																																												0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664019_72664019dupG				RNA	INS	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.505	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1		0.00	17	0	-	NR_002164		72664016	-1	tier1		no_errors	ENST00000425256	ensembl	human	known	74_37	rna	16.67	20	4	INS	0.912:0.964	G
GUCA1C	9626	genome.wustl.edu	37	3	108626976	108626976	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:108626976A>C	ENST00000261047.3	-	4	655	c.523T>G	c.(523-525)Ttc>Gtc	p.F175V	GUCA1C_ENST00000393963.3_Missense_Mutation_p.L188R	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	175					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						ACATTGGAGAAGTCGAAGCTC	0.423																																					NSCLC(157;1360 1999 30631 40189 44208)												0													102.0	97.0	99.0					3																	108626976		2203	4300	6503	SO:0001583	missense	0			AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"""EF-hand domain containing"""	4680	protein-coding gene	gene with protein product	"""guanylyl cyclase-activating protein 3"""	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.523T>G	3.37:g.108626976A>C	ENSP00000261047:p.Phe175Val		O95844|Q9UNM0	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.F175V	ENST00000261047.3	37	c.523	CCDS2954.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.05|11.05	1.525894|1.525894	0.27299|0.27299	.|.	.|.	ENSG00000138472|ENSG00000138472	ENST00000261047|ENST00000393963	T|T	0.69685|0.71579	-0.42|-0.58	4.74|4.74	0.171|0.171	0.15026|0.15026	.|.	0.387651|.	0.26122|.	N|.	0.026207|.	T|T	0.57460|0.57460	0.2055|0.2055	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999997|0.999997	B|B	0.09022|0.28512	0.002|0.214	B|B	0.19666|0.28011	0.026|0.085	T|T	0.48570|0.48570	-0.9024|-0.9024	10|9	0.72032|0.59425	D|D	0.01|0.04	.|.	10.5277|10.5277	0.44958|0.44958	0.2703:0.0:0.7297:0.0|0.2703:0.0:0.7297:0.0	.|.	175|188	O95843|C9JNI2	GUC1C_HUMAN|.	V|R	175|188	ENSP00000261047:F175V|ENSP00000377535:L188R	ENSP00000261047:F175V|ENSP00000377535:L188R	F|L	-|-	1|2	0|0	GUCA1C|GUCA1C	110109666|110109666	1.000000|1.000000	0.71417|0.71417	0.003000|0.003000	0.11579|0.11579	0.724000|0.724000	0.41520|0.41520	1.449000|1.449000	0.35123|0.35123	-0.213000|-0.213000	0.10094|0.10094	-0.230000|-0.230000	0.12252|0.12252	TTC|CTT	GUCA1C	-	NULL	ENSG00000138472		0.423	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA1C	HGNC	protein_coding	OTTHUMT00000353819.1	-	0.00	55	0	A	NM_005459		108626976	-1	tier1	-	no_errors	ENST00000261047	ensembl	human	known	74_37	missense	40.30	40	27	SNP	0.220	C
GUCA1C	9626	genome.wustl.edu	37	3	108626976	108626976	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:108626976A>C	ENST00000261047.3	-	4	655	c.523T>G	c.(523-525)Ttc>Gtc	p.F175V	GUCA1C_ENST00000393963.3_Missense_Mutation_p.L188R	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	175					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						ACATTGGAGAAGTCGAAGCTC	0.423																																					NSCLC(157;1360 1999 30631 40189 44208)												0													102.0	97.0	99.0					3																	108626976		2203	4300	6503	SO:0001583	missense	0			AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"""EF-hand domain containing"""	4680	protein-coding gene	gene with protein product	"""guanylyl cyclase-activating protein 3"""	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.523T>G	3.37:g.108626976A>C	ENSP00000261047:p.Phe175Val		O95844|Q9UNM0	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.F175V	ENST00000261047.3	37	c.523	CCDS2954.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.05|11.05	1.525894|1.525894	0.27299|0.27299	.|.	.|.	ENSG00000138472|ENSG00000138472	ENST00000261047|ENST00000393963	T|T	0.69685|0.71579	-0.42|-0.58	4.74|4.74	0.171|0.171	0.15026|0.15026	.|.	0.387651|.	0.26122|.	N|.	0.026207|.	T|T	0.57460|0.57460	0.2055|0.2055	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999997|0.999997	B|B	0.09022|0.28512	0.002|0.214	B|B	0.19666|0.28011	0.026|0.085	T|T	0.48570|0.48570	-0.9024|-0.9024	10|9	0.72032|0.59425	D|D	0.01|0.04	.|.	10.5277|10.5277	0.44958|0.44958	0.2703:0.0:0.7297:0.0|0.2703:0.0:0.7297:0.0	.|.	175|188	O95843|C9JNI2	GUC1C_HUMAN|.	V|R	175|188	ENSP00000261047:F175V|ENSP00000377535:L188R	ENSP00000261047:F175V|ENSP00000377535:L188R	F|L	-|-	1|2	0|0	GUCA1C|GUCA1C	110109666|110109666	1.000000|1.000000	0.71417|0.71417	0.003000|0.003000	0.11579|0.11579	0.724000|0.724000	0.41520|0.41520	1.449000|1.449000	0.35123|0.35123	-0.213000|-0.213000	0.10094|0.10094	-0.230000|-0.230000	0.12252|0.12252	TTC|CTT	GUCA1C	-	NULL	ENSG00000138472		0.423	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA1C	HGNC	protein_coding	OTTHUMT00000353819.1	-	0.00	63	0	A	NM_005459		108626976	-1	tier1	-	no_errors	ENST00000261047	ensembl	human	known	74_37	missense	40.30	40	27	SNP	0.220	C
SMARCA5	8467	genome.wustl.edu	37	4	144481247	144481247	+	IGR	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:144481247A>G	ENST00000283131.3	+	0	7923				GUSBP5_ENST00000510805.1_RNA	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TCCACCGCAGACACCCACCTT	0.507																																																	0													33.0	30.0	31.0					4																	144481247		692	1591	2283	SO:0001628	intergenic_variant	0			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474		4.37:g.144481247A>G				RNA	SNP	-	NULL	ENST00000283131.3	37	NULL	CCDS3761.1	4																																																																																			GUSBP5	-	-	ENSG00000236296		0.507	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSBP5	HGNC	protein_coding	OTTHUMT00000365077.3	-	0.00	52	0	A			144481247	+1	tier1	-	no_errors	ENST00000509369	ensembl	human	known	74_37	rna	16.28	36	7	SNP	0.027	G
SMARCA5	8467	genome.wustl.edu	37	4	144481247	144481247	+	IGR	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:144481247A>G	ENST00000283131.3	+	0	7923				GUSBP5_ENST00000510805.1_RNA	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TCCACCGCAGACACCCACCTT	0.507																																																	0													33.0	30.0	31.0					4																	144481247		692	1591	2283	SO:0001628	intergenic_variant	0			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474		4.37:g.144481247A>G				RNA	SNP	-	NULL	ENST00000283131.3	37	NULL	CCDS3761.1	4																																																																																			GUSBP5	-	-	ENSG00000236296		0.507	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSBP5	HGNC	protein_coding	OTTHUMT00000365077.3	-	0.00	54	0	A			144481247	+1	tier1	-	no_errors	ENST00000509369	ensembl	human	known	74_37	rna	16.28	36	7	SNP	0.027	G
HCN1	348980	genome.wustl.edu	37	5	45262548	45262548	+	Silent	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:45262548A>T	ENST00000303230.4	-	8	2205	c.2148T>A	c.(2146-2148)acT>acA	p.T716T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	716					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CATAGTGGAAAGTTCGAGCGG	0.652																																																	0													43.0	43.0	43.0					5																	45262548		2203	4300	6503	SO:0001819	synonymous_variant	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2148T>A	5.37:g.45262548A>T				Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.T716	ENST00000303230.4	37	c.2148	CCDS3952.1	5																																																																																			HCN1	-	NULL	ENSG00000164588		0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0.00	70	0	A	NM_021072		45262548	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	silent	9.09	50	5	SNP	1.000	T
HCN1	348980	genome.wustl.edu	37	5	45262548	45262548	+	Silent	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:45262548A>T	ENST00000303230.4	-	8	2205	c.2148T>A	c.(2146-2148)acT>acA	p.T716T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	716					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CATAGTGGAAAGTTCGAGCGG	0.652																																																	0													43.0	43.0	43.0					5																	45262548		2203	4300	6503	SO:0001819	synonymous_variant	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2148T>A	5.37:g.45262548A>T				Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.T716	ENST00000303230.4	37	c.2148	CCDS3952.1	5																																																																																			HCN1	-	NULL	ENSG00000164588		0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0.00	73	0	A	NM_021072		45262548	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	silent	9.09	50	5	SNP	1.000	T
HDGFRP3	50810	genome.wustl.edu	37	15	83826671	83826671	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:83826671T>G	ENST00000299633.4	-	3	887	c.284A>C	c.(283-285)aAg>aCg	p.K95T		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		95					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GCCAGTAAACTTTACTCCTGG	0.343																																																	0													140.0	130.0	134.0					15																	83826671		2203	4300	6503	SO:0001583	missense	0																														ENST00000299633.4:c.284A>C	15.37:g.83826671T>G	ENSP00000299633:p.Lys95Thr			Missense_Mutation	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.K95T	ENST00000299633.4	37	c.284	CCDS32314.1	15	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919716	0.73098	.	.	ENSG00000166503	ENST00000299633	T	0.72725	-0.68	5.28	5.28	0.74379	.	0.048875	0.85682	D	0.000000	T	0.78935	0.4362	L	0.49640	1.575	0.43574	D	0.9959	P	0.43392	0.805	P	0.60609	0.877	T	0.76484	-0.2942	10	0.33141	T	0.24	.	15.5016	0.75703	0.0:0.0:0.0:1.0	.	95	Q9Y3E1	HDGR3_HUMAN	T	95	ENSP00000299633:K95T	ENSP00000299633:K95T	K	-	2	0	AC024270.1	81617675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.137000	0.71710	2.124000	0.65301	0.460000	0.39030	AAG	HDGFRP3	-	NULL	ENSG00000166503		0.343	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFRP3	Uniprot_gn	protein_coding	OTTHUMT00000419898.1	-	0.00	42	0	T			83826671	-1	tier1	-	no_errors	ENST00000299633	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	G
HDGFRP3	50810	genome.wustl.edu	37	15	83826671	83826671	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:83826671T>G	ENST00000299633.4	-	3	887	c.284A>C	c.(283-285)aAg>aCg	p.K95T		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		95					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GCCAGTAAACTTTACTCCTGG	0.343																																																	0													140.0	130.0	134.0					15																	83826671		2203	4300	6503	SO:0001583	missense	0																														ENST00000299633.4:c.284A>C	15.37:g.83826671T>G	ENSP00000299633:p.Lys95Thr			Missense_Mutation	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.K95T	ENST00000299633.4	37	c.284	CCDS32314.1	15	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919716	0.73098	.	.	ENSG00000166503	ENST00000299633	T	0.72725	-0.68	5.28	5.28	0.74379	.	0.048875	0.85682	D	0.000000	T	0.78935	0.4362	L	0.49640	1.575	0.43574	D	0.9959	P	0.43392	0.805	P	0.60609	0.877	T	0.76484	-0.2942	10	0.33141	T	0.24	.	15.5016	0.75703	0.0:0.0:0.0:1.0	.	95	Q9Y3E1	HDGR3_HUMAN	T	95	ENSP00000299633:K95T	ENSP00000299633:K95T	K	-	2	0	AC024270.1	81617675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.137000	0.71710	2.124000	0.65301	0.460000	0.39030	AAG	HDGFRP3	-	NULL	ENSG00000166503		0.343	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFRP3	Uniprot_gn	protein_coding	OTTHUMT00000419898.1	-	0.00	48	0	T			83826671	-1	tier1	-	no_errors	ENST00000299633	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	G
HEATR5B	54497	genome.wustl.edu	37	2	37295884	37295884	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:37295884C>A	ENST00000233099.5	-	8	1212	c.1117G>T	c.(1117-1119)Gcc>Tcc	p.A373S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A373S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	373						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAATCTGGGCTTTTTCACCT	0.443																																																	0													73.0	72.0	72.0					2																	37295884		2203	4300	6503	SO:0001583	missense	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1117G>T	2.37:g.37295884C>A	ENSP00000233099:p.Ala373Ser		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A373S	ENST00000233099.5	37	c.1117	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.363463	0.95877	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07908	3.15;3.15	5.67	5.67	0.87782	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	M	0.79693	2.465	0.80722	D	1	D	0.59357	0.985	P	0.57846	0.828	T	0.03384	-1.1042	10	0.18276	T	0.48	-12.1035	19.7635	0.96333	0.0:1.0:0.0:0.0	.	373	Q9P2D3	HTR5B_HUMAN	S	373	ENSP00000233099:A373S;ENSP00000346531:A373S	ENSP00000233099:A373S	A	-	1	0	HEATR5B	37149388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.732000	0.84908	2.669000	0.90835	0.655000	0.94253	GCC	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.443	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	-	0.00	75	0	C	NM_019024		37295884	-1	tier1	-	no_errors	ENST00000233099	ensembl	human	known	74_37	missense	20.93	67	18	SNP	1.000	A
HEATR5B	54497	genome.wustl.edu	37	2	37295884	37295884	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:37295884C>A	ENST00000233099.5	-	8	1212	c.1117G>T	c.(1117-1119)Gcc>Tcc	p.A373S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A373S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	373						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAATCTGGGCTTTTTCACCT	0.443																																																	0													73.0	72.0	72.0					2																	37295884		2203	4300	6503	SO:0001583	missense	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1117G>T	2.37:g.37295884C>A	ENSP00000233099:p.Ala373Ser		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A373S	ENST00000233099.5	37	c.1117	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.363463	0.95877	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07908	3.15;3.15	5.67	5.67	0.87782	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	M	0.79693	2.465	0.80722	D	1	D	0.59357	0.985	P	0.57846	0.828	T	0.03384	-1.1042	10	0.18276	T	0.48	-12.1035	19.7635	0.96333	0.0:1.0:0.0:0.0	.	373	Q9P2D3	HTR5B_HUMAN	S	373	ENSP00000233099:A373S;ENSP00000346531:A373S	ENSP00000233099:A373S	A	-	1	0	HEATR5B	37149388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.732000	0.84908	2.669000	0.90835	0.655000	0.94253	GCC	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.443	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	-	0.00	95	0	C	NM_019024		37295884	-1	tier1	-	no_errors	ENST00000233099	ensembl	human	known	74_37	missense	20.93	67	18	SNP	1.000	A
HDLBP	3069	genome.wustl.edu	37	2	242186238	242186238	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:242186238T>A	ENST00000391975.1	-	16	2106	c.1879A>T	c.(1879-1881)Att>Ttt	p.I627F	AC104841.1_ENST00000578965.1_RNA|HDLBP_ENST00000391976.2_Missense_Mutation_p.I627F|HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000427183.2_Missense_Mutation_p.I594F|HDLBP_ENST00000310931.4_Missense_Mutation_p.I627F	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	627	KH 7. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GTGATGATAATGGTCTCTGAA	0.468																																																	0													177.0	175.0	175.0					2																	242186238		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1879A>T	2.37:g.242186238T>A	ENSP00000375836:p.Ile627Phe		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.I627F	ENST00000391975.1	37	c.1879	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.23|14.23	2.472950|2.472950	0.43942|0.43942	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.38560	.|1.13;1.13;1.13;1.13;1.13	6.16|6.16	5.0|5.0	0.66597|0.66597	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55114|0.55114	0.1900|0.1900	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	.|D;P	.|0.55385	.|0.971;0.871	.|P;P	.|0.62491	.|0.9;0.903	T|T	0.57248|0.57248	-0.7844|-0.7844	5|10	.|0.87932	.|D	.|0	-11.7473|-11.7473	12.4623|12.4623	0.55738|0.55738	0.0:0.065:0.0:0.935|0.0:0.065:0.0:0.935	.|.	.|594;627	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	L|F	435|627;627;627;594;136	.|ENSP00000375836:I627F;ENSP00000375837:I627F;ENSP00000312042:I627F;ENSP00000399139:I594F;ENSP00000388876:I136F	.|ENSP00000312042:I627F	H|I	-|-	2|1	0|0	HDLBP|HDLBP	241834911|241834911	1.000000|1.000000	0.71417|0.71417	0.015000|0.015000	0.15790|0.15790	0.045000|0.045000	0.14185|0.14185	7.971000|7.971000	0.88012|0.88012	1.141000|1.141000	0.42275|0.42275	0.528000|0.528000	0.53228|0.53228	CAT|ATT	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.468	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0.00	51	0	T	NM_203346		242186238	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	25.93	40	14	SNP	0.998	A
HDLBP	3069	genome.wustl.edu	37	2	242186238	242186238	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:242186238T>A	ENST00000391975.1	-	16	2106	c.1879A>T	c.(1879-1881)Att>Ttt	p.I627F	AC104841.1_ENST00000578965.1_RNA|HDLBP_ENST00000391976.2_Missense_Mutation_p.I627F|HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000427183.2_Missense_Mutation_p.I594F|HDLBP_ENST00000310931.4_Missense_Mutation_p.I627F	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	627	KH 7. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GTGATGATAATGGTCTCTGAA	0.468																																																	0													177.0	175.0	175.0					2																	242186238		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1879A>T	2.37:g.242186238T>A	ENSP00000375836:p.Ile627Phe		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.I627F	ENST00000391975.1	37	c.1879	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.23|14.23	2.472950|2.472950	0.43942|0.43942	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.38560	.|1.13;1.13;1.13;1.13;1.13	6.16|6.16	5.0|5.0	0.66597|0.66597	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55114|0.55114	0.1900|0.1900	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	.|D;P	.|0.55385	.|0.971;0.871	.|P;P	.|0.62491	.|0.9;0.903	T|T	0.57248|0.57248	-0.7844|-0.7844	5|10	.|0.87932	.|D	.|0	-11.7473|-11.7473	12.4623|12.4623	0.55738|0.55738	0.0:0.065:0.0:0.935|0.0:0.065:0.0:0.935	.|.	.|594;627	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	L|F	435|627;627;627;594;136	.|ENSP00000375836:I627F;ENSP00000375837:I627F;ENSP00000312042:I627F;ENSP00000399139:I594F;ENSP00000388876:I136F	.|ENSP00000312042:I627F	H|I	-|-	2|1	0|0	HDLBP|HDLBP	241834911|241834911	1.000000|1.000000	0.71417|0.71417	0.015000|0.015000	0.15790|0.15790	0.045000|0.045000	0.14185|0.14185	7.971000|7.971000	0.88012|0.88012	1.141000|1.141000	0.42275|0.42275	0.528000|0.528000	0.53228|0.53228	CAT|ATT	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.468	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0.00	72	0	T	NM_203346		242186238	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	25.93	40	14	SNP	0.998	A
HECTD4	283450	genome.wustl.edu	37	12	112672926	112672926	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:112672926T>C	ENST00000430131.2	-	36	5749	c.4604A>G	c.(4603-4605)aAg>aGg	p.K1535R	HECTD4_ENST00000550722.1_Missense_Mutation_p.K1811R|HECTD4_ENST00000377560.5_Missense_Mutation_p.K1785R			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1535					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTCTTCCCGCTTGTGGATAAA	0.468																																																	0													130.0	131.0	131.0					12																	112672926		2030	4185	6215	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4604A>G	12.37:g.112672926T>C	ENSP00000404379:p.Lys1535Arg		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.K1785R	ENST00000430131.2	37	c.5354		12	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361110	0.82353	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.59638	0.25;0.27;0.25	6.03	6.03	0.97812	.	.	.	.	.	T	0.63295	0.2499	N	0.19112	0.55	0.58432	D	0.999998	P	0.52842	0.956	D	0.65010	0.931	T	0.68247	-0.5459	9	0.87932	D	0	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	1535	Q9Y4D8	K0614_HUMAN	R	1785;1535;1811	ENSP00000366783:K1785R;ENSP00000404379:K1535R;ENSP00000449784:K1811R	ENSP00000366783:K1785R	K	-	2	0	C12orf51	111157309	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.583000	0.82559	2.302000	0.77476	0.533000	0.62120	AAG	HECTD4	-	NULL	ENSG00000173064		0.468	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0.00	67	0	T	NM_173813		112672926	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	C
HECTD4	283450	genome.wustl.edu	37	12	112672926	112672926	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:112672926T>C	ENST00000430131.2	-	36	5749	c.4604A>G	c.(4603-4605)aAg>aGg	p.K1535R	HECTD4_ENST00000550722.1_Missense_Mutation_p.K1811R|HECTD4_ENST00000377560.5_Missense_Mutation_p.K1785R			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1535					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTCTTCCCGCTTGTGGATAAA	0.468																																																	0													130.0	131.0	131.0					12																	112672926		2030	4185	6215	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4604A>G	12.37:g.112672926T>C	ENSP00000404379:p.Lys1535Arg		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.K1785R	ENST00000430131.2	37	c.5354		12	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361110	0.82353	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.59638	0.25;0.27;0.25	6.03	6.03	0.97812	.	.	.	.	.	T	0.63295	0.2499	N	0.19112	0.55	0.58432	D	0.999998	P	0.52842	0.956	D	0.65010	0.931	T	0.68247	-0.5459	9	0.87932	D	0	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	1535	Q9Y4D8	K0614_HUMAN	R	1785;1535;1811	ENSP00000366783:K1785R;ENSP00000404379:K1535R;ENSP00000449784:K1811R	ENSP00000366783:K1785R	K	-	2	0	C12orf51	111157309	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.583000	0.82559	2.302000	0.77476	0.533000	0.62120	AAG	HECTD4	-	NULL	ENSG00000173064		0.468	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0.00	89	0	T	NM_173813		112672926	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	C
HECTD4	283450	genome.wustl.edu	37	12	112690287	112690287	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:112690287G>T	ENST00000430131.2	-	22	3372	c.2227C>A	c.(2227-2229)Cgt>Agt	p.R743S	HECTD4_ENST00000550722.1_Missense_Mutation_p.R1019S|HECTD4_ENST00000377560.5_Missense_Mutation_p.R993S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	743					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTGTGTTCACGGCCACTTCTC	0.438																																																	0													132.0	124.0	127.0					12																	112690287		2203	4300	6503	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2227C>A	12.37:g.112690287G>T	ENSP00000404379:p.Arg743Ser		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.R993S	ENST00000430131.2	37	c.2977		12	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708808	0.89018	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52057	0.68;0.69;0.84	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	N	0.14661	0.345	0.58432	D	0.999999	D;D;D	0.63046	0.992;0.987;0.992	D;D;D	0.70487	0.969;0.931;0.969	T	0.52510	-0.8566	10	0.33141	T	0.24	.	18.8376	0.92169	0.0:0.0:1.0:0.0	.	743;743;733	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	S	993;743;1019	ENSP00000366783:R993S;ENSP00000404379:R743S;ENSP00000449784:R1019S	ENSP00000366783:R993S	R	-	1	0	C12orf51	111174670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.476000	0.81055	2.705000	0.92388	0.585000	0.79938	CGT	HECTD4	-	NULL	ENSG00000173064		0.438	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding			0.00	65	0	G	NM_173813		112690287	-1			no_errors	ENST00000377560	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T
HERC1	8925	genome.wustl.edu	37	15	64005604	64005604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:64005604G>A	ENST00000443617.2	-	23	4498	c.4411C>T	c.(4411-4413)Cag>Tag	p.Q1471*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1471					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCTGCAACTGTCCTTCTTCT	0.478																																																	0													87.0	87.0	87.0					15																	64005604		2037	4174	6211	SO:0001587	stop_gained	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4411C>T	15.37:g.64005604G>A	ENSP00000390158:p.Gln1471*		Q8IW65	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.Q1471*	ENST00000443617.2	37	c.4411	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	42	9.793041	0.99266	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	.	.	.	5.23	5.23	0.72850	.	0.245400	0.34411	N	0.003995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.1604	0.93529	0.0:0.0:1.0:0.0	.	.	.	.	X	1471;455	.	ENSP00000389613:Q455X	Q	-	1	0	HERC1	61792657	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.278000	0.95766	2.599000	0.87857	0.655000	0.94253	CAG	HERC1	-	NULL	ENSG00000103657		0.478	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0.00	44	0	G	NM_003922		64005604	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	nonsense	18.18	26	6	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	64005604	64005604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:64005604G>A	ENST00000443617.2	-	23	4498	c.4411C>T	c.(4411-4413)Cag>Tag	p.Q1471*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1471					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCTGCAACTGTCCTTCTTCT	0.478																																																	0													87.0	87.0	87.0					15																	64005604		2037	4174	6211	SO:0001587	stop_gained	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4411C>T	15.37:g.64005604G>A	ENSP00000390158:p.Gln1471*		Q8IW65	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.Q1471*	ENST00000443617.2	37	c.4411	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	42	9.793041	0.99266	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	.	.	.	5.23	5.23	0.72850	.	0.245400	0.34411	N	0.003995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.1604	0.93529	0.0:0.0:1.0:0.0	.	.	.	.	X	1471;455	.	ENSP00000389613:Q455X	Q	-	1	0	HERC1	61792657	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.278000	0.95766	2.599000	0.87857	0.655000	0.94253	CAG	HERC1	-	NULL	ENSG00000103657		0.478	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0.00	54	0	G	NM_003922		64005604	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	nonsense	18.18	26	6	SNP	1.000	A
HERC2P4	100289574	genome.wustl.edu	37	16	32186860	32186860	+	IGR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:32186860G>T								HERC2P4 (3972 upstream) : RP11-17M15.1 (12793 downstream)																							CCAAATATTGGCCAACACAAA	0.483																																																	0																																										SO:0001628	intergenic_variant	0																															16.37:g.32186860G>T				RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P4	-	-	ENSG00000230267	0	0.483					HERC2P4	HGNC			-	0.00	127	0	G			32186860	-1	tier1	-	no_errors	ENST00000566591	ensembl	human	known	74_37	rna	19.15	76	18	SNP	1.000	T
HERC2P4	100289574	genome.wustl.edu	37	16	32186860	32186860	+	IGR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:32186860G>T								HERC2P4 (3972 upstream) : RP11-17M15.1 (12793 downstream)																							CCAAATATTGGCCAACACAAA	0.483																																																	0																																										SO:0001628	intergenic_variant	0																															16.37:g.32186860G>T				RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P4	-	-	ENSG00000230267	0	0.483					HERC2P4	HGNC			-	0.00	178	0	G			32186860	-1	tier1	-	no_errors	ENST00000566591	ensembl	human	known	74_37	rna	19.15	76	18	SNP	1.000	T
HFM1	164045	genome.wustl.edu	37	1	91816414	91816414	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:91816414A>C	ENST00000370425.3	-	18	2185	c.2087T>G	c.(2086-2088)cTt>cGt	p.L696R	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Missense_Mutation_p.L375R|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	696	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATGTTCAATAAGATGTCTGTG	0.323																																																	0													115.0	107.0	110.0					1																	91816414		1836	4086	5922	SO:0001583	missense	0			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2087T>G	1.37:g.91816414A>C	ENSP00000359454:p.Leu696Arg		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L696R	ENST00000370425.3	37	c.2087	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103786	0.76983	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421	T;T	0.62639	0.01;0.01	5.32	5.32	0.75619	Helicase, C-terminal (1);	0.000000	0.40554	U	0.001072	D	0.83871	0.5348	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.89625	0.3851	10	0.87932	D	0	.	15.5765	0.76392	1.0:0.0:0.0:0.0	.	375;696	A6NGI5;A2PYH4	.;HFM1_HUMAN	R	696;375;380	ENSP00000359454:L696R;ENSP00000359453:L375R	ENSP00000359450:L380R	L	-	2	0	HFM1	91589002	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.218000	0.95166	2.131000	0.65755	0.377000	0.23210	CTT	HFM1	-	pfscan_Helicase_C	ENSG00000162669		0.323	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	-	0.00	29	0	A	NM_001017975		91816414	-1	tier1	-	no_errors	ENST00000370425	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	C
HFM1	164045	genome.wustl.edu	37	1	91816414	91816414	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:91816414A>C	ENST00000370425.3	-	18	2185	c.2087T>G	c.(2086-2088)cTt>cGt	p.L696R	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Missense_Mutation_p.L375R|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	696	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATGTTCAATAAGATGTCTGTG	0.323																																																	0													115.0	107.0	110.0					1																	91816414		1836	4086	5922	SO:0001583	missense	0			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2087T>G	1.37:g.91816414A>C	ENSP00000359454:p.Leu696Arg		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L696R	ENST00000370425.3	37	c.2087	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103786	0.76983	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421	T;T	0.62639	0.01;0.01	5.32	5.32	0.75619	Helicase, C-terminal (1);	0.000000	0.40554	U	0.001072	D	0.83871	0.5348	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.89625	0.3851	10	0.87932	D	0	.	15.5765	0.76392	1.0:0.0:0.0:0.0	.	375;696	A6NGI5;A2PYH4	.;HFM1_HUMAN	R	696;375;380	ENSP00000359454:L696R;ENSP00000359453:L375R	ENSP00000359450:L380R	L	-	2	0	HFM1	91589002	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.218000	0.95166	2.131000	0.65755	0.377000	0.23210	CTT	HFM1	-	pfscan_Helicase_C	ENSG00000162669		0.323	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	-	0.00	54	0	A	NM_001017975		91816414	-1	tier1	-	no_errors	ENST00000370425	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	C
HFE2	148738	genome.wustl.edu	37	1	145415834	145415834	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:145415834G>A	ENST00000336751.5	+	3	891	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.R105Q	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	218					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCGCCACCCGGAAGGTCAGG	0.567																																																	0													89.0	93.0	92.0					1																	145415834		2203	4300	6503	SO:0001583	missense	0			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.653G>A	1.37:g.145415834G>A	ENSP00000337014:p.Arg218Gln		B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	pfam_RGM_N,pfam_RGM_C	p.R218Q	ENST00000336751.5	37	c.653	CCDS910.1	1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049299	0.36181	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.97352	-4.35;-4.35	4.32	4.32	0.51571	Repulsive guidance molecule, N-terminal (1);	0.153339	0.39985	N	0.001208	D	0.88377	0.6420	N	0.22421	0.69	0.80722	D	1	P	0.43578	0.811	B	0.33339	0.162	D	0.90164	0.4230	10	0.51188	T	0.08	-16.8334	10.2559	0.43397	0.0:0.2013:0.7987:0.0	.	218	Q6ZVN8	RGMC_HUMAN	Q	105;218	ENSP00000350495:R105Q;ENSP00000337014:R218Q	ENSP00000337014:R218Q	R	+	2	0	HFE2	144127191	0.995000	0.38212	0.998000	0.56505	0.541000	0.35023	2.400000	0.44504	2.237000	0.73441	0.558000	0.71614	CGG	HFE2	-	pfam_RGM_N	ENSG00000168509		0.567	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HFE2	HGNC	protein_coding	OTTHUMT00000038527.1	-	0.00	21	0	G	NM_145277		145415834	+1	tier1	-	no_errors	ENST00000336751	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.982	A
HFE2	148738	genome.wustl.edu	37	1	145415834	145415834	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:145415834G>A	ENST00000336751.5	+	3	891	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.R105Q	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	218					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCGCCACCCGGAAGGTCAGG	0.567																																																	0													89.0	93.0	92.0					1																	145415834		2203	4300	6503	SO:0001583	missense	0			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.653G>A	1.37:g.145415834G>A	ENSP00000337014:p.Arg218Gln		B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	pfam_RGM_N,pfam_RGM_C	p.R218Q	ENST00000336751.5	37	c.653	CCDS910.1	1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049299	0.36181	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.97352	-4.35;-4.35	4.32	4.32	0.51571	Repulsive guidance molecule, N-terminal (1);	0.153339	0.39985	N	0.001208	D	0.88377	0.6420	N	0.22421	0.69	0.80722	D	1	P	0.43578	0.811	B	0.33339	0.162	D	0.90164	0.4230	10	0.51188	T	0.08	-16.8334	10.2559	0.43397	0.0:0.2013:0.7987:0.0	.	218	Q6ZVN8	RGMC_HUMAN	Q	105;218	ENSP00000350495:R105Q;ENSP00000337014:R218Q	ENSP00000337014:R218Q	R	+	2	0	HFE2	144127191	0.995000	0.38212	0.998000	0.56505	0.541000	0.35023	2.400000	0.44504	2.237000	0.73441	0.558000	0.71614	CGG	HFE2	-	pfam_RGM_N	ENSG00000168509		0.567	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HFE2	HGNC	protein_coding	OTTHUMT00000038527.1	-	0.00	22	0	G	NM_145277		145415834	+1	tier1	-	no_errors	ENST00000336751	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.982	A
HIC2	23119	genome.wustl.edu	37	22	21800741	21800741	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:21800741G>T	ENST00000443632.2	+	2	1929	c.1557G>T	c.(1555-1557)acG>acT	p.T519T	HIC2_ENST00000407464.2_Silent_p.T519T|HIC2_ENST00000407598.2_Silent_p.T519T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	519					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACCCAGCCACGCTGCGGCAGC	0.637																																					NSCLC(23;437 858 2282 27947 40366)												0													56.0	57.0	57.0					22																	21800741		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1557G>T	22.37:g.21800741G>T			Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T519	ENST00000443632.2	37	c.1557	CCDS13789.1	22																																																																																			HIC2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169635		0.637	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC2	HGNC	protein_coding	OTTHUMT00000320061.2	-	0.00	105	0	G			21800741	+1	tier1	-	no_errors	ENST00000407464	ensembl	human	known	74_37	silent	21.05	45	12	SNP	0.281	T
HIC2	23119	genome.wustl.edu	37	22	21800741	21800741	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:21800741G>T	ENST00000443632.2	+	2	1929	c.1557G>T	c.(1555-1557)acG>acT	p.T519T	HIC2_ENST00000407464.2_Silent_p.T519T|HIC2_ENST00000407598.2_Silent_p.T519T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	519					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACCCAGCCACGCTGCGGCAGC	0.637																																					NSCLC(23;437 858 2282 27947 40366)												0													56.0	57.0	57.0					22																	21800741		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1557G>T	22.37:g.21800741G>T			Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T519	ENST00000443632.2	37	c.1557	CCDS13789.1	22																																																																																			HIC2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169635		0.637	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC2	HGNC	protein_coding	OTTHUMT00000320061.2	-	0.00	123	0	G			21800741	+1	tier1	-	no_errors	ENST00000407464	ensembl	human	known	74_37	silent	21.05	45	12	SNP	0.281	T
HIST1H2BI	8346	genome.wustl.edu	37	6	26273373	26273373	+	Missense_Mutation	SNP	C	C	G	rs544359637		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:26273373C>G	ENST00000377733.2	+	1	230	c.170C>G	c.(169-171)tCc>tGc	p.S57C	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	57					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						GGCATCTCGTCCAAGGCTATG	0.562																																																	0													209.0	199.0	202.0					6																	26273373		2203	4300	6503	SO:0001583	missense	0			Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.170C>G	6.37:g.26273373C>G	ENSP00000366962:p.Ser57Cys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S57C	ENST00000377733.2	37	c.170	CCDS4603.1	6	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432046	0.62844	.	.	ENSG00000168242	ENST00000377733	T	0.71934	-0.61	4.5	4.5	0.54988	.	.	.	.	.	D	0.88901	0.6563	H	0.98388	4.22	0.35755	D	0.819739	.	.	.	.	.	.	D	0.93772	0.7076	7	0.87932	D	0	.	15.8093	0.78543	0.0:1.0:0.0:0.0	.	.	.	.	C	57	ENSP00000366962:S57C	ENSP00000366962:S57C	S	+	2	0	HIST1H2BI	26381352	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	5.766000	0.68843	2.058000	0.61347	0.563000	0.77884	TCC	HIST1H2BI	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000168242		0.562	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BI	HGNC	protein_coding	OTTHUMT00000040111.1	-	0.00	153	0	C	NM_003525		26273373	+1	tier1	-	no_errors	ENST00000377733	ensembl	human	known	74_37	missense	24.35	145	47	SNP	1.000	G
HIST1H2BI	8346	genome.wustl.edu	37	6	26273373	26273373	+	Missense_Mutation	SNP	C	C	G	rs544359637		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:26273373C>G	ENST00000377733.2	+	1	230	c.170C>G	c.(169-171)tCc>tGc	p.S57C	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	57					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						GGCATCTCGTCCAAGGCTATG	0.562																																																	0													209.0	199.0	202.0					6																	26273373		2203	4300	6503	SO:0001583	missense	0			Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.170C>G	6.37:g.26273373C>G	ENSP00000366962:p.Ser57Cys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S57C	ENST00000377733.2	37	c.170	CCDS4603.1	6	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432046	0.62844	.	.	ENSG00000168242	ENST00000377733	T	0.71934	-0.61	4.5	4.5	0.54988	.	.	.	.	.	D	0.88901	0.6563	H	0.98388	4.22	0.35755	D	0.819739	.	.	.	.	.	.	D	0.93772	0.7076	7	0.87932	D	0	.	15.8093	0.78543	0.0:1.0:0.0:0.0	.	.	.	.	C	57	ENSP00000366962:S57C	ENSP00000366962:S57C	S	+	2	0	HIST1H2BI	26381352	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	5.766000	0.68843	2.058000	0.61347	0.563000	0.77884	TCC	HIST1H2BI	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000168242		0.562	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BI	HGNC	protein_coding	OTTHUMT00000040111.1	-	0.00	186	0	C	NM_003525		26273373	+1	tier1	-	no_errors	ENST00000377733	ensembl	human	known	74_37	missense	24.35	145	47	SNP	1.000	G
HLA-DQA2	3118	genome.wustl.edu	37	6	32713088	32713088	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:32713088A>C	ENST00000374940.3	+	2	337	c.235A>C	c.(235-237)Agt>Cgt	p.S79R		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	79	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CAAATTTATAAGTTTTGACCC	0.468																																																	0													130.0	128.0	128.0					6																	32713088		1511	2709	4220	SO:0001583	missense	0				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.235A>C	6.37:g.32713088A>C	ENSP00000364076:p.Ser79Arg		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S79R	ENST00000374940.3	37	c.235	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	3.275	-0.148273	0.06627	.	.	ENSG00000237541	ENST00000374940	T	0.00864	5.6	3.03	-4.88	0.03113	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	1.162740	0.06270	N	0.695516	T	0.00412	0.0013	L	0.49513	1.565	0.09310	N	1	B	0.16396	0.017	B	0.17433	0.018	T	0.32241	-0.9914	10	0.32370	T	0.25	.	9.694	0.40145	0.4294:0.0:0.5706:0.0	.	79	P01906	DQA2_HUMAN	R	79	ENSP00000364076:S79R	ENSP00000364076:S79R	S	+	1	0	HLA-DQA2	32821066	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.345000	0.07770	-1.192000	0.02691	-1.278000	0.01390	AGT	HLA-DQA2	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N	ENSG00000237541		0.468	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	-	0.00	102	0	A	NM_020056		32713088	+1	tier1	-	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.001	C
HLA-DQA2	3118	genome.wustl.edu	37	6	32713088	32713088	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:32713088A>C	ENST00000374940.3	+	2	337	c.235A>C	c.(235-237)Agt>Cgt	p.S79R		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	79	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CAAATTTATAAGTTTTGACCC	0.468																																																	0													130.0	128.0	128.0					6																	32713088		1511	2709	4220	SO:0001583	missense	0				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.235A>C	6.37:g.32713088A>C	ENSP00000364076:p.Ser79Arg		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S79R	ENST00000374940.3	37	c.235	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	3.275	-0.148273	0.06627	.	.	ENSG00000237541	ENST00000374940	T	0.00864	5.6	3.03	-4.88	0.03113	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	1.162740	0.06270	N	0.695516	T	0.00412	0.0013	L	0.49513	1.565	0.09310	N	1	B	0.16396	0.017	B	0.17433	0.018	T	0.32241	-0.9914	10	0.32370	T	0.25	.	9.694	0.40145	0.4294:0.0:0.5706:0.0	.	79	P01906	DQA2_HUMAN	R	79	ENSP00000364076:S79R	ENSP00000364076:S79R	S	+	1	0	HLA-DQA2	32821066	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.345000	0.07770	-1.192000	0.02691	-1.278000	0.01390	AGT	HLA-DQA2	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N	ENSG00000237541		0.468	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	-	0.00	91	0	A	NM_020056		32713088	+1	tier1	-	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.001	C
HMCN1	83872	genome.wustl.edu	37	1	185988735	185988735	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:185988735G>A	ENST00000271588.4	+	35	5762	c.5533G>A	c.(5533-5535)Gcc>Acc	p.A1845T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1845T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1845	Ig-like C2-type 16.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAGCCTGTCGCCTTGCAGTG	0.438																																																	0													113.0	107.0	109.0					1																	185988735		2203	4299	6502	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5533G>A	1.37:g.185988735G>A	ENSP00000271588:p.Ala1845Thr		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A1845T	ENST00000271588.4	37	c.5533	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	2.719	-0.267043	0.05754	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	5.56	3.24	0.37175	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.140928	0.64402	N	0.000006	T	0.21103	0.0508	N	0.00308	-1.67	0.23731	N	0.996992	B	0.06786	0.001	B	0.01281	0.0	T	0.36237	-0.9756	10	0.02654	T	1	.	9.8489	0.41043	0.8607:0.0:0.1393:0.0	.	1845	Q96RW7	HMCN1_HUMAN	T	1845	ENSP00000271588:A1845T;ENSP00000356462:A1845T	ENSP00000271588:A1845T	A	+	1	0	HMCN1	184255358	0.956000	0.32656	0.896000	0.35187	0.467000	0.32768	4.548000	0.60718	0.402000	0.25451	-0.247000	0.11927	GCC	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	48	0	G	NM_031935		185988735	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	41.82	32	23	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	185988735	185988735	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:185988735G>A	ENST00000271588.4	+	35	5762	c.5533G>A	c.(5533-5535)Gcc>Acc	p.A1845T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1845T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1845	Ig-like C2-type 16.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAGCCTGTCGCCTTGCAGTG	0.438																																																	0													113.0	107.0	109.0					1																	185988735		2203	4299	6502	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5533G>A	1.37:g.185988735G>A	ENSP00000271588:p.Ala1845Thr		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A1845T	ENST00000271588.4	37	c.5533	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	2.719	-0.267043	0.05754	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	5.56	3.24	0.37175	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.140928	0.64402	N	0.000006	T	0.21103	0.0508	N	0.00308	-1.67	0.23731	N	0.996992	B	0.06786	0.001	B	0.01281	0.0	T	0.36237	-0.9756	10	0.02654	T	1	.	9.8489	0.41043	0.8607:0.0:0.1393:0.0	.	1845	Q96RW7	HMCN1_HUMAN	T	1845	ENSP00000271588:A1845T;ENSP00000356462:A1845T	ENSP00000271588:A1845T	A	+	1	0	HMCN1	184255358	0.956000	0.32656	0.896000	0.35187	0.467000	0.32768	4.548000	0.60718	0.402000	0.25451	-0.247000	0.11927	GCC	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	65	0	G	NM_031935		185988735	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	41.82	32	23	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	186083996	186083996	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:186083996T>C	ENST00000271588.4	+	74	11551	c.11322T>C	c.(11320-11322)caT>caC	p.H3774H	HMCN1_ENST00000367492.2_Silent_p.H3774H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3774	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATCAGCACATGTCACTGACA	0.398																																																	0													167.0	163.0	164.0					1																	186083996		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11322T>C	1.37:g.186083996T>C			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.H3774	ENST00000271588.4	37	c.11322	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	59	0	T	NM_031935		186083996	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	6.25	75	5	SNP	0.784	C
HMCN1	83872	genome.wustl.edu	37	1	186083996	186083996	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:186083996T>C	ENST00000271588.4	+	74	11551	c.11322T>C	c.(11320-11322)caT>caC	p.H3774H	HMCN1_ENST00000367492.2_Silent_p.H3774H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3774	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATCAGCACATGTCACTGACA	0.398																																																	0													167.0	163.0	164.0					1																	186083996		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11322T>C	1.37:g.186083996T>C			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.H3774	ENST00000271588.4	37	c.11322	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	77	0	T	NM_031935		186083996	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	6.25	75	5	SNP	0.784	C
HNRNPUL1	11100	genome.wustl.edu	37	19	41777994	41777994	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:41777994G>T	ENST00000392006.3	+	3	599	c.426G>T	c.(424-426)aaG>aaT	p.K142N	HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.K53N|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.K142N|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.K42N|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.K42N|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.K42N|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.K99N	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	142					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TAGAAATGAAGACAGAGATGA	0.498																																																	0													111.0	115.0	113.0					19																	41777994		2203	4300	6503	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.426G>T	19.37:g.41777994G>T	ENSP00000375863:p.Lys142Asn		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.K142N	ENST00000392006.3	37	c.426	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850032	0.51270	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;D;T;D	0.92048	0.76;-2.96;1.42;-2.93	5.97	2.7	0.31948	.	0.463572	0.24256	N	0.040127	D	0.91321	0.7263	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.65815	0.991;0.995;0.995;0.991;0.995	P;D;D;P;P	0.63877	0.766;0.919;0.919;0.831;0.882	D	0.90143	0.4215	10	0.66056	D	0.02	-24.9644	8.9948	0.36045	0.2918:0.0:0.7082:0.0	.	42;142;99;142;42	A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;HNRL1_HUMAN;.	N	42;142;99;53	ENSP00000340857:K42N;ENSP00000375863:K142N;ENSP00000367460:K99N;ENSP00000263367:K53N	ENSP00000263367:K53N	K	+	3	2	HNRNPUL1	46469834	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.261000	0.58841	0.874000	0.35823	-0.229000	0.12294	AAG	HNRNPUL1	-	NULL	ENSG00000105323		0.498	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	-	0.00	58	0	G	NM_144732, NM_007040		41777994	+1	tier1	-	no_errors	ENST00000392006	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
HNRNPUL1	11100	genome.wustl.edu	37	19	41777994	41777994	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:41777994G>T	ENST00000392006.3	+	3	599	c.426G>T	c.(424-426)aaG>aaT	p.K142N	HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.K53N|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.K142N|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.K42N|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.K42N|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.K42N|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.K99N	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	142					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TAGAAATGAAGACAGAGATGA	0.498																																																	0													111.0	115.0	113.0					19																	41777994		2203	4300	6503	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.426G>T	19.37:g.41777994G>T	ENSP00000375863:p.Lys142Asn		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.K142N	ENST00000392006.3	37	c.426	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850032	0.51270	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;D;T;D	0.92048	0.76;-2.96;1.42;-2.93	5.97	2.7	0.31948	.	0.463572	0.24256	N	0.040127	D	0.91321	0.7263	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.65815	0.991;0.995;0.995;0.991;0.995	P;D;D;P;P	0.63877	0.766;0.919;0.919;0.831;0.882	D	0.90143	0.4215	10	0.66056	D	0.02	-24.9644	8.9948	0.36045	0.2918:0.0:0.7082:0.0	.	42;142;99;142;42	A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;HNRL1_HUMAN;.	N	42;142;99;53	ENSP00000340857:K42N;ENSP00000375863:K142N;ENSP00000367460:K99N;ENSP00000263367:K53N	ENSP00000263367:K53N	K	+	3	2	HNRNPUL1	46469834	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.261000	0.58841	0.874000	0.35823	-0.229000	0.12294	AAG	HNRNPUL1	-	NULL	ENSG00000105323		0.498	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	-	0.00	78	0	G	NM_144732, NM_007040		41777994	+1	tier1	-	no_errors	ENST00000392006	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
HORMAD1	84072	genome.wustl.edu	37	1	150691959	150691959	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:150691959C>G	ENST00000361824.2	-	2	128	c.23G>C	c.(22-24)aGg>aCg	p.R8T	HORMAD1_ENST00000368995.4_5'UTR|HORMAD1_ENST00000368993.2_Missense_Mutation_p.R8T|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R8T|HORMAD1_ENST00000476530.1_5'UTR	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	8					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CATGGGAGTCCTCTGCAACTG	0.353																																																	0													109.0	111.0	110.0					1																	150691959		2203	4299	6502	SO:0001583	missense	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.23G>C	1.37:g.150691959C>G	ENSP00000355167:p.Arg8Thr		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.R8T	ENST00000361824.2	37	c.23	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907683	0.52333	.	.	ENSG00000143452	ENST00000368993;ENST00000322343;ENST00000361824	T;T;T	0.36157	1.27;1.29;1.27	5.91	5.0	0.66597	.	0.209202	0.45126	D	0.000398	T	0.31263	0.0791	M	0.65498	2.005	0.38002	D	0.934272	P;P	0.45474	0.779;0.859	B;P	0.47346	0.369;0.544	T	0.28839	-1.0031	10	0.66056	D	0.02	-8.649	11.0043	0.47624	0.0:0.9153:0.0:0.0847	.	8;8	Q86X24-2;Q86X24	.;HORM1_HUMAN	T	8	ENSP00000357989:R8T;ENSP00000326489:R8T;ENSP00000355167:R8T	ENSP00000326489:R8T	R	-	2	0	HORMAD1	148958583	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.860000	0.48372	1.509000	0.48786	-0.136000	0.14681	AGG	HORMAD1	-	NULL	ENSG00000143452		0.353	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	-	0.00	53	0	C	NM_032132		150691959	-1	tier1	-	no_errors	ENST00000361824	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	G
HORMAD1	84072	genome.wustl.edu	37	1	150691959	150691959	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:150691959C>G	ENST00000361824.2	-	2	128	c.23G>C	c.(22-24)aGg>aCg	p.R8T	HORMAD1_ENST00000368995.4_5'UTR|HORMAD1_ENST00000368993.2_Missense_Mutation_p.R8T|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R8T|HORMAD1_ENST00000476530.1_5'UTR	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	8					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CATGGGAGTCCTCTGCAACTG	0.353																																																	0													109.0	111.0	110.0					1																	150691959		2203	4299	6502	SO:0001583	missense	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.23G>C	1.37:g.150691959C>G	ENSP00000355167:p.Arg8Thr		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.R8T	ENST00000361824.2	37	c.23	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907683	0.52333	.	.	ENSG00000143452	ENST00000368993;ENST00000322343;ENST00000361824	T;T;T	0.36157	1.27;1.29;1.27	5.91	5.0	0.66597	.	0.209202	0.45126	D	0.000398	T	0.31263	0.0791	M	0.65498	2.005	0.38002	D	0.934272	P;P	0.45474	0.779;0.859	B;P	0.47346	0.369;0.544	T	0.28839	-1.0031	10	0.66056	D	0.02	-8.649	11.0043	0.47624	0.0:0.9153:0.0:0.0847	.	8;8	Q86X24-2;Q86X24	.;HORM1_HUMAN	T	8	ENSP00000357989:R8T;ENSP00000326489:R8T;ENSP00000355167:R8T	ENSP00000326489:R8T	R	-	2	0	HORMAD1	148958583	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.860000	0.48372	1.509000	0.48786	-0.136000	0.14681	AGG	HORMAD1	-	NULL	ENSG00000143452		0.353	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	-	0.00	64	0	C	NM_032132		150691959	-1	tier1	-	no_errors	ENST00000361824	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	G
HOXB2	3212	genome.wustl.edu	37	17	46622245	46622245	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:46622245C>T	ENST00000330070.4	-	1	1196	c.29G>A	c.(28-30)gGg>gAg	p.G10E	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000508688.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	10					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GTTTATAAACCCAATCTCCCT	0.537																																																	0													41.0	47.0	45.0					17																	46622245		2203	4300	6503	SO:0001583	missense	0				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.29G>A	17.37:g.46622245C>T	ENSP00000331741:p.Gly10Glu		P10913|P17485	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G10E	ENST00000330070.4	37	c.29	CCDS11527.1	17	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960919	0.92791	.	.	ENSG00000173917	ENST00000330070	D	0.91464	-2.85	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.93236	0.7845	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93963	0.7242	10	0.87932	D	0	.	16.8006	0.85613	0.0:1.0:0.0:0.0	.	10	P14652	HXB2_HUMAN	E	10	ENSP00000331741:G10E	ENSP00000331741:G10E	G	-	2	0	HOXB2	43977244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.197000	0.77814	2.560000	0.86352	0.650000	0.86243	GGG	HOXB2	-	NULL	ENSG00000173917		0.537	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB2	HGNC	protein_coding	OTTHUMT00000358384.2	-	0.00	251	0	C			46622245	-1	tier1	-	no_errors	ENST00000330070	ensembl	human	known	74_37	missense	18.52	132	30	SNP	1.000	T
HOXB2	3212	genome.wustl.edu	37	17	46622245	46622245	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:46622245C>T	ENST00000330070.4	-	1	1196	c.29G>A	c.(28-30)gGg>gAg	p.G10E	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000508688.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	10					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GTTTATAAACCCAATCTCCCT	0.537																																																	0													41.0	47.0	45.0					17																	46622245		2203	4300	6503	SO:0001583	missense	0				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.29G>A	17.37:g.46622245C>T	ENSP00000331741:p.Gly10Glu		P10913|P17485	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G10E	ENST00000330070.4	37	c.29	CCDS11527.1	17	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960919	0.92791	.	.	ENSG00000173917	ENST00000330070	D	0.91464	-2.85	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.93236	0.7845	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93963	0.7242	10	0.87932	D	0	.	16.8006	0.85613	0.0:1.0:0.0:0.0	.	10	P14652	HXB2_HUMAN	E	10	ENSP00000331741:G10E	ENSP00000331741:G10E	G	-	2	0	HOXB2	43977244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.197000	0.77814	2.560000	0.86352	0.650000	0.86243	GGG	HOXB2	-	NULL	ENSG00000173917		0.537	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB2	HGNC	protein_coding	OTTHUMT00000358384.2	-	0.00	266	0	C			46622245	-1	tier1	-	no_errors	ENST00000330070	ensembl	human	known	74_37	missense	18.52	132	30	SNP	1.000	T
HRNR	388697	genome.wustl.edu	37	1	152191663	152191663	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152191663A>C	ENST00000368801.2	-	3	2517	c.2442T>G	c.(2440-2442)gcT>gcG	p.A814A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	814					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAACCAGAAGCCTGGCCTG	0.567																																																	0													69.0	75.0	73.0					1																	152191663		2203	4300	6503	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2442T>G	1.37:g.152191663A>C			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.A814	ENST00000368801.2	37	c.2442	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0.00	126	0	A	XM_373868		152191663	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	5.15	92	5	SNP	0.008	C
HRNR	388697	genome.wustl.edu	37	1	152191663	152191663	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152191663A>C	ENST00000368801.2	-	3	2517	c.2442T>G	c.(2440-2442)gcT>gcG	p.A814A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	814					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAACCAGAAGCCTGGCCTG	0.567																																																	0													69.0	75.0	73.0					1																	152191663		2203	4300	6503	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2442T>G	1.37:g.152191663A>C			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.A814	ENST00000368801.2	37	c.2442	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0.00	93	0	A	XM_373868		152191663	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	5.15	92	5	SNP	0.008	C
HSD17B14	51171	genome.wustl.edu	37	19	49335011	49335011	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:49335011G>T	ENST00000263278.4	-	5	549	c.283C>A	c.(283-285)Ccc>Acc	p.P95T	HSD17B14_ENST00000599157.1_Intron	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	95					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CTCTGTGGGGGTGGGTCTAAA	0.622																																																	0													39.0	42.0	41.0					19																	49335011		2203	4300	6503	SO:0001583	missense	0			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.283C>A	19.37:g.49335011G>T	ENSP00000263278:p.Pro95Thr		Q9UKU3	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.P95T	ENST00000263278.4	37	c.283	CCDS12736.1	19	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183804	0.38609	.	.	ENSG00000087076	ENST00000263278	T	0.21932	1.98	4.26	2.0	0.26442	NAD(P)-binding domain (1);	0.280930	0.33712	N	0.004629	T	0.21145	0.0509	L	0.33668	1.02	0.09310	N	1	D	0.59357	0.985	P	0.53035	0.716	T	0.14062	-1.0486	10	0.15952	T	0.53	.	10.5435	0.45047	0.0:0.383:0.617:0.0	.	95	Q9BPX1	DHB14_HUMAN	T	95	ENSP00000263278:P95T	ENSP00000263278:P95T	P	-	1	0	HSD17B14	54026823	0.549000	0.26481	0.044000	0.18714	0.012000	0.07955	2.743000	0.47442	0.516000	0.28340	-0.310000	0.09108	CCC	HSD17B14	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase	ENSG00000087076		0.622	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B14	HGNC	protein_coding	OTTHUMT00000466212.1		0.00	79	0	G	NM_016246		49335011	-1			no_errors	ENST00000263278	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.017	T
HYDIN	54768	genome.wustl.edu	37	16	70993683	70993683	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:70993683T>G	ENST00000393567.2	-	39	6159	c.6009A>C	c.(6007-6009)gaA>gaC	p.E2003D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2003					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTCTCCAACTTCCTCCATGG	0.502																																																	0													14.0	19.0	17.0					16																	70993683		1788	4030	5818	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6009A>C	16.37:g.70993683T>G	ENSP00000377197:p.Glu2003Asp		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.E2003D	ENST00000393567.2	37	c.6009	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	11.14	1.551464	0.27739	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.41758	0.99	4.6	0.387	0.16259	.	0.378731	0.15090	U	0.281112	T	0.36166	0.0957	L	0.27053	0.805	0.80722	D	1	D	0.61697	0.99	P	0.56216	0.794	T	0.17471	-1.0368	10	0.29301	T	0.29	.	5.0536	0.14522	0.0:0.3689:0.1555:0.4756	.	2002	F8WD23	.	D	2003;2002	ENSP00000377197:E2003D	ENSP00000310485:E294D	E	-	3	2	HYDIN	69551184	0.333000	0.24731	0.622000	0.29159	0.254000	0.26022	-0.886000	0.04157	-0.198000	0.10333	0.413000	0.27773	GAA	HYDIN	-	NULL	ENSG00000157423		0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0.00	33	0	T			70993683	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	20.00	20	5	SNP	0.990	G
HYDIN	54768	genome.wustl.edu	37	16	70993683	70993683	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:70993683T>G	ENST00000393567.2	-	39	6159	c.6009A>C	c.(6007-6009)gaA>gaC	p.E2003D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2003					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTCTCCAACTTCCTCCATGG	0.502																																																	0													14.0	19.0	17.0					16																	70993683		1788	4030	5818	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6009A>C	16.37:g.70993683T>G	ENSP00000377197:p.Glu2003Asp		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.E2003D	ENST00000393567.2	37	c.6009	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	11.14	1.551464	0.27739	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.41758	0.99	4.6	0.387	0.16259	.	0.378731	0.15090	U	0.281112	T	0.36166	0.0957	L	0.27053	0.805	0.80722	D	1	D	0.61697	0.99	P	0.56216	0.794	T	0.17471	-1.0368	10	0.29301	T	0.29	.	5.0536	0.14522	0.0:0.3689:0.1555:0.4756	.	2002	F8WD23	.	D	2003;2002	ENSP00000377197:E2003D	ENSP00000310485:E294D	E	-	3	2	HYDIN	69551184	0.333000	0.24731	0.622000	0.29159	0.254000	0.26022	-0.886000	0.04157	-0.198000	0.10333	0.413000	0.27773	GAA	HYDIN	-	NULL	ENSG00000157423		0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0.00	39	0	T			70993683	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	20.00	20	5	SNP	0.990	G
HYOU1	10525	genome.wustl.edu	37	11	118922539	118922539	+	Missense_Mutation	SNP	G	G	A	rs375666355		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:118922539G>A	ENST00000404233.3	-	12	1454	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	HYOU1_ENST00000525859.1_Missense_Mutation_p.P444S|HYOU1_ENST00000529972.1_Missense_Mutation_p.P444S|HYOU1_ENST00000543287.1_Missense_Mutation_p.P357S	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	444					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACCAGGATGGGGTAGACCACT	0.557																																																	0								G	SER/PRO,SER/PRO	1,4399	2.1+/-5.4	0,1,2199	108.0	96.0	100.0		1330,1330	5.0	1.0	11		100	0,8590		0,0,4295	no	missense,missense	HYOU1	NM_001130991.1,NM_006389.3	74,74	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	444/1000,444/1000	118922539	1,12989	2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1330C>T	11.37:g.118922539G>A	ENSP00000384144:p.Pro444Ser		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P444S	ENST00000404233.3	37	c.1330	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443991	0.83993	2.27E-4	0.0	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.00627	6.12;6.12;6.12;6.12;6.12	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.01765	0.0056	L	0.38175	1.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;1.0;0.996;0.996	T	0.80120	-0.1515	10	0.20046	T	0.44	-20.6363	14.1222	0.65195	0.0748:0.0:0.9252:0.0	.	435;488;444;444	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	S	444;435;444;444;293;444;487;357;444	ENSP00000384144:P444S;ENSP00000437313:P444S;ENSP00000433397:P444S;ENSP00000442727:P357S;ENSP00000431874:P444S	ENSP00000278752:P435S	P	-	1	0	HYOU1	118427749	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.365000	0.79537	2.735000	0.93741	0.655000	0.94253	CCC	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.557	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0.00	72	0	G	NM_006389		118922539	-1	tier1	-	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	A
HYOU1	10525	genome.wustl.edu	37	11	118922539	118922539	+	Missense_Mutation	SNP	G	G	A	rs375666355		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:118922539G>A	ENST00000404233.3	-	12	1454	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	HYOU1_ENST00000525859.1_Missense_Mutation_p.P444S|HYOU1_ENST00000529972.1_Missense_Mutation_p.P444S|HYOU1_ENST00000543287.1_Missense_Mutation_p.P357S	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	444					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACCAGGATGGGGTAGACCACT	0.557																																																	0								G	SER/PRO,SER/PRO	1,4399	2.1+/-5.4	0,1,2199	108.0	96.0	100.0		1330,1330	5.0	1.0	11		100	0,8590		0,0,4295	no	missense,missense	HYOU1	NM_001130991.1,NM_006389.3	74,74	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	444/1000,444/1000	118922539	1,12989	2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1330C>T	11.37:g.118922539G>A	ENSP00000384144:p.Pro444Ser		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P444S	ENST00000404233.3	37	c.1330	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443991	0.83993	2.27E-4	0.0	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.00627	6.12;6.12;6.12;6.12;6.12	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.01765	0.0056	L	0.38175	1.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;1.0;0.996;0.996	T	0.80120	-0.1515	10	0.20046	T	0.44	-20.6363	14.1222	0.65195	0.0748:0.0:0.9252:0.0	.	435;488;444;444	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	S	444;435;444;444;293;444;487;357;444	ENSP00000384144:P444S;ENSP00000437313:P444S;ENSP00000433397:P444S;ENSP00000442727:P357S;ENSP00000431874:P444S	ENSP00000278752:P435S	P	-	1	0	HYOU1	118427749	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.365000	0.79537	2.735000	0.93741	0.655000	0.94253	CCC	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.557	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0.00	79	0	G	NM_006389		118922539	-1	tier1	-	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	A
IBSP	3381	genome.wustl.edu	37	4	88731763	88731763	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:88731763T>G	ENST00000226284.5	+	6	319	c.252T>G	c.(250-252)acT>acG	p.T84T		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	84	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AACAGGAGACTTCAAATGAAG	0.348																																																	0													62.0	66.0	65.0					4																	88731763		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.252T>G	4.37:g.88731763T>G				Silent	SNP	pfam_BSP_II	p.T84	ENST00000226284.5	37	c.252	CCDS3624.1	4																																																																																			IBSP	-	pfam_BSP_II	ENSG00000029559		0.348	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2	-	0.00	100	0	T			88731763	+1	tier1	-	no_errors	ENST00000226284	ensembl	human	known	74_37	silent	30.49	57	25	SNP	1.000	G
IBSP	3381	genome.wustl.edu	37	4	88731763	88731763	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:88731763T>G	ENST00000226284.5	+	6	319	c.252T>G	c.(250-252)acT>acG	p.T84T		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	84	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AACAGGAGACTTCAAATGAAG	0.348																																																	0													62.0	66.0	65.0					4																	88731763		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.252T>G	4.37:g.88731763T>G				Silent	SNP	pfam_BSP_II	p.T84	ENST00000226284.5	37	c.252	CCDS3624.1	4																																																																																			IBSP	-	pfam_BSP_II	ENSG00000029559		0.348	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2	-	0.00	79	0	T			88731763	+1	tier1	-	no_errors	ENST00000226284	ensembl	human	known	74_37	silent	30.49	57	25	SNP	1.000	G
IGSF1	3547	genome.wustl.edu	37	X	130417080	130417080	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:130417080T>G	ENST00000361420.3	-	6	905	c.826A>C	c.(826-828)Aaa>Caa	p.K276Q	IGSF1_ENST00000370903.3_Missense_Mutation_p.K276Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.K267Q|IGSF1_ENST00000370904.1_Missense_Mutation_p.K267Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	276	Ig-like C2-type 3.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.K276Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCCTCATTTTTTATTGTCTTC	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											112.0	97.0	102.0					X																	130417080		2203	4300	6503	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.826A>C	X.37:g.130417080T>G	ENSP00000355010:p.Lys276Gln		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K276Q	ENST00000361420.3	37	c.826	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	T	7.935	0.741582	0.15642	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00686	5.85;5.85;5.85;5.85	4.64	3.39	0.38822	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.502564	0.17086	N	0.187588	T	0.00524	0.0017	N	0.05306	-0.075	0.23754	N	0.996937	B;P	0.35493	0.277;0.505	B;B	0.39617	0.155;0.305	T	0.52193	-0.8608	10	0.12103	T	0.63	.	6.9188	0.24376	0.0:0.0:0.2329:0.7671	.	267;276	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	Q	267;276;267;276	ENSP00000359947:K267Q;ENSP00000355010:K276Q;ENSP00000359941:K267Q;ENSP00000359940:K276Q	ENSP00000355010:K276Q	K	-	1	0	IGSF1	130244761	0.926000	0.31397	0.985000	0.45067	0.805000	0.45488	1.299000	0.33424	1.846000	0.53633	0.481000	0.45027	AAA	IGSF1	-	smart_Ig_sub	ENSG00000147255		0.403	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	-	0.00	37	0	T			130417080	-1	tier1	-	no_errors	ENST00000370903	ensembl	human	known	74_37	missense	69.77	13	30	SNP	0.576	G
IGSF1	3547	genome.wustl.edu	37	X	130417080	130417080	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:130417080T>G	ENST00000361420.3	-	6	905	c.826A>C	c.(826-828)Aaa>Caa	p.K276Q	IGSF1_ENST00000370903.3_Missense_Mutation_p.K276Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.K267Q|IGSF1_ENST00000370904.1_Missense_Mutation_p.K267Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	276	Ig-like C2-type 3.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.K276Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCCTCATTTTTTATTGTCTTC	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											112.0	97.0	102.0					X																	130417080		2203	4300	6503	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.826A>C	X.37:g.130417080T>G	ENSP00000355010:p.Lys276Gln		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K276Q	ENST00000361420.3	37	c.826	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	T	7.935	0.741582	0.15642	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00686	5.85;5.85;5.85;5.85	4.64	3.39	0.38822	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.502564	0.17086	N	0.187588	T	0.00524	0.0017	N	0.05306	-0.075	0.23754	N	0.996937	B;P	0.35493	0.277;0.505	B;B	0.39617	0.155;0.305	T	0.52193	-0.8608	10	0.12103	T	0.63	.	6.9188	0.24376	0.0:0.0:0.2329:0.7671	.	267;276	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	Q	267;276;267;276	ENSP00000359947:K267Q;ENSP00000355010:K276Q;ENSP00000359941:K267Q;ENSP00000359940:K276Q	ENSP00000355010:K276Q	K	-	1	0	IGSF1	130244761	0.926000	0.31397	0.985000	0.45067	0.805000	0.45488	1.299000	0.33424	1.846000	0.53633	0.481000	0.45027	AAA	IGSF1	-	smart_Ig_sub	ENSG00000147255		0.403	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	-	0.00	63	0	T			130417080	-1	tier1	-	no_errors	ENST00000370903	ensembl	human	known	74_37	missense	69.77	13	30	SNP	0.576	G
IGSF10	285313	genome.wustl.edu	37	3	151165478	151165478	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:151165478T>G	ENST00000282466.3	-	4	2290	c.2291A>C	c.(2290-2292)aAa>aCa	p.K764T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	764					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCATTCTTTTTAGCTTTCTC	0.493																																																	0													83.0	77.0	79.0					3																	151165478		2203	4300	6503	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2291A>C	3.37:g.151165478T>G	ENSP00000282466:p.Lys764Thr		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.K764T	ENST00000282466.3	37	c.2291	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840045	0.71488	.	.	ENSG00000152580	ENST00000282466	T	0.73047	-0.71	5.41	4.26	0.50523	.	0.000000	0.50627	D	0.000102	T	0.80623	0.4658	M	0.68952	2.095	0.40159	D	0.977048	D	0.89917	1.0	D	0.74674	0.984	T	0.81258	-0.1014	10	0.59425	D	0.04	.	10.8621	0.46833	0.0:0.0737:0.0:0.9263	.	764	Q6WRI0	IGS10_HUMAN	T	764	ENSP00000282466:K764T	ENSP00000282466:K764T	K	-	2	0	IGSF10	152648168	1.000000	0.71417	0.978000	0.43139	0.715000	0.41141	2.122000	0.41987	0.905000	0.36596	0.482000	0.46254	AAA	IGSF10	-	NULL	ENSG00000152580		0.493	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0.00	53	0	T	NM_178822		151165478	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	G
IGSF10	285313	genome.wustl.edu	37	3	151165478	151165478	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:151165478T>G	ENST00000282466.3	-	4	2290	c.2291A>C	c.(2290-2292)aAa>aCa	p.K764T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	764					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCATTCTTTTTAGCTTTCTC	0.493																																																	0													83.0	77.0	79.0					3																	151165478		2203	4300	6503	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2291A>C	3.37:g.151165478T>G	ENSP00000282466:p.Lys764Thr		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.K764T	ENST00000282466.3	37	c.2291	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840045	0.71488	.	.	ENSG00000152580	ENST00000282466	T	0.73047	-0.71	5.41	4.26	0.50523	.	0.000000	0.50627	D	0.000102	T	0.80623	0.4658	M	0.68952	2.095	0.40159	D	0.977048	D	0.89917	1.0	D	0.74674	0.984	T	0.81258	-0.1014	10	0.59425	D	0.04	.	10.8621	0.46833	0.0:0.0737:0.0:0.9263	.	764	Q6WRI0	IGS10_HUMAN	T	764	ENSP00000282466:K764T	ENSP00000282466:K764T	K	-	2	0	IGSF10	152648168	1.000000	0.71417	0.978000	0.43139	0.715000	0.41141	2.122000	0.41987	0.905000	0.36596	0.482000	0.46254	AAA	IGSF10	-	NULL	ENSG00000152580		0.493	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0.00	61	0	T	NM_178822		151165478	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	G
IL1RL1	9173	genome.wustl.edu	37	2	102959851	102959851	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:102959851G>A	ENST00000233954.1	+	8	1217	c.946G>A	c.(946-948)Gta>Ata	p.V316I	IL1RL1_ENST00000404917.2_Missense_Mutation_p.V199I|IL1RL1_ENST00000311734.2_Missense_Mutation_p.V316I|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V302I	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	316	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AAGGCACACCGTAAGACTAAG	0.433																																																	0													171.0	160.0	164.0					2																	102959851		2203	4300	6503	SO:0001583	missense	0			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.946G>A	2.37:g.102959851G>A	ENSP00000233954:p.Val316Ile		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom	p.V316I	ENST00000233954.1	37	c.946	CCDS2057.1	2	.	.	.	.	.	.	.	.	.	.	G	5.361	0.251949	0.10185	.	.	ENSG00000115602	ENST00000233954;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.19	-9.04	0.00734	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.145470	0.06185	N	0.680197	T	0.03434	0.0099	N	0.03224	-0.385	0.09310	N	0.999999	B;B;B	0.17667	0.023;0.017;0.006	B;B;B	0.12156	0.007;0.007;0.004	T	0.36529	-0.9744	10	0.10111	T	0.7	.	2.9918	0.05986	0.2561:0.2373:0.3907:0.116	.	199;316;316	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	I	316;199;316;302	ENSP00000233954:V316I;ENSP00000384822:V199I;ENSP00000310371:V316I;ENSP00000386618:V302I	ENSP00000233954:V316I	V	+	1	0	IL1RL1	102326283	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-3.152000	0.00581	-1.239000	0.02532	-0.324000	0.08512	GTA	IL1RL1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000115602		0.433	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL1	HGNC	protein_coding	OTTHUMT00000253296.1	-	0.00	41	0	G	NM_016232		102959851	+1	tier1	-	no_errors	ENST00000233954	ensembl	human	known	74_37	missense	19.15	38	9	SNP	0.000	A
INCENP	3619	genome.wustl.edu	37	11	61896307	61896307	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:61896307G>A	ENST00000394818.3	+	3	408	c.206G>A	c.(205-207)aGa>aAa	p.R69K	INCENP_ENST00000278849.4_Missense_Mutation_p.R69K	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	69					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGGAAGAAGAGACGGATTTCT	0.532																																																	0													87.0	81.0	83.0					11																	61896307		2202	4299	6501	SO:0001583	missense	0			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.206G>A	11.37:g.61896307G>A	ENSP00000378295:p.Arg69Lys		A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R69K	ENST00000394818.3	37	c.206	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	G	8.799	0.932364	0.18131	.	.	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.19250	2.83;2.16;2.85	5.93	3.72	0.42706	.	0.214190	0.33040	N	0.005349	T	0.12944	0.0314	L	0.34521	1.04	0.30340	N	0.785769	B;B;B	0.17038	0.02;0.009;0.005	B;B;B	0.17722	0.019;0.006;0.003	T	0.13282	-1.0515	10	0.18710	T	0.47	.	5.4572	0.16598	0.3012:0.0:0.6988:0.0	.	69;69;69	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	K	69	ENSP00000378295:R69K;ENSP00000433100:R69K;ENSP00000278849:R69K	ENSP00000278849:R69K	R	+	2	0	INCENP	61652883	0.992000	0.36948	0.935000	0.37517	0.991000	0.79684	1.094000	0.30951	1.383000	0.46405	0.655000	0.94253	AGA	INCENP	-	NULL	ENSG00000149503		0.532	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	-	0.00	70	0	G	NM_020238		61896307	+1	tier1	-	no_errors	ENST00000394818	ensembl	human	known	74_37	missense	21.67	47	13	SNP	0.994	A
INCENP	3619	genome.wustl.edu	37	11	61896307	61896307	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:61896307G>A	ENST00000394818.3	+	3	408	c.206G>A	c.(205-207)aGa>aAa	p.R69K	INCENP_ENST00000278849.4_Missense_Mutation_p.R69K	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	69					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGGAAGAAGAGACGGATTTCT	0.532																																																	0													87.0	81.0	83.0					11																	61896307		2202	4299	6501	SO:0001583	missense	0			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.206G>A	11.37:g.61896307G>A	ENSP00000378295:p.Arg69Lys		A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R69K	ENST00000394818.3	37	c.206	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	G	8.799	0.932364	0.18131	.	.	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.19250	2.83;2.16;2.85	5.93	3.72	0.42706	.	0.214190	0.33040	N	0.005349	T	0.12944	0.0314	L	0.34521	1.04	0.30340	N	0.785769	B;B;B	0.17038	0.02;0.009;0.005	B;B;B	0.17722	0.019;0.006;0.003	T	0.13282	-1.0515	10	0.18710	T	0.47	.	5.4572	0.16598	0.3012:0.0:0.6988:0.0	.	69;69;69	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	K	69	ENSP00000378295:R69K;ENSP00000433100:R69K;ENSP00000278849:R69K	ENSP00000278849:R69K	R	+	2	0	INCENP	61652883	0.992000	0.36948	0.935000	0.37517	0.991000	0.79684	1.094000	0.30951	1.383000	0.46405	0.655000	0.94253	AGA	INCENP	-	NULL	ENSG00000149503		0.532	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	-	0.00	89	0	G	NM_020238		61896307	+1	tier1	-	no_errors	ENST00000394818	ensembl	human	known	74_37	missense	21.67	47	13	SNP	0.994	A
INPP5F	22876	genome.wustl.edu	37	10	121557109	121557109	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:121557109C>A	ENST00000361976.2	+	8	1171	c.1005C>A	c.(1003-1005)agC>agA	p.S335R	INPP5F_ENST00000369083.3_Missense_Mutation_p.S335R	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TCTTTTGGAGCCAGGTTGGGT	0.418																																																	0													97.0	83.0	88.0					10																	121557109		2203	4300	6503	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1005C>A	10.37:g.121557109C>A	ENSP00000354519:p.Ser335Arg		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.S335R	ENST00000361976.2	37	c.1005	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055560	0.55325	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.59638	0.25;0.25	5.65	3.73	0.42828	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	M	0.80422	2.495	0.80722	D	1	B	0.32939	0.391	B	0.42112	0.376	T	0.64786	-0.6325	10	0.72032	D	0.01	-19.2263	8.4143	0.32662	0.0:0.6926:0.0:0.3074	.	335	Q9Y2H2	SAC2_HUMAN	R	335	ENSP00000354519:S335R;ENSP00000358079:S335R	ENSP00000354519:S335R	S	+	3	2	INPP5F	121547099	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.113000	0.31184	0.792000	0.33850	0.563000	0.77884	AGC	INPP5F	-	pfam_Syja_N,pfscan_Syja_N	ENSG00000198825		0.418	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	-	0.00	42	0	C	NM_014937		121557109	+1	tier1	-	no_errors	ENST00000361976	ensembl	human	known	74_37	missense	36.00	32	18	SNP	1.000	A
INPP5F	22876	genome.wustl.edu	37	10	121557109	121557109	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:121557109C>A	ENST00000361976.2	+	8	1171	c.1005C>A	c.(1003-1005)agC>agA	p.S335R	INPP5F_ENST00000369083.3_Missense_Mutation_p.S335R	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TCTTTTGGAGCCAGGTTGGGT	0.418																																																	0													97.0	83.0	88.0					10																	121557109		2203	4300	6503	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1005C>A	10.37:g.121557109C>A	ENSP00000354519:p.Ser335Arg		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.S335R	ENST00000361976.2	37	c.1005	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055560	0.55325	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.59638	0.25;0.25	5.65	3.73	0.42828	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	M	0.80422	2.495	0.80722	D	1	B	0.32939	0.391	B	0.42112	0.376	T	0.64786	-0.6325	10	0.72032	D	0.01	-19.2263	8.4143	0.32662	0.0:0.6926:0.0:0.3074	.	335	Q9Y2H2	SAC2_HUMAN	R	335	ENSP00000354519:S335R;ENSP00000358079:S335R	ENSP00000354519:S335R	S	+	3	2	INPP5F	121547099	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.113000	0.31184	0.792000	0.33850	0.563000	0.77884	AGC	INPP5F	-	pfam_Syja_N,pfscan_Syja_N	ENSG00000198825		0.418	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	-	0.00	66	0	C	NM_014937		121557109	+1	tier1	-	no_errors	ENST00000361976	ensembl	human	known	74_37	missense	36.00	32	18	SNP	1.000	A
INSIG1	3638	genome.wustl.edu	37	7	155090010	155090010	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:155090010C>T	ENST00000340368.4	+	2	226	c.15C>T	c.(13-15)caC>caT	p.H5H	AC144652.1_ENST00000609974.1_lincRNA|INSIG1_ENST00000342407.5_Silent_p.H5H|INSIG1_ENST00000344756.4_Silent_p.H5H	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	5					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGATTGCACGACCACTTCT	0.657																																																	0													8.0	9.0	9.0					7																	155090010		2173	4232	6405	SO:0001819	synonymous_variant	0				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.15C>T	7.37:g.155090010C>T			A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Silent	SNP	pfam_INSIG_fam	p.H5	ENST00000340368.4	37	c.15	CCDS5938.1	7																																																																																			INSIG1	-	NULL	ENSG00000186480		0.657	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG1	HGNC	protein_coding	OTTHUMT00000322244.3	-	0.00	110	0	C	NM_198336		155090010	+1	tier1	-	no_errors	ENST00000340368	ensembl	human	known	74_37	silent	10.71	50	6	SNP	1.000	T
IRGQ	126298	genome.wustl.edu	37	19	44099419	44099419	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:44099419G>A	ENST00000602269.1	-	1	257	c.72C>T	c.(70-72)atC>atT	p.I24I	IRGQ_ENST00000422989.1_Silent_p.I24I|ZNF576_ENST00000336564.4_5'Flank|ZNF576_ENST00000391965.2_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank|L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	24										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				ACAGCGCTGCGATCAGCGCGG	0.672																																																	0													29.0	27.0	27.0					19																	44099419		2119	4164	6283	SO:0001819	synonymous_variant	0			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.72C>T	19.37:g.44099419G>A			B2RNP3	Silent	SNP	superfamily_P-loop_NTPase	p.I24	ENST00000602269.1	37	c.72	CCDS33040.1	19																																																																																			IRGQ	-	superfamily_P-loop_NTPase	ENSG00000167378		0.672	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	-	0.00	138	0	G	NM_001007561		44099419	-1	tier1	-	no_errors	ENST00000422989	ensembl	human	known	74_37	silent	28.89	63	26	SNP	0.009	A
IRGQ	126298	genome.wustl.edu	37	19	44099419	44099419	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:44099419G>A	ENST00000602269.1	-	1	257	c.72C>T	c.(70-72)atC>atT	p.I24I	IRGQ_ENST00000422989.1_Silent_p.I24I|ZNF576_ENST00000336564.4_5'Flank|ZNF576_ENST00000391965.2_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank|L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	24										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				ACAGCGCTGCGATCAGCGCGG	0.672																																																	0													29.0	27.0	27.0					19																	44099419		2119	4164	6283	SO:0001819	synonymous_variant	0			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.72C>T	19.37:g.44099419G>A			B2RNP3	Silent	SNP	superfamily_P-loop_NTPase	p.I24	ENST00000602269.1	37	c.72	CCDS33040.1	19																																																																																			IRGQ	-	superfamily_P-loop_NTPase	ENSG00000167378		0.672	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	-	0.00	145	0	G	NM_001007561		44099419	-1	tier1	-	no_errors	ENST00000422989	ensembl	human	known	74_37	silent	28.89	63	26	SNP	0.009	A
ISLR	3671	genome.wustl.edu	37	15	74467812	74467812	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:74467812C>A	ENST00000249842.3	+	2	970	c.613C>A	c.(613-615)Cag>Aag	p.Q205K	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.Q205K	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	205	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CATCCCGGAGCAGGACAACAT	0.652																																																	0													61.0	52.0	55.0					15																	74467812		2198	4297	6495	SO:0001583	missense	0			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.613C>A	15.37:g.74467812C>A	ENSP00000249842:p.Gln205Lys			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q205K	ENST00000249842.3	37	c.613	CCDS10260.1	15	.	.	.	.	.	.	.	.	.	.	C	0.647	-0.811131	0.02798	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.51325	0.71;0.71	4.05	4.05	0.47172	Cysteine-rich flanking region, C-terminal (1);	0.672445	0.12495	U	0.463917	T	0.25494	0.0620	N	0.16790	0.44	0.09310	N	1	B	0.22683	0.073	B	0.17433	0.018	T	0.25433	-1.0132	10	0.06099	T	0.92	.	7.0654	0.25149	0.2962:0.5307:0.1731:0.0	.	205	O14498	ISLR_HUMAN	K	205	ENSP00000249842:Q205K;ENSP00000378550:Q205K	ENSP00000249842:Q205K	Q	+	1	0	ISLR	72254865	0.755000	0.28372	0.999000	0.59377	0.668000	0.39293	0.572000	0.23684	1.822000	0.53115	0.313000	0.20887	CAG	ISLR	-	smart_Cys-rich_flank_reg_C	ENSG00000129009		0.652	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	HGNC	protein_coding	OTTHUMT00000269044.1	-	0.00	46	0	C	NM_005545		74467812	+1	tier1	-	no_errors	ENST00000249842	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.052	A
ISLR	3671	genome.wustl.edu	37	15	74467812	74467812	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:74467812C>A	ENST00000249842.3	+	2	970	c.613C>A	c.(613-615)Cag>Aag	p.Q205K	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.Q205K	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	205	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CATCCCGGAGCAGGACAACAT	0.652																																																	0													61.0	52.0	55.0					15																	74467812		2198	4297	6495	SO:0001583	missense	0			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.613C>A	15.37:g.74467812C>A	ENSP00000249842:p.Gln205Lys			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q205K	ENST00000249842.3	37	c.613	CCDS10260.1	15	.	.	.	.	.	.	.	.	.	.	C	0.647	-0.811131	0.02798	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.51325	0.71;0.71	4.05	4.05	0.47172	Cysteine-rich flanking region, C-terminal (1);	0.672445	0.12495	U	0.463917	T	0.25494	0.0620	N	0.16790	0.44	0.09310	N	1	B	0.22683	0.073	B	0.17433	0.018	T	0.25433	-1.0132	10	0.06099	T	0.92	.	7.0654	0.25149	0.2962:0.5307:0.1731:0.0	.	205	O14498	ISLR_HUMAN	K	205	ENSP00000249842:Q205K;ENSP00000378550:Q205K	ENSP00000249842:Q205K	Q	+	1	0	ISLR	72254865	0.755000	0.28372	0.999000	0.59377	0.668000	0.39293	0.572000	0.23684	1.822000	0.53115	0.313000	0.20887	CAG	ISLR	-	smart_Cys-rich_flank_reg_C	ENSG00000129009		0.652	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	HGNC	protein_coding	OTTHUMT00000269044.1	-	0.00	70	0	C	NM_005545		74467812	+1	tier1	-	no_errors	ENST00000249842	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.052	A
ITPKC	80271	genome.wustl.edu	37	19	41223895	41223895	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:41223895C>A	ENST00000263370.2	+	1	888	c.855C>A	c.(853-855)tcC>tcA	p.S285S	ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	285					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTGACGGTTCCCAGACAGCAC	0.542																																																	0													91.0	87.0	88.0					19																	41223895		2203	4300	6503	SO:0001819	synonymous_variant	0			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.855C>A	19.37:g.41223895C>A			Q9UE25|Q9Y475	Silent	SNP	pfam_IPK	p.S285	ENST00000263370.2	37	c.855	CCDS12563.1	19																																																																																			ITPKC	-	NULL	ENSG00000086544		0.542	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1		0.00	145	0	C	NM_025194		41223895	+1			no_errors	ENST00000263370	ensembl	human	known	74_37	silent	5.75	82	5	SNP	0.038	A
ITPR1	3708	genome.wustl.edu	37	3	4704812	4704812	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:4704812A>G	ENST00000443694.2	+	13	1431	c.1431A>G	c.(1429-1431)caA>caG	p.Q477Q	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.Q477Q|ITPR1_ENST00000423119.2_Silent_p.Q492Q|ITPR1_ENST00000302640.8_Silent_p.Q477Q|ITPR1_ENST00000354582.6_Silent_p.Q492Q|ITPR1_ENST00000357086.4_Silent_p.Q492Q			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	492					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ATTCTGGTCAAGATGTTCTCG	0.453																																																	0													143.0	140.0	141.0					3																	4704812		1957	4161	6118	SO:0001819	synonymous_variant	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1431A>G	3.37:g.4704812A>G			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.Q477	ENST00000443694.2	37	c.1431	CCDS54551.1	3																																																																																			ITPR1	-	pfam_Ca-rel_channel	ENSG00000150995		0.453	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0.00	120	0	A	NM_002222		4704812	+1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	silent	8.97	71	7	SNP	1.000	G
ITPR1	3708	genome.wustl.edu	37	3	4704812	4704812	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:4704812A>G	ENST00000443694.2	+	13	1431	c.1431A>G	c.(1429-1431)caA>caG	p.Q477Q	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.Q477Q|ITPR1_ENST00000423119.2_Silent_p.Q492Q|ITPR1_ENST00000302640.8_Silent_p.Q477Q|ITPR1_ENST00000354582.6_Silent_p.Q492Q|ITPR1_ENST00000357086.4_Silent_p.Q492Q			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	492					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ATTCTGGTCAAGATGTTCTCG	0.453																																																	0													143.0	140.0	141.0					3																	4704812		1957	4161	6118	SO:0001819	synonymous_variant	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1431A>G	3.37:g.4704812A>G			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.Q477	ENST00000443694.2	37	c.1431	CCDS54551.1	3																																																																																			ITPR1	-	pfam_Ca-rel_channel	ENSG00000150995		0.453	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0.00	71	0	A	NM_002222		4704812	+1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	silent	8.97	71	7	SNP	1.000	G
ITSN1	6453	genome.wustl.edu	37	21	35195800	35195800	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:35195800C>T	ENST00000381318.3	+	25	3314	c.3026C>T	c.(3025-3027)gCc>gTc	p.A1009V	ITSN1_ENST00000399367.3_Missense_Mutation_p.A1004V|ITSN1_ENST00000381291.4_Missense_Mutation_p.A1009V|ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399353.1_Missense_Mutation_p.A967V|ITSN1_ENST00000437442.2_Missense_Mutation_p.A1004V|ITSN1_ENST00000399326.3_Intron|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.A1004V|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.A1009V	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1009	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAATTTATTGCCATGTACACT	0.408																																																	0													114.0	106.0	109.0					21																	35195800		2203	4300	6503	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3026C>T	21.37:g.35195800C>T	ENSP00000370719:p.Ala1009Val		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.A1009V	ENST00000381318.3	37	c.3026	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	C	35	5.425464	0.96131	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000437442	T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06	6.03	6.03	0.97812	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.985;0.994	D;D;D;P;D	0.77004	0.984;0.989;0.989;0.877;0.934	T	0.76610	-0.2896	10	0.51188	T	0.08	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	972;1004;1004;1009;967	A7XZY7;A8CTY3;A8CTX8;Q15811;E7ERJ0	.;.;.;ITSN1_HUMAN;.	V	967;1009;1009;1009;1004;1004;1004;1004	ENSP00000382290:A967V;ENSP00000370719:A1009V;ENSP00000370691:A1009V;ENSP00000370685:A1009V;ENSP00000382301:A1004V;ENSP00000382289:A1004V;ENSP00000387377:A1004V	ENSP00000370685:A1009V	A	+	2	0	ITSN1	34117670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	GCC	ITSN1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000205726		0.408	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	-	0.00	82	0	C	NM_003024		35195800	+1	tier1	-	no_errors	ENST00000381285	ensembl	human	known	74_37	missense	40.79	44	31	SNP	1.000	T
ITSN1	6453	genome.wustl.edu	37	21	35229051	35229051	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:35229051T>A	ENST00000381318.3	+	30	3961	c.3673T>A	c.(3673-3675)Tta>Ata	p.L1225I	ITSN1_ENST00000399367.3_Missense_Mutation_p.L1220I|ITSN1_ENST00000437442.2_Missense_Mutation_p.L1220I|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.L1225I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1225					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GTGTTCAGACTTACATCTCTT	0.498																																																	0													135.0	112.0	120.0					21																	35229051		2203	4300	6503	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3673T>A	21.37:g.35229051T>A	ENSP00000370719:p.Leu1225Ile		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.L1225I	ENST00000381318.3	37	c.3673	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220275	0.79464	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.21	0.0614	0.14340	Dbl homology (DH) domain (1);	0.000000	0.64402	D	0.000003	T	0.45155	0.1328	L	0.60455	1.87	0.80722	D	1	D;P;P	0.63046	0.992;0.887;0.887	D;P;P	0.71870	0.975;0.692;0.692	T	0.20840	-1.0263	10	0.46703	T	0.11	.	10.7127	0.45993	0.0:0.4251:0.0:0.5749	.	1220;1220;1225	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	I	1225;1225;1154;1220;1220	ENSP00000370719:L1225I;ENSP00000370685:L1225I;ENSP00000382301:L1220I;ENSP00000387377:L1220I	ENSP00000370685:L1225I	L	+	1	2	ITSN1	34150921	0.997000	0.39634	0.950000	0.38849	0.996000	0.88848	0.733000	0.26087	-0.164000	0.10927	0.528000	0.53228	TTA	ITSN1	-	superfamily_DH-domain	ENSG00000205726		0.498	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	-	0.00	108	0	T	NM_003024		35229051	+1	tier1	-	no_errors	ENST00000381285	ensembl	human	known	74_37	missense	7.59	73	6	SNP	0.998	A
ITSN1	6453	genome.wustl.edu	37	21	35229051	35229051	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:35229051T>A	ENST00000381318.3	+	30	3961	c.3673T>A	c.(3673-3675)Tta>Ata	p.L1225I	ITSN1_ENST00000399367.3_Missense_Mutation_p.L1220I|ITSN1_ENST00000437442.2_Missense_Mutation_p.L1220I|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.L1225I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1225					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GTGTTCAGACTTACATCTCTT	0.498																																																	0													135.0	112.0	120.0					21																	35229051		2203	4300	6503	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3673T>A	21.37:g.35229051T>A	ENSP00000370719:p.Leu1225Ile		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.L1225I	ENST00000381318.3	37	c.3673	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220275	0.79464	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.21	0.0614	0.14340	Dbl homology (DH) domain (1);	0.000000	0.64402	D	0.000003	T	0.45155	0.1328	L	0.60455	1.87	0.80722	D	1	D;P;P	0.63046	0.992;0.887;0.887	D;P;P	0.71870	0.975;0.692;0.692	T	0.20840	-1.0263	10	0.46703	T	0.11	.	10.7127	0.45993	0.0:0.4251:0.0:0.5749	.	1220;1220;1225	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	I	1225;1225;1154;1220;1220	ENSP00000370719:L1225I;ENSP00000370685:L1225I;ENSP00000382301:L1220I;ENSP00000387377:L1220I	ENSP00000370685:L1225I	L	+	1	2	ITSN1	34150921	0.997000	0.39634	0.950000	0.38849	0.996000	0.88848	0.733000	0.26087	-0.164000	0.10927	0.528000	0.53228	TTA	ITSN1	-	superfamily_DH-domain	ENSG00000205726		0.498	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	-	0.00	113	0	T	NM_003024		35229051	+1	tier1	-	no_errors	ENST00000381285	ensembl	human	known	74_37	missense	7.59	73	6	SNP	0.998	A
IYD	389434	genome.wustl.edu	37	6	150716745	150716745	+	Intron	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:150716745T>G	ENST00000344419.3	+	4	827				IYD_ENST00000500320.3_Missense_Mutation_p.F281C|IYD_ENST00000392256.2_Intron|IYD_ENST00000229447.5_Intron|IYD_ENST00000392255.3_Intron	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase						cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GCCATTGAGTTTGCTGCCCCC	0.512											OREG0017729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													33.0	36.0	35.0					6																	150716745		692	1591	2283	SO:0001627	intron_variant	0			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.687+1354T>G	6.37:g.150716745T>G		1734	C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	pfam_Nitroreductase-like,superfamily_Nitroreductase-like	p.F281C	ENST00000344419.3	37	c.842	CCDS5227.1	6	.	.	.	.	.	.	.	.	.	.	T	6.629	0.484551	0.12641	.	.	ENSG00000009765	ENST00000500320	D	0.88124	-2.34	5.92	0.683	0.17998	.	.	.	.	.	T	0.74718	0.3753	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67499	-0.5655	5	.	.	.	.	3.6577	0.08226	0.1552:0.2736:0.0:0.5712	.	.	.	.	C	281	ENSP00000441276:F281C	.	F	+	2	0	IYD	150758438	0.986000	0.35501	0.787000	0.31911	0.548000	0.35241	0.032000	0.13732	-0.095000	0.12351	0.383000	0.25322	TTT	IYD	-	NULL	ENSG00000009765		0.512	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IYD	HGNC	protein_coding	OTTHUMT00000043754.3	-	0.00	22	0	T	NM_203395		150716745	+1	tier1	-	no_errors	ENST00000500320	ensembl	human	known	74_37	missense	60.87	9	14	SNP	0.991	G
IYD	389434	genome.wustl.edu	37	6	150716745	150716745	+	Intron	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:150716745T>G	ENST00000344419.3	+	4	827				IYD_ENST00000500320.3_Missense_Mutation_p.F281C|IYD_ENST00000392256.2_Intron|IYD_ENST00000229447.5_Intron|IYD_ENST00000392255.3_Intron	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase						cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GCCATTGAGTTTGCTGCCCCC	0.512											OREG0017729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													33.0	36.0	35.0					6																	150716745		692	1591	2283	SO:0001627	intron_variant	0			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.687+1354T>G	6.37:g.150716745T>G		1734	C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	pfam_Nitroreductase-like,superfamily_Nitroreductase-like	p.F281C	ENST00000344419.3	37	c.842	CCDS5227.1	6	.	.	.	.	.	.	.	.	.	.	T	6.629	0.484551	0.12641	.	.	ENSG00000009765	ENST00000500320	D	0.88124	-2.34	5.92	0.683	0.17998	.	.	.	.	.	T	0.74718	0.3753	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67499	-0.5655	5	.	.	.	.	3.6577	0.08226	0.1552:0.2736:0.0:0.5712	.	.	.	.	C	281	ENSP00000441276:F281C	.	F	+	2	0	IYD	150758438	0.986000	0.35501	0.787000	0.31911	0.548000	0.35241	0.032000	0.13732	-0.095000	0.12351	0.383000	0.25322	TTT	IYD	-	NULL	ENSG00000009765		0.512	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IYD	HGNC	protein_coding	OTTHUMT00000043754.3	-	0.00	35	0	T	NM_203395		150716745	+1	tier1	-	no_errors	ENST00000500320	ensembl	human	known	74_37	missense	60.87	9	14	SNP	0.991	G
JAG2	3714	genome.wustl.edu	37	14	105609380	105609380	+	Silent	SNP	G	G	A	rs138204105		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:105609380G>A	ENST00000331782.3	-	26	3772	c.3369C>T	c.(3367-3369)agC>agT	p.S1123S	JAG2_ENST00000347004.2_Silent_p.S1085S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1123					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGTTGTTGGCGCTCTCCTCCC	0.677																																																	0								G	,	1,4389		0,1,2194	17.0	21.0	20.0		3369,3255	3.1	0.5	14	dbSNP_134	20	1,8569		0,1,4284	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,2,6478	AA,AG,GG		0.0117,0.0228,0.0154	,	1123/1239,1085/1201	105609380	2,12958	2195	4285	6480	SO:0001819	synonymous_variant	0			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3369C>T	14.37:g.105609380G>A			Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.S1123	ENST00000331782.3	37	c.3369	CCDS9998.1	14																																																																																			JAG2	-	NULL	ENSG00000184916		0.677	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	-	0.00	11	0	G			105609380	-1	tier1	rs138204105	no_errors	ENST00000331782	ensembl	human	known	74_37	silent	40.00	6	4	SNP	0.340	A
JAG2	3714	genome.wustl.edu	37	14	105609380	105609380	+	Silent	SNP	G	G	A	rs138204105		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:105609380G>A	ENST00000331782.3	-	26	3772	c.3369C>T	c.(3367-3369)agC>agT	p.S1123S	JAG2_ENST00000347004.2_Silent_p.S1085S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1123					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGTTGTTGGCGCTCTCCTCCC	0.677																																																	0								G	,	1,4389		0,1,2194	17.0	21.0	20.0		3369,3255	3.1	0.5	14	dbSNP_134	20	1,8569		0,1,4284	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,2,6478	AA,AG,GG		0.0117,0.0228,0.0154	,	1123/1239,1085/1201	105609380	2,12958	2195	4285	6480	SO:0001819	synonymous_variant	0			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3369C>T	14.37:g.105609380G>A			Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.S1123	ENST00000331782.3	37	c.3369	CCDS9998.1	14																																																																																			JAG2	-	NULL	ENSG00000184916		0.677	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	-	0.00	13	0	G			105609380	-1	tier1	rs138204105	no_errors	ENST00000331782	ensembl	human	known	74_37	silent	40.00	6	4	SNP	0.340	A
JAK3	3718	genome.wustl.edu	37	19	17942140	17942140	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:17942140T>G	ENST00000527670.1	-	20	2904	c.2875A>C	c.(2875-2877)Agc>Cgc	p.S959R	JAK3_ENST00000534444.1_Missense_Mutation_p.S959R|JAK3_ENST00000458235.1_Missense_Mutation_p.S959R			P52333	JAK3_HUMAN	Janus kinase 3	959	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGTGCCTCGCTCTCCACGAGG	0.652		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													131.0	115.0	120.0					19																	17942140		2203	4300	6503	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2875A>C	19.37:g.17942140T>G	ENSP00000432511:p.Ser959Arg		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S959R	ENST00000527670.1	37	c.2875	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518632	0.85495	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.82711	-1.64;-1.64;-1.64	3.28	3.28	0.37604	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.102777	0.64402	D	0.000005	D	0.85423	0.5693	L	0.43598	1.365	0.80722	D	1	D;B	0.55172	0.97;0.382	D;B	0.65773	0.938;0.353	D	0.85977	0.1480	10	0.87932	D	0	-24.3752	10.2413	0.43314	0.0:0.0:0.0:1.0	.	959;959	P52333-2;P52333	.;JAK3_HUMAN	R	959	ENSP00000391676:S959R;ENSP00000432511:S959R;ENSP00000436421:S959R	ENSP00000391676:S959R	S	-	1	0	JAK3	17803140	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.969000	0.63735	1.469000	0.48083	0.379000	0.24179	AGC	JAK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000105639		0.652	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	-	0.00	117	0	T	NM_000215		17942140	-1	tier1	-	no_errors	ENST00000458235	ensembl	human	known	74_37	missense	9.38	87	9	SNP	1.000	G
JAK3	3718	genome.wustl.edu	37	19	17942140	17942140	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:17942140T>G	ENST00000527670.1	-	20	2904	c.2875A>C	c.(2875-2877)Agc>Cgc	p.S959R	JAK3_ENST00000534444.1_Missense_Mutation_p.S959R|JAK3_ENST00000458235.1_Missense_Mutation_p.S959R			P52333	JAK3_HUMAN	Janus kinase 3	959	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGTGCCTCGCTCTCCACGAGG	0.652		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													131.0	115.0	120.0					19																	17942140		2203	4300	6503	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2875A>C	19.37:g.17942140T>G	ENSP00000432511:p.Ser959Arg		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S959R	ENST00000527670.1	37	c.2875	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518632	0.85495	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.82711	-1.64;-1.64;-1.64	3.28	3.28	0.37604	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.102777	0.64402	D	0.000005	D	0.85423	0.5693	L	0.43598	1.365	0.80722	D	1	D;B	0.55172	0.97;0.382	D;B	0.65773	0.938;0.353	D	0.85977	0.1480	10	0.87932	D	0	-24.3752	10.2413	0.43314	0.0:0.0:0.0:1.0	.	959;959	P52333-2;P52333	.;JAK3_HUMAN	R	959	ENSP00000391676:S959R;ENSP00000432511:S959R;ENSP00000436421:S959R	ENSP00000391676:S959R	S	-	1	0	JAK3	17803140	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.969000	0.63735	1.469000	0.48083	0.379000	0.24179	AGC	JAK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000105639		0.652	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	-	0.00	139	0	T	NM_000215		17942140	-1	tier1	-	no_errors	ENST00000458235	ensembl	human	known	74_37	missense	9.38	87	9	SNP	1.000	G
KANK1	23189	genome.wustl.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-	rs569686873|rs370051574		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463																																																	0									,	16,0,4248		0,0,16,0,0,2116					,	5.3	1.0		dbSNP_132	135	3,2,8249		0,0,3,1,0,4123	no	codingComplex,codingComplex	KANK1	NM_153186.3,NM_015158.2	,	0,0,19,1,0,6239	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.3752,0.1678	,	,		19,2,12497				SO:0001651	inframe_deletion	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3103_3105delGAG	9.37:g.732484_732486delGAG	ENSP00000371740:p.Glu1039del		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	In_Frame_Del	DEL	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1038in_frame_del	ENST00000382303.1	37	c.3103_3105	CCDS34976.1	9																																																																																			KANK1	-	NULL	ENSG00000107104		0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2		0.00	65	0	GAG	NM_015158		732477	+1	tier1		no_errors	ENST00000382297	ensembl	human	known	74_37	in_frame_del	12.50	35	5	DEL	1.000:1.000:1.000	-
KANK1	23189	genome.wustl.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-	rs569686873|rs370051574		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463																																																	0									,	16,0,4248		0,0,16,0,0,2116					,	5.3	1.0		dbSNP_132	135	3,2,8249		0,0,3,1,0,4123	no	codingComplex,codingComplex	KANK1	NM_153186.3,NM_015158.2	,	0,0,19,1,0,6239	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.3752,0.1678	,	,		19,2,12497				SO:0001651	inframe_deletion	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3103_3105delGAG	9.37:g.732484_732486delGAG	ENSP00000371740:p.Glu1039del		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	In_Frame_Del	DEL	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1038in_frame_del	ENST00000382303.1	37	c.3103_3105	CCDS34976.1	9																																																																																			KANK1	-	NULL	ENSG00000107104		0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2		0.00	73	0	GAG	NM_015158		732477	+1	tier1		no_errors	ENST00000382297	ensembl	human	known	74_37	in_frame_del	12.50	35	5	DEL	1.000:1.000:1.000	-
KATNAL2	83473	genome.wustl.edu	37	18	44585961	44585961	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:44585961A>C	ENST00000245121.5	+	5	463	c.269A>C	c.(268-270)aAc>aCc	p.N90T	KATNAL2_ENST00000356157.7_Missense_Mutation_p.N162T|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GAAAGTGCCAACTTCGGCCTA	0.478																																																	0													164.0	159.0	161.0					18																	44585961		2203	4300	6503	SO:0001583	missense	0			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.269A>C	18.37:g.44585961A>C	ENSP00000245121:p.Asn90Thr			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.N90T	ENST00000245121.5	37	c.269	CCDS32828.1	18	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507612	0.27036	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.93307	-3.2;-3.19	5.69	5.69	0.88448	.	0.275088	0.41097	D	0.000956	D	0.86410	0.5926	N	0.14661	0.345	0.27057	N	0.963636	B	0.13594	0.008	B	0.17098	0.017	T	0.76168	-0.3058	10	0.32370	T	0.25	-7.8142	12.3456	0.55119	1.0:0.0:0.0:0.0	.	162	Q8IYT4	KATL2_HUMAN	T	162;90	ENSP00000348478:N162T;ENSP00000245121:N90T	ENSP00000245121:N90T	N	+	2	0	KATNAL2	42839959	0.999000	0.42202	0.946000	0.38457	0.003000	0.03518	4.614000	0.61183	2.163000	0.67991	0.533000	0.62120	AAC	KATNAL2	-	NULL	ENSG00000167216		0.478	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	KATNAL2	HGNC	protein_coding	OTTHUMT00000446138.2	-	0.00	100	0	A	NM_031303		44585961	+1	tier1	-	no_errors	ENST00000245121	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.987	C
KATNAL2	83473	genome.wustl.edu	37	18	44585961	44585961	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:44585961A>C	ENST00000245121.5	+	5	463	c.269A>C	c.(268-270)aAc>aCc	p.N90T	KATNAL2_ENST00000356157.7_Missense_Mutation_p.N162T|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GAAAGTGCCAACTTCGGCCTA	0.478																																																	0													164.0	159.0	161.0					18																	44585961		2203	4300	6503	SO:0001583	missense	0			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.269A>C	18.37:g.44585961A>C	ENSP00000245121:p.Asn90Thr			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.N90T	ENST00000245121.5	37	c.269	CCDS32828.1	18	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507612	0.27036	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.93307	-3.2;-3.19	5.69	5.69	0.88448	.	0.275088	0.41097	D	0.000956	D	0.86410	0.5926	N	0.14661	0.345	0.27057	N	0.963636	B	0.13594	0.008	B	0.17098	0.017	T	0.76168	-0.3058	10	0.32370	T	0.25	-7.8142	12.3456	0.55119	1.0:0.0:0.0:0.0	.	162	Q8IYT4	KATL2_HUMAN	T	162;90	ENSP00000348478:N162T;ENSP00000245121:N90T	ENSP00000245121:N90T	N	+	2	0	KATNAL2	42839959	0.999000	0.42202	0.946000	0.38457	0.003000	0.03518	4.614000	0.61183	2.163000	0.67991	0.533000	0.62120	AAC	KATNAL2	-	NULL	ENSG00000167216		0.478	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	KATNAL2	HGNC	protein_coding	OTTHUMT00000446138.2	-	0.00	78	0	A	NM_031303		44585961	+1	tier1	-	no_errors	ENST00000245121	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.987	C
KCNH7	90134	genome.wustl.edu	37	2	163374290	163374290	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:163374290C>A	ENST00000332142.5	-	4	941	c.842G>T	c.(841-843)gGa>gTa	p.G281V	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.G281V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	281					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GACGCCGAATCCTTCTATATC	0.413																																					GBM(196;1492 2208 17507 24132 45496)												0													108.0	99.0	102.0					2																	163374290		2203	4300	6503	SO:0001583	missense	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.842G>T	2.37:g.163374290C>A	ENSP00000331727:p.Gly281Val		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.G281V	ENST00000332142.5	37	c.842	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409109	0.83340	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98914	-5.23;-5.23	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	L	0.29908	0.895	0.80722	D	1	P;D	0.64830	0.923;0.994	P;D	0.63033	0.504;0.91	D	0.98505	1.0616	10	0.40728	T	0.16	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	281;281	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	V	281	ENSP00000331727:G281V;ENSP00000333781:G281V	ENSP00000333781:G281V	G	-	2	0	KCNH7	163082536	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.541000	0.67212	2.826000	0.97356	0.655000	0.94253	GGA	KCNH7	-	NULL	ENSG00000184611		0.413	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1		0.00	36	0	C	NM_033272		163374290	-1			no_errors	ENST00000332142	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A
KCNQ3	3786	genome.wustl.edu	37	8	133192504	133192504	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:133192504A>G	ENST00000388996.4	-	4	1097	c.677T>C	c.(676-678)cTg>cCg	p.L226P	KCNQ3_ENST00000521134.1_Missense_Mutation_p.L106P|KCNQ3_ENST00000519445.1_Missense_Mutation_p.L226P	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	226					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CAGGCTTCGCAGGGAGGTGGC	0.592																																																	0													106.0	93.0	98.0					8																	133192504		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.677T>C	8.37:g.133192504A>G	ENSP00000373648:p.Leu226Pro		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.L226P	ENST00000388996.4	37	c.677	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	A	14.84	2.656533	0.47467	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98926	-5.24;-5.24;-5.24	5.52	5.52	0.82312	Ion transport (1);	0.129798	0.49305	D	0.000151	D	0.98118	0.9379	M	0.86268	2.805	0.80722	D	1	B;B	0.25235	0.121;0.121	B;B	0.26416	0.069;0.069	D	0.97622	1.0136	10	0.87932	D	0	-13.3018	14.8078	0.69971	1.0:0.0:0.0:0.0	.	226;226	E7ET42;O43525	.;KCNQ3_HUMAN	P	226;106;226;215;105	ENSP00000373648:L226P;ENSP00000429799:L106P;ENSP00000428790:L226P	ENSP00000373648:L226P	L	-	2	0	KCNQ3	133261686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.229000	0.95273	2.109000	0.64355	0.459000	0.35465	CTG	KCNQ3	-	pfam_Ion_trans_dom	ENSG00000184156		0.592	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2		0.00	30	0	A	NM_004519		133192504	-1			no_errors	ENST00000388996	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	G
KCNRG	283518	genome.wustl.edu	37	13	50589912	50589912	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:50589912G>T	ENST00000312942.1	+	1	523	c.283G>T	c.(283-285)Gtt>Ttt	p.V95F	TRIM13_ENST00000378182.3_3'UTR|KCNRG_ENST00000360473.4_Missense_Mutation_p.V95F|TRIM13_ENST00000478111.1_Intron	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	95	BTB.				protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TCGTTCTCTAGTTGATCTCTT	0.423																																																	0													142.0	143.0	143.0					13																	50589912		2203	4300	6503	SO:0001583	missense	0				CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.283G>T	13.37:g.50589912G>T	ENSP00000324191:p.Val95Phe		A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.V95F	ENST00000312942.1	37	c.283	CCDS9424.1	13	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194349	0.58017	.	.	ENSG00000198553	ENST00000360473;ENST00000312942	T;T	0.46063	0.88;0.88	5.98	5.14	0.70334	BTB/POZ-like (1);BTB/POZ fold (2);	0.169580	0.40064	N	0.001195	T	0.65112	0.2660	M	0.84156	2.68	0.36408	D	0.863567	D;D	0.58970	0.984;0.98	P;P	0.62491	0.903;0.804	T	0.77024	-0.2741	10	0.72032	D	0.01	.	14.9601	0.71151	0.0681:0.0:0.9319:0.0	.	95;95	Q8N5I3;Q8N5I3-2	KCNRG_HUMAN;.	F	95	ENSP00000353661:V95F;ENSP00000324191:V95F	ENSP00000324191:V95F	V	+	1	0	KCNRG	49487913	1.000000	0.71417	0.996000	0.52242	0.413000	0.31143	3.449000	0.52950	1.541000	0.49316	0.655000	0.94253	GTT	KCNRG	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000198553		0.423	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNRG	HGNC	protein_coding	OTTHUMT00000276308.1		0.00	41	0	G			50589912	+1			no_errors	ENST00000312942	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	T
KCNS3	3790	genome.wustl.edu	37	2	18112861	18112861	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:18112861C>A	ENST00000403915.1	+	3	1037	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.L196M	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	196					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGCGTGGTGCTGGCCTCCAT	0.542																																																	0													69.0	67.0	68.0					2																	18112861		2203	4300	6503	SO:0001583	missense	0			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.586C>A	2.37:g.18112861C>A	ENSP00000385968:p.Leu196Met		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.L196M	ENST00000403915.1	37	c.586	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472748	0.43942	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98090	-4.71;-4.71	5.88	4.83	0.62350	.	0.076953	0.53938	D	0.000051	D	0.98277	0.9429	M	0.81802	2.56	0.46396	D	0.99902	D	0.76494	0.999	D	0.64237	0.923	D	0.97945	1.0328	10	0.59425	D	0.04	.	12.2954	0.54842	0.0:0.8569:0.0:0.1431	.	196	Q9BQ31	KCNS3_HUMAN	M	196	ENSP00000385968:L196M;ENSP00000305824:L196M	ENSP00000305824:L196M	L	+	1	2	KCNS3	17976342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.962000	0.40442	2.782000	0.95742	0.655000	0.94253	CTG	KCNS3	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv9	ENSG00000170745		0.542	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	-	0.00	42	0	C	NM_002252		18112861	+1	tier1	-	no_errors	ENST00000304101	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	A
KCNS3	3790	genome.wustl.edu	37	2	18112861	18112861	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:18112861C>A	ENST00000403915.1	+	3	1037	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.L196M	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	196					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGCGTGGTGCTGGCCTCCAT	0.542																																																	0													69.0	67.0	68.0					2																	18112861		2203	4300	6503	SO:0001583	missense	0			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.586C>A	2.37:g.18112861C>A	ENSP00000385968:p.Leu196Met		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.L196M	ENST00000403915.1	37	c.586	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472748	0.43942	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98090	-4.71;-4.71	5.88	4.83	0.62350	.	0.076953	0.53938	D	0.000051	D	0.98277	0.9429	M	0.81802	2.56	0.46396	D	0.99902	D	0.76494	0.999	D	0.64237	0.923	D	0.97945	1.0328	10	0.59425	D	0.04	.	12.2954	0.54842	0.0:0.8569:0.0:0.1431	.	196	Q9BQ31	KCNS3_HUMAN	M	196	ENSP00000385968:L196M;ENSP00000305824:L196M	ENSP00000305824:L196M	L	+	1	2	KCNS3	17976342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.962000	0.40442	2.782000	0.95742	0.655000	0.94253	CTG	KCNS3	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv9	ENSG00000170745		0.542	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	-	0.00	74	0	C	NM_002252		18112861	+1	tier1	-	no_errors	ENST00000304101	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	A
KCNT2	343450	genome.wustl.edu	37	1	196300370	196300370	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:196300370A>C	ENST00000294725.9	-	18	2934	c.2019T>G	c.(2017-2019)ccT>ccG	p.P673P	KCNT2_ENST00000451324.2_Silent_p.P284P|KCNT2_ENST00000367431.4_Silent_p.P623P|KCNT2_ENST00000609185.1_Silent_p.P623P|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Silent_p.P673P			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	673					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGGAGAATAAGGTGGGTAAC	0.343																																																	0													140.0	153.0	149.0					1																	196300370		2203	4294	6497	SO:0001819	synonymous_variant	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2019T>G	1.37:g.196300370A>C			Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.P673	ENST00000294725.9	37	c.2019	CCDS1384.1	1																																																																																			KCNT2	-	NULL	ENSG00000162687		0.343	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2		0.00	88	0	A	NM_198503		196300370	-1			no_errors	ENST00000294725	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.634	C
KDM3B	51780	genome.wustl.edu	37	5	137727387	137727387	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:137727387A>C	ENST00000314358.5	+	8	2266	c.2066A>C	c.(2065-2067)aAg>aCg	p.K689T	KDM3B_ENST00000394866.1_Missense_Mutation_p.K345T|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	689	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTAGCAAAGAAGAAACCCCTC	0.547																																																	0													52.0	54.0	53.0					5																	137727387		2203	4300	6503	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2066A>C	5.37:g.137727387A>C	ENSP00000326563:p.Lys689Thr		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.K689T	ENST00000314358.5	37	c.2066	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836115	0.71373	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.77229	-0.57;-1.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	L	0.29908	0.895	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.60345	0.873;0.815	T	0.80374	-0.1409	10	0.44086	T	0.13	-24.4377	15.7448	0.77929	1.0:0.0:0.0:0.0	.	345;689	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	T	689;479;345	ENSP00000326563:K689T;ENSP00000378335:K345T	ENSP00000326563:K689T	K	+	2	0	KDM3B	137755286	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.962000	0.87912	2.176000	0.68965	0.533000	0.62120	AAG	KDM3B	-	NULL	ENSG00000120733		0.547	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0.00	35	0	A	NM_016604		137727387	+1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	C
KDM3B	51780	genome.wustl.edu	37	5	137727387	137727387	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:137727387A>C	ENST00000314358.5	+	8	2266	c.2066A>C	c.(2065-2067)aAg>aCg	p.K689T	KDM3B_ENST00000394866.1_Missense_Mutation_p.K345T|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	689	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTAGCAAAGAAGAAACCCCTC	0.547																																																	0													52.0	54.0	53.0					5																	137727387		2203	4300	6503	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2066A>C	5.37:g.137727387A>C	ENSP00000326563:p.Lys689Thr		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.K689T	ENST00000314358.5	37	c.2066	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836115	0.71373	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.77229	-0.57;-1.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	L	0.29908	0.895	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.60345	0.873;0.815	T	0.80374	-0.1409	10	0.44086	T	0.13	-24.4377	15.7448	0.77929	1.0:0.0:0.0:0.0	.	345;689	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	T	689;479;345	ENSP00000326563:K689T;ENSP00000378335:K345T	ENSP00000326563:K689T	K	+	2	0	KDM3B	137755286	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.962000	0.87912	2.176000	0.68965	0.533000	0.62120	AAG	KDM3B	-	NULL	ENSG00000120733		0.547	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0.00	37	0	A	NM_016604		137727387	+1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	C
KIAA0895	23366	genome.wustl.edu	37	7	36373542	36373542	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:36373542C>A	ENST00000297063.6	-	5	1279	c.1229G>T	c.(1228-1230)aGg>aTg	p.R410M	KIAA0895_ENST00000317020.6_Missense_Mutation_p.R359M|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R407M|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R307M|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R397M|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R165M	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	410										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGACAAACCTGCCAATATC	0.448																																																	0													98.0	97.0	97.0					7																	36373542		1860	4082	5942	SO:0001583	missense	0			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1229G>T	7.37:g.36373542C>A	ENSP00000297063:p.Arg410Met		B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	pfam_DUF1704	p.R410M	ENST00000297063.6	37	c.1229	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694713	0.68386	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.02	1.24	0.21308	.	0.276886	0.41396	D	0.000882	T	0.62171	0.2406	L	0.54323	1.7	0.80722	D	1	P;P;P;P;P	0.52692	0.78;0.817;0.93;0.955;0.696	P;P;P;P;P	0.56823	0.724;0.779;0.807;0.724;0.487	T	0.60831	-0.7185	9	0.87932	D	0	-8.5987	8.7885	0.34837	0.0:0.2268:0.0:0.7732	.	407;307;410;397;359	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	M	410;397;359;407;307;165	.	ENSP00000297063:R410M	R	-	2	0	KIAA0895	36340067	0.005000	0.15991	0.760000	0.31359	0.962000	0.63368	0.187000	0.16998	0.027000	0.15297	-0.302000	0.09304	AGG	KIAA0895	-	pfam_DUF1704	ENSG00000164542		0.448	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	-	0.00	126	0	C	NM_015314		36373542	-1	tier1	-	no_errors	ENST00000297063	ensembl	human	known	74_37	missense	11.03	129	16	SNP	0.975	A
KIAA0895	23366	genome.wustl.edu	37	7	36373542	36373542	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:36373542C>A	ENST00000297063.6	-	5	1279	c.1229G>T	c.(1228-1230)aGg>aTg	p.R410M	KIAA0895_ENST00000317020.6_Missense_Mutation_p.R359M|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R407M|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R307M|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R397M|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R165M	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	410										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGACAAACCTGCCAATATC	0.448																																																	0													98.0	97.0	97.0					7																	36373542		1860	4082	5942	SO:0001583	missense	0			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1229G>T	7.37:g.36373542C>A	ENSP00000297063:p.Arg410Met		B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	pfam_DUF1704	p.R410M	ENST00000297063.6	37	c.1229	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694713	0.68386	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.02	1.24	0.21308	.	0.276886	0.41396	D	0.000882	T	0.62171	0.2406	L	0.54323	1.7	0.80722	D	1	P;P;P;P;P	0.52692	0.78;0.817;0.93;0.955;0.696	P;P;P;P;P	0.56823	0.724;0.779;0.807;0.724;0.487	T	0.60831	-0.7185	9	0.87932	D	0	-8.5987	8.7885	0.34837	0.0:0.2268:0.0:0.7732	.	407;307;410;397;359	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	M	410;397;359;407;307;165	.	ENSP00000297063:R410M	R	-	2	0	KIAA0895	36340067	0.005000	0.15991	0.760000	0.31359	0.962000	0.63368	0.187000	0.16998	0.027000	0.15297	-0.302000	0.09304	AGG	KIAA0895	-	pfam_DUF1704	ENSG00000164542		0.448	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	-	0.00	133	0	C	NM_015314		36373542	-1	tier1	-	no_errors	ENST00000297063	ensembl	human	known	74_37	missense	11.03	129	16	SNP	0.975	A
ICE1	23379	genome.wustl.edu	37	5	5464788	5464788	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:5464788G>A	ENST00000296564.7	+	13	5563	c.5341G>A	c.(5341-5343)Gct>Act	p.A1781T		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1781					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGTCCGCCTGCTGACTGTAA	0.488																																																	0													30.0	30.0	30.0					5																	5464788		1925	4123	6048	SO:0001583	missense	0																														ENST00000296564.7:c.5341G>A	5.37:g.5464788G>A	ENSP00000296564:p.Ala1781Thr		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.A1781T	ENST00000296564.7	37	c.5341	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571509	0.65765	.	.	ENSG00000164151	ENST00000296564	T	0.10960	2.82	5.41	3.52	0.40303	.	.	.	.	.	T	0.09686	0.0238	L	0.47716	1.5	0.09310	N	1	P	0.41848	0.763	B	0.35770	0.21	T	0.19943	-1.0290	9	0.56958	D	0.05	-2.7639	7.7517	0.28901	0.0866:0.0:0.7511:0.1623	.	1781	Q9Y2F5	K0947_HUMAN	T	1781	ENSP00000296564:A1781T	ENSP00000296564:A1781T	A	+	1	0	KIAA0947	5517788	0.000000	0.05858	0.006000	0.13384	0.321000	0.28281	0.250000	0.18235	1.283000	0.44513	0.467000	0.42956	GCT	KIAA0947	-	NULL	ENSG00000164151		0.488	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0.00	81	0	G			5464788	+1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.015	A
ICE1	23379	genome.wustl.edu	37	5	5464788	5464788	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:5464788G>A	ENST00000296564.7	+	13	5563	c.5341G>A	c.(5341-5343)Gct>Act	p.A1781T		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1781					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGTCCGCCTGCTGACTGTAA	0.488																																																	0													30.0	30.0	30.0					5																	5464788		1925	4123	6048	SO:0001583	missense	0																														ENST00000296564.7:c.5341G>A	5.37:g.5464788G>A	ENSP00000296564:p.Ala1781Thr		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.A1781T	ENST00000296564.7	37	c.5341	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571509	0.65765	.	.	ENSG00000164151	ENST00000296564	T	0.10960	2.82	5.41	3.52	0.40303	.	.	.	.	.	T	0.09686	0.0238	L	0.47716	1.5	0.09310	N	1	P	0.41848	0.763	B	0.35770	0.21	T	0.19943	-1.0290	9	0.56958	D	0.05	-2.7639	7.7517	0.28901	0.0866:0.0:0.7511:0.1623	.	1781	Q9Y2F5	K0947_HUMAN	T	1781	ENSP00000296564:A1781T	ENSP00000296564:A1781T	A	+	1	0	KIAA0947	5517788	0.000000	0.05858	0.006000	0.13384	0.321000	0.28281	0.250000	0.18235	1.283000	0.44513	0.467000	0.42956	GCT	KIAA0947	-	NULL	ENSG00000164151		0.488	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0.00	85	0	G			5464788	+1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.015	A
KIAA1107	23285	genome.wustl.edu	37	1	92642532	92642532	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:92642532T>C	ENST00000370378.4	+	5	566	c.468T>C	c.(466-468)aaT>aaC	p.N156N	KIAA1107_ENST00000409154.4_Silent_p.N211N	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	211										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						CAAGTACCAATAGAAATAGTA	0.333																																																	0													48.0	39.0	42.0					1																	92642532		692	1588	2280	SO:0001819	synonymous_variant	0			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.468T>C	1.37:g.92642532T>C			O14767|Q8N3X7	Silent	SNP	NULL	p.N211	ENST00000370378.4	37	c.633	CCDS44172.1	1																																																																																			KIAA1107	-	NULL	ENSG00000069712		0.333	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	-	0.00	106	0	T	XM_034086		92642532	+1	tier1	-	no_errors	ENST00000409154	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.560	C
KIAA1107	23285	genome.wustl.edu	37	1	92642532	92642532	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:92642532T>C	ENST00000370378.4	+	5	566	c.468T>C	c.(466-468)aaT>aaC	p.N156N	KIAA1107_ENST00000409154.4_Silent_p.N211N	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	211										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						CAAGTACCAATAGAAATAGTA	0.333																																																	0													48.0	39.0	42.0					1																	92642532		692	1588	2280	SO:0001819	synonymous_variant	0			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.468T>C	1.37:g.92642532T>C			O14767|Q8N3X7	Silent	SNP	NULL	p.N211	ENST00000370378.4	37	c.633	CCDS44172.1	1																																																																																			KIAA1107	-	NULL	ENSG00000069712		0.333	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	-	0.00	60	0	T	XM_034086		92642532	+1	tier1	-	no_errors	ENST00000409154	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.560	C
KIAA1109	84162	genome.wustl.edu	37	4	123188104	123188104	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:123188104G>A	ENST00000264501.4	+	46	7857	c.7484G>A	c.(7483-7485)aGa>aAa	p.R2495K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2495K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2495K			Q2LD37	K1109_HUMAN	KIAA1109	2495					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAGGCAAAAGAGCAAGAAGG	0.363																																																	0													91.0	85.0	87.0					4																	123188104		1850	4089	5939	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7484G>A	4.37:g.123188104G>A	ENSP00000264501:p.Arg2495Lys		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.R2495K	ENST00000264501.4	37	c.7484	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.21|11.21	1.570700|1.570700	0.28003|0.28003	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.22134	.|2.55;2.55;1.97	5.95|5.95	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.56097	.|U	.|0.000037	T|T	0.12050|0.12050	0.0293|0.0293	N|N	0.08118|0.08118	0|0	0.31377|0.31377	N|N	0.679466|0.679466	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.001	T|T	0.06516|0.06516	-1.0822|-1.0822	5|10	.|0.23891	.|T	.|0.37	.|.	15.1316|15.1316	0.72530|0.72530	0.0676:0.0:0.9324:0.0|0.0676:0.0:0.9324:0.0	.|.	.|2495;2494;2495	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	K|K	1068|2495	.|ENSP00000264501:R2495K;ENSP00000373390:R2495K;ENSP00000389925:R2495K	.|ENSP00000264501:R2495K	E|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123407554|123407554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.824000|0.824000	0.46624|0.46624	4.626000|4.626000	0.61269|0.61269	1.532000|1.532000	0.49169|0.49169	-0.142000|-0.142000	0.14014|0.14014	GAG|AGA	KIAA1109	-	NULL	ENSG00000138688		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0.00	39	0	G	NM_020797		123188104	+1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	A
KIAA1109	84162	genome.wustl.edu	37	4	123188104	123188104	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:123188104G>A	ENST00000264501.4	+	46	7857	c.7484G>A	c.(7483-7485)aGa>aAa	p.R2495K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2495K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2495K			Q2LD37	K1109_HUMAN	KIAA1109	2495					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAGGCAAAAGAGCAAGAAGG	0.363																																																	0													91.0	85.0	87.0					4																	123188104		1850	4089	5939	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7484G>A	4.37:g.123188104G>A	ENSP00000264501:p.Arg2495Lys		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.R2495K	ENST00000264501.4	37	c.7484	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.21|11.21	1.570700|1.570700	0.28003|0.28003	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.22134	.|2.55;2.55;1.97	5.95|5.95	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.56097	.|U	.|0.000037	T|T	0.12050|0.12050	0.0293|0.0293	N|N	0.08118|0.08118	0|0	0.31377|0.31377	N|N	0.679466|0.679466	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.001	T|T	0.06516|0.06516	-1.0822|-1.0822	5|10	.|0.23891	.|T	.|0.37	.|.	15.1316|15.1316	0.72530|0.72530	0.0676:0.0:0.9324:0.0|0.0676:0.0:0.9324:0.0	.|.	.|2495;2494;2495	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	K|K	1068|2495	.|ENSP00000264501:R2495K;ENSP00000373390:R2495K;ENSP00000389925:R2495K	.|ENSP00000264501:R2495K	E|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123407554|123407554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.824000|0.824000	0.46624|0.46624	4.626000|4.626000	0.61269|0.61269	1.532000|1.532000	0.49169|0.49169	-0.142000|-0.142000	0.14014|0.14014	GAG|AGA	KIAA1109	-	NULL	ENSG00000138688		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0.00	50	0	G	NM_020797		123188104	+1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	A
KIAA1755	85449	genome.wustl.edu	37	20	36869850	36869850	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:36869850A>T	ENST00000279024.4	-	3	954	c.683T>A	c.(682-684)cTt>cAt	p.L228H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	228										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGGGCAGGAAGCACCTGGTT	0.592																																																	0													101.0	94.0	96.0					20																	36869850		2203	4300	6503	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.683T>A	20.37:g.36869850A>T	ENSP00000279024:p.Leu228His		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.L228H	ENST00000279024.4	37	c.683	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	A	7.472	0.646827	0.14516	.	.	ENSG00000149633	ENST00000279024	T	0.06068	3.35	5.46	4.37	0.52481	.	0.657852	0.13377	N	0.392401	T	0.14184	0.0343	M	0.65975	2.015	0.09310	N	1	D	0.63880	0.993	P	0.53185	0.72	T	0.16482	-1.0401	10	0.66056	D	0.02	.	6.3853	0.21558	0.8118:0.0:0.1882:0.0	.	228	Q5JYT7	K1755_HUMAN	H	228	ENSP00000279024:L228H	ENSP00000279024:L228H	L	-	2	0	KIAA1755	36303264	0.001000	0.12720	0.037000	0.18230	0.108000	0.19459	0.676000	0.25247	1.102000	0.41551	0.533000	0.62120	CTT	KIAA1755	-	NULL	ENSG00000149633		0.592	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	-	0.00	62	0	A	NM_001029864		36869850	-1	tier1	-	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	45.95	59	51	SNP	0.051	T
KIAA1755	85449	genome.wustl.edu	37	20	36869850	36869850	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:36869850A>T	ENST00000279024.4	-	3	954	c.683T>A	c.(682-684)cTt>cAt	p.L228H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	228										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGGGCAGGAAGCACCTGGTT	0.592																																																	0													101.0	94.0	96.0					20																	36869850		2203	4300	6503	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.683T>A	20.37:g.36869850A>T	ENSP00000279024:p.Leu228His		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.L228H	ENST00000279024.4	37	c.683	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	A	7.472	0.646827	0.14516	.	.	ENSG00000149633	ENST00000279024	T	0.06068	3.35	5.46	4.37	0.52481	.	0.657852	0.13377	N	0.392401	T	0.14184	0.0343	M	0.65975	2.015	0.09310	N	1	D	0.63880	0.993	P	0.53185	0.72	T	0.16482	-1.0401	10	0.66056	D	0.02	.	6.3853	0.21558	0.8118:0.0:0.1882:0.0	.	228	Q5JYT7	K1755_HUMAN	H	228	ENSP00000279024:L228H	ENSP00000279024:L228H	L	-	2	0	KIAA1755	36303264	0.001000	0.12720	0.037000	0.18230	0.108000	0.19459	0.676000	0.25247	1.102000	0.41551	0.533000	0.62120	CTT	KIAA1755	-	NULL	ENSG00000149633		0.592	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	-	0.00	71	0	A	NM_001029864		36869850	-1	tier1	-	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	45.95	59	51	SNP	0.051	T
KIF24	347240	genome.wustl.edu	37	9	34311339	34311339	+	Silent	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:34311339T>A	ENST00000402558.2	-	1	30	c.6A>T	c.(4-6)gcA>gcT	p.A2A	KIF24_ENST00000345050.2_Silent_p.A2A|KIF24_ENST00000379174.3_Silent_p.A2A|KIF24_ENST00000379166.2_Silent_p.A2A			Q5T7B8	KIF24_HUMAN	kinesin family member 24	2	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATAACCAGGATGCCATTTTGG	0.323																																																	0													33.0	31.0	32.0					9																	34311339		1844	4094	5938	SO:0001819	synonymous_variant	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.6A>T	9.37:g.34311339T>A			Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A2	ENST00000402558.2	37	c.6	CCDS6551.2	9																																																																																			KIF24	-	superfamily_SAM/pointed,pfscan_SAM	ENSG00000186638		0.323	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	-	0.00	82	0	T			34311339	-1	tier1	-	no_errors	ENST00000379166	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.998	A
KIF9	64147	genome.wustl.edu	37	3	47287002	47287002	+	Splice_Site	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:47287002C>T	ENST00000265529.3	-	15	1970		c.e15-1		KIF9_ENST00000444589.2_Splice_Site|KIF9_ENST00000452770.2_Splice_Site|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_Splice_Site|KIF9_ENST00000335044.2_Splice_Site|KIF9_ENST00000352910.4_Splice_Site			Q9HAQ2	KIF9_HUMAN	kinesin family member 9						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCCTGTTGGCTTGGGAGACA	0.507																																					Colon(44;962 1147 15977 24541)												0													162.0	133.0	143.0					3																	47287002		2203	4300	6503	SO:0001630	splice_region_variant	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1290-1G>A	3.37:g.47287002C>T			Q86Z28|Q9H8A4	Splice_Site	SNP	-	e13-1	ENST00000265529.3	37	c.1290-1	CCDS2752.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440974	0.83993	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8304	0.85942	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF9	47262006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.515000	0.60489	2.657000	0.90304	0.655000	0.94253	.	KIF9	-	-	ENSG00000088727		0.507	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2	-	0.00	76	0	C		Intron	47287002	-1	tier1	-	no_errors	ENST00000265529	ensembl	human	known	74_37	splice_site	10.42	42	5	SNP	1.000	T
KIF9	64147	genome.wustl.edu	37	3	47287002	47287002	+	Splice_Site	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:47287002C>T	ENST00000265529.3	-	15	1970		c.e15-1		KIF9_ENST00000444589.2_Splice_Site|KIF9_ENST00000452770.2_Splice_Site|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_Splice_Site|KIF9_ENST00000335044.2_Splice_Site|KIF9_ENST00000352910.4_Splice_Site			Q9HAQ2	KIF9_HUMAN	kinesin family member 9						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCCTGTTGGCTTGGGAGACA	0.507																																					Colon(44;962 1147 15977 24541)												0													162.0	133.0	143.0					3																	47287002		2203	4300	6503	SO:0001630	splice_region_variant	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1290-1G>A	3.37:g.47287002C>T			Q86Z28|Q9H8A4	Splice_Site	SNP	-	e13-1	ENST00000265529.3	37	c.1290-1	CCDS2752.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440974	0.83993	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8304	0.85942	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF9	47262006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.515000	0.60489	2.657000	0.90304	0.655000	0.94253	.	KIF9	-	-	ENSG00000088727		0.507	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2	-	0.00	77	0	C		Intron	47287002	-1	tier1	-	no_errors	ENST00000265529	ensembl	human	known	74_37	splice_site	10.42	42	5	SNP	1.000	T
KLK3	354	genome.wustl.edu	37	19	51362846	51362846	+	Intron	SNP	C	C	A	rs143518180	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:51362846C>A	ENST00000326003.2	+	5	671				KLK3_ENST00000595952.1_Intron|KLK3_ENST00000360617.3_Missense_Mutation_p.L231I|KLK3_ENST00000597483.1_Missense_Mutation_p.L188I	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3						cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CCATGGCTCCCTAGTGCCCTG	0.597																																					Colon(185;1767 2023 13025 30120 37630)												0													109.0	90.0	96.0					19																	51362846		2203	4300	6503	SO:0001627	intron_variant	0			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.631-382C>A	19.37:g.51362846C>A			C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L231I	ENST00000326003.2	37	c.691	CCDS12807.1	19	.	.	.	.	.	.	.	.	.	.	c	2.967	-0.213309	0.06140	.	.	ENSG00000142515	ENST00000360617	D	0.88354	-2.37	1.21	-1.12	0.09808	.	.	.	.	.	T	0.70491	0.3230	N	0.02685	-0.53	0.21355	N	0.999719	B	0.20368	0.044	B	0.14023	0.01	T	0.60094	-0.7330	9	0.87932	D	0	.	3.9709	0.09452	0.0:0.5269:0.0:0.4731	.	231	G3XAE3	.	I	231	ENSP00000353829:L231I	ENSP00000353829:L231I	L	+	1	2	KLK3	56054658	0.000000	0.05858	0.029000	0.17559	0.125000	0.20455	0.563000	0.23547	-0.328000	0.08539	0.400000	0.26472	CTA	KLK3	-	NULL	ENSG00000142515		0.597	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK3	HGNC	protein_coding	OTTHUMT00000464067.1	-	0.00	60	0	C	NM_145864		51362846	+1	tier1	-	no_errors	ENST00000360617	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.190	A
KLK3	354	genome.wustl.edu	37	19	51362846	51362846	+	Intron	SNP	C	C	A	rs143518180	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:51362846C>A	ENST00000326003.2	+	5	671				KLK3_ENST00000595952.1_Intron|KLK3_ENST00000360617.3_Missense_Mutation_p.L231I|KLK3_ENST00000597483.1_Missense_Mutation_p.L188I	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3						cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CCATGGCTCCCTAGTGCCCTG	0.597																																					Colon(185;1767 2023 13025 30120 37630)												0													109.0	90.0	96.0					19																	51362846		2203	4300	6503	SO:0001627	intron_variant	0			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.631-382C>A	19.37:g.51362846C>A			C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L231I	ENST00000326003.2	37	c.691	CCDS12807.1	19	.	.	.	.	.	.	.	.	.	.	c	2.967	-0.213309	0.06140	.	.	ENSG00000142515	ENST00000360617	D	0.88354	-2.37	1.21	-1.12	0.09808	.	.	.	.	.	T	0.70491	0.3230	N	0.02685	-0.53	0.21355	N	0.999719	B	0.20368	0.044	B	0.14023	0.01	T	0.60094	-0.7330	9	0.87932	D	0	.	3.9709	0.09452	0.0:0.5269:0.0:0.4731	.	231	G3XAE3	.	I	231	ENSP00000353829:L231I	ENSP00000353829:L231I	L	+	1	2	KLK3	56054658	0.000000	0.05858	0.029000	0.17559	0.125000	0.20455	0.563000	0.23547	-0.328000	0.08539	0.400000	0.26472	CTA	KLK3	-	NULL	ENSG00000142515		0.597	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK3	HGNC	protein_coding	OTTHUMT00000464067.1	-	0.00	74	0	C	NM_145864		51362846	+1	tier1	-	no_errors	ENST00000360617	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.190	A
KNG1	3827	genome.wustl.edu	37	3	186440291	186440291	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:186440291G>T	ENST00000265023.4	+	3	584	c.372G>T	c.(370-372)caG>caT	p.Q124H	KNG1_ENST00000447445.1_Missense_Mutation_p.Q124H|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.Q124H	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	124	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.|O-glycosylated at one site only.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.Q124H(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGGCTACCCAGACCTGCCAGA	0.493																																																	2	Substitution - Missense(2)	lung(2)											113.0	101.0	105.0					3																	186440291		2203	4300	6503	SO:0001583	missense	0				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.372G>T	3.37:g.186440291G>T	ENSP00000265023:p.Gln124His		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen	p.Q124H	ENST00000265023.4	37	c.372	CCDS43183.1	3	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367758	0.42003	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.12879	2.64;2.64;2.64	4.67	4.67	0.58626	Proteinase inhibitor I25, cystatin (1);	0.000000	0.56097	D	0.000040	T	0.36690	0.0976	M	0.76328	2.33	0.43088	D	0.994753	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.10543	-1.0625	10	0.56958	D	0.05	-6.0015	13.7929	0.63152	0.0:0.0:1.0:0.0	.	124;124	P01042;P01042-2	KNG1_HUMAN;.	H	124;124;124;112	ENSP00000287611:Q124H;ENSP00000265023:Q124H;ENSP00000396025:Q124H	ENSP00000265023:Q124H	Q	+	3	2	KNG1	187922985	1.000000	0.71417	0.997000	0.53966	0.098000	0.18820	2.024000	0.41049	2.523000	0.85059	0.561000	0.74099	CAG	KNG1	-	smart_Prot_inh_cystat	ENSG00000113889		0.493	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KNG1	HGNC	protein_coding	OTTHUMT00000317738.1	-	0.00	102	0	G	NM_001102416		186440291	+1	tier1	-	no_errors	ENST00000265023	ensembl	human	known	74_37	missense	6.02	77	5	SNP	1.000	T
KNG1	3827	genome.wustl.edu	37	3	186440291	186440291	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:186440291G>T	ENST00000265023.4	+	3	584	c.372G>T	c.(370-372)caG>caT	p.Q124H	KNG1_ENST00000447445.1_Missense_Mutation_p.Q124H|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.Q124H	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	124	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.|O-glycosylated at one site only.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.Q124H(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGGCTACCCAGACCTGCCAGA	0.493																																																	2	Substitution - Missense(2)	lung(2)											113.0	101.0	105.0					3																	186440291		2203	4300	6503	SO:0001583	missense	0				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.372G>T	3.37:g.186440291G>T	ENSP00000265023:p.Gln124His		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen	p.Q124H	ENST00000265023.4	37	c.372	CCDS43183.1	3	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367758	0.42003	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.12879	2.64;2.64;2.64	4.67	4.67	0.58626	Proteinase inhibitor I25, cystatin (1);	0.000000	0.56097	D	0.000040	T	0.36690	0.0976	M	0.76328	2.33	0.43088	D	0.994753	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.10543	-1.0625	10	0.56958	D	0.05	-6.0015	13.7929	0.63152	0.0:0.0:1.0:0.0	.	124;124	P01042;P01042-2	KNG1_HUMAN;.	H	124;124;124;112	ENSP00000287611:Q124H;ENSP00000265023:Q124H;ENSP00000396025:Q124H	ENSP00000265023:Q124H	Q	+	3	2	KNG1	187922985	1.000000	0.71417	0.997000	0.53966	0.098000	0.18820	2.024000	0.41049	2.523000	0.85059	0.561000	0.74099	CAG	KNG1	-	smart_Prot_inh_cystat	ENSG00000113889		0.493	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KNG1	HGNC	protein_coding	OTTHUMT00000317738.1	-	0.00	119	0	G	NM_001102416		186440291	+1	tier1	-	no_errors	ENST00000265023	ensembl	human	known	74_37	missense	6.02	77	5	SNP	1.000	T
KRAS	3845	genome.wustl.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	153	Substitution - Missense(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)											109.0	98.0	102.0					12																	25380275		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>C	12.37:g.25380275T>G	ENSP00000256078:p.Gln61His		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q61H	ENST00000256078.4	37	c.183	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000133703		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	-	0.00	64	0	T	NM_033360		25380275	-1	tier1	rs17851045	no_errors	ENST00000256078	ensembl	human	known	74_37	missense	7.84	46	4	SNP	1.000	G
KRAS	3845	genome.wustl.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	153	Substitution - Missense(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)											109.0	98.0	102.0					12																	25380275		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>C	12.37:g.25380275T>G	ENSP00000256078:p.Gln61His		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q61H	ENST00000256078.4	37	c.183	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000133703		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	-	0.00	74	0	T	NM_033360		25380275	-1	tier1	rs17851045	no_errors	ENST00000256078	ensembl	human	known	74_37	missense	7.84	46	4	SNP	1.000	G
KREMEN1	83999	genome.wustl.edu	37	22	29533335	29533335	+	Missense_Mutation	SNP	G	G	T	rs377602415		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:29533335G>T	ENST00000407188.1	+	6	631	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	KREMEN1_ENST00000327813.5_Missense_Mutation_p.V213L|KREMEN1_ENST00000400338.2_Missense_Mutation_p.V213L|KREMEN1_ENST00000400335.4_Missense_Mutation_p.V213L			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	211					cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						TACAGCTCTCGTGGGCGCCTG	0.587																																																	0													75.0	77.0	76.0					22																	29533335		1966	4143	6109	SO:0001583	missense	0			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.631G>T	22.37:g.29533335G>T	ENSP00000385431:p.Val211Leu		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.V213L	ENST00000407188.1	37	c.637	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252597	0.22880	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.60672	0.2;0.17;0.19;0.17	5.14	1.91	0.25777	.	0.327204	0.24927	N	0.034496	T	0.46658	0.1404	L	0.48642	1.525	0.23174	N	0.998178	B;B;B	0.28783	0.072;0.222;0.206	B;B;B	0.32289	0.024;0.072;0.143	T	0.32877	-0.9890	10	0.33141	T	0.24	.	7.4301	0.27122	0.3487:0.0:0.6513:0.0	.	211;213;213	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	L	213;213;213;211	ENSP00000383189:V213L;ENSP00000383192:V213L;ENSP00000331242:V213L;ENSP00000385431:V211L	ENSP00000331242:V213L	V	+	1	0	KREMEN1	27863335	1.000000	0.71417	0.004000	0.12327	0.249000	0.25844	4.379000	0.59575	0.297000	0.22615	-0.229000	0.12294	GTG	KREMEN1	-	pirsf_Kremen	ENSG00000183762		0.587	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	-	0.00	54	0	G			29533335	+1	tier1	-	no_errors	ENST00000327813	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.211	T
KRIT1	889	genome.wustl.edu	37	7	91842564	91842564	+	Missense_Mutation	SNP	G	G	A	rs527290163		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:91842564G>A	ENST00000340022.2	-	17	2988	c.1970C>T	c.(1969-1971)cCt>cTt	p.P657L	KRIT1_ENST00000394505.2_Missense_Mutation_p.P657L|KRIT1_ENST00000412043.2_Missense_Mutation_p.P657L|KRIT1_ENST00000394507.1_Missense_Mutation_p.P657L|KRIT1_ENST00000394503.2_Missense_Mutation_p.P609L	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	657	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACATACACAGGGATGACTTT	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18694	0.0		0.0	False		,,,				2504	0.0																0													169.0	157.0	161.0					7																	91842564		2203	4300	6503	SO:0001583	missense	0			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1970C>T	7.37:g.91842564G>A	ENSP00000344668:p.Pro657Leu		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain	p.P657L	ENST00000340022.2	37	c.1970	CCDS5624.1	7	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508802	0.44660	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503	T;T;T;T;T	0.71817	0.91;0.91;0.91;0.91;-0.6	6.17	5.28	0.74379	FERM domain (1);	0.131674	0.49305	D	0.000149	T	0.50599	0.1625	N	0.12182	0.205	0.53005	D	0.99996	B;B;B	0.14805	0.011;0.011;0.011	B;B;B	0.14023	0.01;0.006;0.01	T	0.46762	-0.9168	10	0.41790	T	0.15	4.2976	9.2905	0.37784	0.0:0.3251:0.5452:0.1297	.	657;609;657	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	L	657;657;657;657;609	ENSP00000378015:P657L;ENSP00000344668:P657L;ENSP00000410909:P657L;ENSP00000378013:P657L;ENSP00000378011:P609L	ENSP00000344668:P657L	P	-	2	0	KRIT1	91680500	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.644000	0.61397	2.941000	0.99782	0.655000	0.94253	CCT	KRIT1	-	pfscan_FERM_domain	ENSG00000001631		0.363	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRIT1	HGNC	protein_coding	OTTHUMT00000253910.1	-	0.00	32	0	G			91842564	-1	tier1	-	no_errors	ENST00000340022	ensembl	human	known	74_37	missense	5.29	392	22	SNP	1.000	A
KRIT1	889	genome.wustl.edu	37	7	91842564	91842564	+	Missense_Mutation	SNP	G	G	A	rs527290163		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:91842564G>A	ENST00000340022.2	-	17	2988	c.1970C>T	c.(1969-1971)cCt>cTt	p.P657L	KRIT1_ENST00000394505.2_Missense_Mutation_p.P657L|KRIT1_ENST00000412043.2_Missense_Mutation_p.P657L|KRIT1_ENST00000394507.1_Missense_Mutation_p.P657L|KRIT1_ENST00000394503.2_Missense_Mutation_p.P609L	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	657	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACATACACAGGGATGACTTT	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18694	0.0		0.0	False		,,,				2504	0.0																0													169.0	157.0	161.0					7																	91842564		2203	4300	6503	SO:0001583	missense	0			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1970C>T	7.37:g.91842564G>A	ENSP00000344668:p.Pro657Leu		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain	p.P657L	ENST00000340022.2	37	c.1970	CCDS5624.1	7	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508802	0.44660	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503	T;T;T;T;T	0.71817	0.91;0.91;0.91;0.91;-0.6	6.17	5.28	0.74379	FERM domain (1);	0.131674	0.49305	D	0.000149	T	0.50599	0.1625	N	0.12182	0.205	0.53005	D	0.99996	B;B;B	0.14805	0.011;0.011;0.011	B;B;B	0.14023	0.01;0.006;0.01	T	0.46762	-0.9168	10	0.41790	T	0.15	4.2976	9.2905	0.37784	0.0:0.3251:0.5452:0.1297	.	657;609;657	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	L	657;657;657;657;609	ENSP00000378015:P657L;ENSP00000344668:P657L;ENSP00000410909:P657L;ENSP00000378013:P657L;ENSP00000378011:P609L	ENSP00000344668:P657L	P	-	2	0	KRIT1	91680500	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.644000	0.61397	2.941000	0.99782	0.655000	0.94253	CCT	KRIT1	-	pfscan_FERM_domain	ENSG00000001631		0.363	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRIT1	HGNC	protein_coding	OTTHUMT00000253910.1	-	0.00	72	0	G			91842564	-1	tier1	-	no_errors	ENST00000340022	ensembl	human	known	74_37	missense	5.29	392	22	SNP	1.000	A
KRT24	192666	genome.wustl.edu	37	17	38859476	38859476	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:38859476T>G	ENST00000264651.2	-	1	526	c.470A>C	c.(469-471)aAg>aCg	p.K157T		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	157	Coil 1A.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGCTCTGACCTTGTCTAGGTA	0.532																																					GBM(61;380 1051 14702 23642 31441)												0													206.0	205.0	206.0					17																	38859476		2203	4300	6503	SO:0001583	missense	0				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.470A>C	17.37:g.38859476T>G	ENSP00000264651:p.Lys157Thr		Q9NXG7	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.K157T	ENST00000264651.2	37	c.470	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733847	0.89482	.	.	ENSG00000167916	ENST00000264651	D	0.93953	-3.32	5.6	5.6	0.85130	Filament (1);	.	.	.	.	D	0.97028	0.9029	M	0.88906	2.99	0.53688	D	0.999979	D	0.76494	0.999	D	0.73708	0.981	D	0.97762	1.0221	9	0.87932	D	0	.	15.2574	0.73596	0.0:0.0:0.0:1.0	.	157	Q2M2I5	K1C24_HUMAN	T	157	ENSP00000264651:K157T	ENSP00000264651:K157T	K	-	2	0	KRT24	36113002	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.078000	0.64425	2.259000	0.74868	0.533000	0.62120	AAG	KRT24	-	pfam_IF	ENSG00000167916		0.532	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	-	0.00	60	0	T	NM_019016		38859476	-1	tier1	-	no_errors	ENST00000264651	ensembl	human	known	74_37	missense	8.53	118	11	SNP	1.000	G
KRT26	353288	genome.wustl.edu	37	17	38928284	38928284	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:38928284A>C	ENST00000335552.4	-	1	130	c.82T>G	c.(82-84)Ttc>Gtc	p.F28V		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCAGCCACGAAGCCTGTTCCT	0.562																																																	0													116.0	119.0	118.0					17																	38928284		2203	4300	6503	SO:0001583	missense	0			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.82T>G	17.37:g.38928284A>C	ENSP00000334798:p.Phe28Val			Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.F28V	ENST00000335552.4	37	c.82	CCDS11374.1	17	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177410	0.38413	.	.	ENSG00000186393	ENST00000335552	D	0.82711	-1.64	5.39	4.3	0.51218	.	0.370853	0.23541	N	0.047062	T	0.73179	0.3554	N	0.19112	0.55	0.20821	N	0.999845	B	0.27117	0.168	B	0.34824	0.19	T	0.65364	-0.6186	10	0.44086	T	0.13	.	10.2092	0.43131	0.922:0.0:0.078:0.0	.	28	Q7Z3Y9	K1C26_HUMAN	V	28	ENSP00000334798:F28V	ENSP00000334798:F28V	F	-	1	0	KRT26	36181810	0.041000	0.20044	0.099000	0.21106	0.710000	0.40934	1.208000	0.32345	2.173000	0.68751	0.533000	0.62120	TTC	KRT26	-	NULL	ENSG00000186393		0.562	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT26	HGNC	protein_coding	OTTHUMT00000257215.1	-	0.00	102	0	A	NM_181539		38928284	-1	tier1	-	no_errors	ENST00000335552	ensembl	human	known	74_37	missense	10.00	98	11	SNP	0.277	C
KRT26	353288	genome.wustl.edu	37	17	38928284	38928284	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:38928284A>C	ENST00000335552.4	-	1	130	c.82T>G	c.(82-84)Ttc>Gtc	p.F28V		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCAGCCACGAAGCCTGTTCCT	0.562																																																	0													116.0	119.0	118.0					17																	38928284		2203	4300	6503	SO:0001583	missense	0			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.82T>G	17.37:g.38928284A>C	ENSP00000334798:p.Phe28Val			Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.F28V	ENST00000335552.4	37	c.82	CCDS11374.1	17	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177410	0.38413	.	.	ENSG00000186393	ENST00000335552	D	0.82711	-1.64	5.39	4.3	0.51218	.	0.370853	0.23541	N	0.047062	T	0.73179	0.3554	N	0.19112	0.55	0.20821	N	0.999845	B	0.27117	0.168	B	0.34824	0.19	T	0.65364	-0.6186	10	0.44086	T	0.13	.	10.2092	0.43131	0.922:0.0:0.078:0.0	.	28	Q7Z3Y9	K1C26_HUMAN	V	28	ENSP00000334798:F28V	ENSP00000334798:F28V	F	-	1	0	KRT26	36181810	0.041000	0.20044	0.099000	0.21106	0.710000	0.40934	1.208000	0.32345	2.173000	0.68751	0.533000	0.62120	TTC	KRT26	-	NULL	ENSG00000186393		0.562	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT26	HGNC	protein_coding	OTTHUMT00000257215.1	-	0.00	70	0	A	NM_181539		38928284	-1	tier1	-	no_errors	ENST00000335552	ensembl	human	known	74_37	missense	10.00	98	11	SNP	0.277	C
KRT27	342574	genome.wustl.edu	37	17	38938665	38938665	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:38938665T>G	ENST00000301656.3	-	1	121	c.81A>C	c.(79-81)ggA>ggC	p.G27G		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAAAGCCTGCTCCCCCACTAG	0.602																																																	0													52.0	49.0	50.0					17																	38938665		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.81A>C	17.37:g.38938665T>G				Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.G27	ENST00000301656.3	37	c.81	CCDS11375.1	17																																																																																			KRT27	-	NULL	ENSG00000171446		0.602	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	-	0.00	55	0	T	NM_181537		38938665	-1	tier1	-	no_errors	ENST00000301656	ensembl	human	known	74_37	silent	6.82	81	6	SNP	0.009	G
KRT27	342574	genome.wustl.edu	37	17	38938665	38938665	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:38938665T>G	ENST00000301656.3	-	1	121	c.81A>C	c.(79-81)ggA>ggC	p.G27G		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAAAGCCTGCTCCCCCACTAG	0.602																																																	0													52.0	49.0	50.0					17																	38938665		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.81A>C	17.37:g.38938665T>G				Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.G27	ENST00000301656.3	37	c.81	CCDS11375.1	17																																																																																			KRT27	-	NULL	ENSG00000171446		0.602	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	-	0.00	69	0	T	NM_181537		38938665	-1	tier1	-	no_errors	ENST00000301656	ensembl	human	known	74_37	silent	6.82	81	6	SNP	0.009	G
KRT85	3891	genome.wustl.edu	37	12	52756165	52756165	+	Missense_Mutation	SNP	C	C	A	rs184848860		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:52756165C>A	ENST00000257901.3	-	7	1243	c.1168G>T	c.(1168-1170)Ggc>Tgc	p.G390C	KRT85_ENST00000544265.1_Missense_Mutation_p.G178C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	390	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCAGGGCGCCCTCCAGCTCA	0.642																																																	0													58.0	54.0	55.0					12																	52756165		2203	4300	6503	SO:0001583	missense	0			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1168G>T	12.37:g.52756165C>A	ENSP00000257901:p.Gly390Cys		Q9NSB1	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G390C	ENST00000257901.3	37	c.1168	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113124	0.37339	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.88818	-2.43;-2.43	5.16	4.27	0.50696	Filament (1);	2.886840	0.01159	N	0.006588	D	0.88955	0.6578	L	0.49455	1.56	0.38205	D	0.940316	B	0.06786	0.001	B	0.17979	0.02	T	0.65738	-0.6095	10	0.49607	T	0.09	.	13.6794	0.62474	0.0:0.9253:0.0:0.0747	.	390	P78386	KRT85_HUMAN	C	390;178	ENSP00000257901:G390C;ENSP00000440240:G178C	ENSP00000257901:G390C	G	-	1	0	KRT85	51042432	0.614000	0.27017	0.832000	0.32986	0.465000	0.32709	1.768000	0.38511	1.190000	0.43042	-0.258000	0.10820	GGC	KRT85	-	pfam_IF,superfamily_Prefoldin	ENSG00000135443		0.642	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	-	0.00	52	0	C	NM_002283		52756165	-1	tier1	-	no_errors	ENST00000257901	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.999	A
KRT85	3891	genome.wustl.edu	37	12	52756165	52756165	+	Missense_Mutation	SNP	C	C	A	rs184848860		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:52756165C>A	ENST00000257901.3	-	7	1243	c.1168G>T	c.(1168-1170)Ggc>Tgc	p.G390C	KRT85_ENST00000544265.1_Missense_Mutation_p.G178C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	390	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCAGGGCGCCCTCCAGCTCA	0.642																																																	0													58.0	54.0	55.0					12																	52756165		2203	4300	6503	SO:0001583	missense	0			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1168G>T	12.37:g.52756165C>A	ENSP00000257901:p.Gly390Cys		Q9NSB1	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G390C	ENST00000257901.3	37	c.1168	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113124	0.37339	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.88818	-2.43;-2.43	5.16	4.27	0.50696	Filament (1);	2.886840	0.01159	N	0.006588	D	0.88955	0.6578	L	0.49455	1.56	0.38205	D	0.940316	B	0.06786	0.001	B	0.17979	0.02	T	0.65738	-0.6095	10	0.49607	T	0.09	.	13.6794	0.62474	0.0:0.9253:0.0:0.0747	.	390	P78386	KRT85_HUMAN	C	390;178	ENSP00000257901:G390C;ENSP00000440240:G178C	ENSP00000257901:G390C	G	-	1	0	KRT85	51042432	0.614000	0.27017	0.832000	0.32986	0.465000	0.32709	1.768000	0.38511	1.190000	0.43042	-0.258000	0.10820	GGC	KRT85	-	pfam_IF,superfamily_Prefoldin	ENSG00000135443		0.642	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	-	0.00	56	0	C	NM_002283		52756165	-1	tier1	-	no_errors	ENST00000257901	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.999	A
KRT84	3890	genome.wustl.edu	37	12	52777380	52777380	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:52777380T>A	ENST00000257951.3	-	2	815	c.749A>T	c.(748-750)aAg>aTg	p.K250M	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	250	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACTTCTTCTTGAAGCCCTC	0.577																																																	0													53.0	50.0	51.0					12																	52777380		2203	4300	6503	SO:0001583	missense	0			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.749A>T	12.37:g.52777380T>A	ENSP00000257951:p.Lys250Met		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.K250M	ENST00000257951.3	37	c.749	CCDS8825.1	12	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144734	0.77888	.	.	ENSG00000161849	ENST00000257951	D	0.90900	-2.75	5.22	4.07	0.47477	Filament (1);	0.125473	0.36778	N	0.002408	D	0.96676	0.8915	H	0.97659	4.05	0.44352	D	0.997248	D	0.89917	1.0	D	0.81914	0.995	D	0.96754	0.9556	10	0.87932	D	0	.	11.1356	0.48373	0.0:0.0722:0.0:0.9278	.	250	Q9NSB2	KRT84_HUMAN	M	250	ENSP00000257951:K250M	ENSP00000257951:K250M	K	-	2	0	KRT84	51063647	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.996000	0.63914	1.114000	0.41781	0.477000	0.44152	AAG	KRT84	-	pfam_IF,prints_Keratin_II,prints_Keratin_I	ENSG00000161849		0.577	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	HGNC	protein_coding	OTTHUMT00000405187.1	-	0.00	48	0	T	NM_033045		52777380	-1	tier1	-	no_errors	ENST00000257951	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A
KRT84	3890	genome.wustl.edu	37	12	52777380	52777380	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:52777380T>A	ENST00000257951.3	-	2	815	c.749A>T	c.(748-750)aAg>aTg	p.K250M	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	250	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACTTCTTCTTGAAGCCCTC	0.577																																																	0													53.0	50.0	51.0					12																	52777380		2203	4300	6503	SO:0001583	missense	0			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.749A>T	12.37:g.52777380T>A	ENSP00000257951:p.Lys250Met		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.K250M	ENST00000257951.3	37	c.749	CCDS8825.1	12	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144734	0.77888	.	.	ENSG00000161849	ENST00000257951	D	0.90900	-2.75	5.22	4.07	0.47477	Filament (1);	0.125473	0.36778	N	0.002408	D	0.96676	0.8915	H	0.97659	4.05	0.44352	D	0.997248	D	0.89917	1.0	D	0.81914	0.995	D	0.96754	0.9556	10	0.87932	D	0	.	11.1356	0.48373	0.0:0.0722:0.0:0.9278	.	250	Q9NSB2	KRT84_HUMAN	M	250	ENSP00000257951:K250M	ENSP00000257951:K250M	K	-	2	0	KRT84	51063647	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.996000	0.63914	1.114000	0.41781	0.477000	0.44152	AAG	KRT84	-	pfam_IF,prints_Keratin_II,prints_Keratin_I	ENSG00000161849		0.577	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	HGNC	protein_coding	OTTHUMT00000405187.1	-	0.00	51	0	T	NM_033045		52777380	-1	tier1	-	no_errors	ENST00000257951	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A
KRT76	51350	genome.wustl.edu	37	12	53162830	53162830	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:53162830C>A	ENST00000332411.2	-	9	1637	c.1584G>T	c.(1582-1584)ggG>ggT	p.G528G		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	528	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						tgccactgACCCCTCCAAAAA	0.597																																																	0													19.0	16.0	17.0					12																	53162830		2056	4023	6079	SO:0001819	synonymous_variant	0			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1584G>T	12.37:g.53162830C>A			B4DRR3|Q7Z795	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.G528	ENST00000332411.2	37	c.1584	CCDS8838.1	12																																																																																			KRT76	-	NULL	ENSG00000185069		0.597	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	-	0.00	64	0	C	NM_015848		53162830	-1	tier1	-	no_errors	ENST00000332411	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.140	A
KRT76	51350	genome.wustl.edu	37	12	53162830	53162830	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:53162830C>A	ENST00000332411.2	-	9	1637	c.1584G>T	c.(1582-1584)ggG>ggT	p.G528G		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	528	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						tgccactgACCCCTCCAAAAA	0.597																																																	0													19.0	16.0	17.0					12																	53162830		2056	4023	6079	SO:0001819	synonymous_variant	0			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1584G>T	12.37:g.53162830C>A			B4DRR3|Q7Z795	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.G528	ENST00000332411.2	37	c.1584	CCDS8838.1	12																																																																																			KRT76	-	NULL	ENSG00000185069		0.597	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	-	0.00	75	0	C	NM_015848		53162830	-1	tier1	-	no_errors	ENST00000332411	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.140	A
KRT4	3851	genome.wustl.edu	37	12	53202111	53202111	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:53202111C>T	ENST00000551956.1	-	6	1584	c.1092G>A	c.(1090-1092)agG>agA	p.R364R	KRT4_ENST00000293774.4_Silent_p.R438R|KRT4_ENST00000458244.2_Silent_p.R344R			P19013	K2C4_HUMAN	keratin 4	378	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTGCCCGCAGCCTCTGGATCA	0.542																																					Pancreas(190;284 2995 41444 45903)												0													160.0	165.0	163.0					12																	53202111		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1092G>A	12.37:g.53202111C>T			F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.R438	ENST00000551956.1	37	c.1314	CCDS41787.2	12																																																																																			KRT4	-	pfam_IF,superfamily_Prefoldin	ENSG00000170477		0.542	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	-	0.00	30	0	C	NM_002272		53202111	-1	tier1	-	no_errors	ENST00000293774	ensembl	human	known	74_37	silent	12.24	43	6	SNP	0.998	T
KRT4	3851	genome.wustl.edu	37	12	53202111	53202111	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:53202111C>T	ENST00000551956.1	-	6	1584	c.1092G>A	c.(1090-1092)agG>agA	p.R364R	KRT4_ENST00000293774.4_Silent_p.R438R|KRT4_ENST00000458244.2_Silent_p.R344R			P19013	K2C4_HUMAN	keratin 4	378	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTGCCCGCAGCCTCTGGATCA	0.542																																					Pancreas(190;284 2995 41444 45903)												0													160.0	165.0	163.0					12																	53202111		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1092G>A	12.37:g.53202111C>T			F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.R438	ENST00000551956.1	37	c.1314	CCDS41787.2	12																																																																																			KRT4	-	pfam_IF,superfamily_Prefoldin	ENSG00000170477		0.542	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	-	0.00	41	0	C	NM_002272		53202111	-1	tier1	-	no_errors	ENST00000293774	ensembl	human	known	74_37	silent	12.24	43	6	SNP	0.998	T
KTN1	3895	genome.wustl.edu	37	14	56113725	56113725	+	Splice_Site	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:56113725G>T	ENST00000395314.3	+	19	2275	c.2207G>T	c.(2206-2208)tGc>tTc	p.C736F	KTN1_ENST00000416613.1_Splice_Site_p.C736F|KTN1_ENST00000438792.2_Splice_Site_p.C736F|KTN1_ENST00000554507.1_Splice_Site_p.C31F|KTN1_ENST00000395309.3_Splice_Site_p.C736F|KTN1_ENST00000395308.1_Splice_Site_p.C736F|KTN1_ENST00000413890.2_Splice_Site_p.C736F|KTN1_ENST00000395311.1_Splice_Site_p.C736F	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	736					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ATGGAAAAATGGTAAGAGTTT	0.254			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													87.0	88.0	87.0					14																	56113725		2201	4290	6491	SO:0001630	splice_region_variant	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2207+1G>T	14.37:g.56113725G>T			B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.C736F	ENST00000395314.3	37	c.2207	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986459	0.53934	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000554890	T;T;T;T;T;T;T;T	0.42513	1.52;1.53;1.47;1.53;1.52;1.52;1.53;0.97	4.48	3.55	0.40652	.	0.338094	0.25587	N	0.029651	T	0.45357	0.1338	L	0.29908	0.895	0.42190	D	0.991728	D;D;D;P;D	0.62365	0.98;0.987;0.991;0.816;0.98	P;P;P;P;P	0.55713	0.648;0.782;0.735;0.477;0.648	T	0.48843	-0.8999	10	0.56958	D	0.05	-2.1272	14.5718	0.68216	0.0:0.1473:0.8527:0.0	.	736;31;736;736;736	B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;KTN1_HUMAN	F	736;736;736;736;736;736;736;31;31	ENSP00000394992:C736F;ENSP00000378720:C736F;ENSP00000391964:C736F;ENSP00000378725:C736F;ENSP00000378719:C736F;ENSP00000378722:C736F;ENSP00000388807:C736F;ENSP00000452073:C31F	ENSP00000378719:C736F	C	+	2	0	KTN1	55183478	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.877000	0.69675	1.165000	0.42670	0.585000	0.79938	TGC	KTN1	-	NULL	ENSG00000126777		0.254	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2		0.00	79	0	G		Missense_Mutation	56113725	+1			no_errors	ENST00000395309	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
L3MBTL4	91133	genome.wustl.edu	37	18	6171845	6171845	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:6171845G>A	ENST00000284898.6	-	13	1278	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	L3MBTL4_ENST00000400104.3_Missense_Mutation_p.P360S|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P360S|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.P173S|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P360S	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	360					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACTTCCAGTGGATGCCCTGTG	0.468																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													104.0	73.0	84.0					18																	6171845		2195	4280	6475	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1078C>T	18.37:g.6171845G>A	ENSP00000284898:p.Pro360Ser		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.P360S	ENST00000284898.6	37	c.1078	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057877	0.55325	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.71	5.71	0.89125	.	0.074340	0.53938	D	0.000050	T	0.66896	0.2836	M	0.65975	2.015	0.46458	D	0.999058	D;D	0.89917	0.987;1.0	P;D	0.79108	0.536;0.992	T	0.67952	-0.5537	10	0.62326	D	0.03	.	15.3451	0.74330	0.0:0.0:1.0:0.0	.	360;360	Q8NA19;F8W9S8	LMBL4_HUMAN;.	S	360;360;360;173;360	ENSP00000382976:P360S;ENSP00000318543:P360S;ENSP00000284898:P360S;ENSP00000444774:P173S;ENSP00000382975:P360S	ENSP00000284898:P360S	P	-	1	0	L3MBTL4	6161845	1.000000	0.71417	0.918000	0.36340	0.074000	0.17049	3.585000	0.53943	2.698000	0.92095	0.650000	0.86243	CCA	L3MBTL4	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000154655		0.468	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0.00	60	0	G	NM_173464		6171845	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	missense	32.08	36	17	SNP	1.000	A
L3MBTL4	91133	genome.wustl.edu	37	18	6171845	6171845	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:6171845G>A	ENST00000284898.6	-	13	1278	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	L3MBTL4_ENST00000400104.3_Missense_Mutation_p.P360S|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P360S|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.P173S|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P360S	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	360					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACTTCCAGTGGATGCCCTGTG	0.468																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													104.0	73.0	84.0					18																	6171845		2195	4280	6475	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1078C>T	18.37:g.6171845G>A	ENSP00000284898:p.Pro360Ser		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.P360S	ENST00000284898.6	37	c.1078	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057877	0.55325	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.71	5.71	0.89125	.	0.074340	0.53938	D	0.000050	T	0.66896	0.2836	M	0.65975	2.015	0.46458	D	0.999058	D;D	0.89917	0.987;1.0	P;D	0.79108	0.536;0.992	T	0.67952	-0.5537	10	0.62326	D	0.03	.	15.3451	0.74330	0.0:0.0:1.0:0.0	.	360;360	Q8NA19;F8W9S8	LMBL4_HUMAN;.	S	360;360;360;173;360	ENSP00000382976:P360S;ENSP00000318543:P360S;ENSP00000284898:P360S;ENSP00000444774:P173S;ENSP00000382975:P360S	ENSP00000284898:P360S	P	-	1	0	L3MBTL4	6161845	1.000000	0.71417	0.918000	0.36340	0.074000	0.17049	3.585000	0.53943	2.698000	0.92095	0.650000	0.86243	CCA	L3MBTL4	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000154655		0.468	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0.00	81	0	G	NM_173464		6171845	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	missense	32.08	36	17	SNP	1.000	A
LAMA1	284217	genome.wustl.edu	37	18	6985297	6985297	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:6985297G>C	ENST00000389658.3	-	39	5692	c.5599C>G	c.(5599-5601)Ctg>Gtg	p.L1867V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1867	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTGTAGACCAGGTCGACTGCG	0.502																																																	0													204.0	167.0	180.0					18																	6985297		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5599C>G	18.37:g.6985297G>C	ENSP00000374309:p.Leu1867Val			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L1867V	ENST00000389658.3	37	c.5599	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	8.576	0.881268	0.17467	.	.	ENSG00000101680	ENST00000389658	T	0.21543	2.0	5.58	5.58	0.84498	.	0.356310	0.26859	N	0.022134	T	0.24470	0.0593	M	0.66939	2.045	0.34641	D	0.720634	B	0.25850	0.136	B	0.19391	0.025	T	0.21586	-1.0241	10	0.44086	T	0.13	.	13.0585	0.58994	0.0765:0.0:0.9235:0.0	.	1867	P25391	LAMA1_HUMAN	V	1867	ENSP00000374309:L1867V	ENSP00000374309:L1867V	L	-	1	2	LAMA1	6975297	1.000000	0.71417	0.876000	0.34364	0.111000	0.19643	3.961000	0.56759	2.631000	0.89168	0.655000	0.94253	CTG	LAMA1	-	NULL	ENSG00000101680		0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	51	0	G	NM_005559		6985297	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.906	C
LAMA1	284217	genome.wustl.edu	37	18	6985297	6985297	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:6985297G>C	ENST00000389658.3	-	39	5692	c.5599C>G	c.(5599-5601)Ctg>Gtg	p.L1867V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1867	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTGTAGACCAGGTCGACTGCG	0.502																																																	0													204.0	167.0	180.0					18																	6985297		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5599C>G	18.37:g.6985297G>C	ENSP00000374309:p.Leu1867Val			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L1867V	ENST00000389658.3	37	c.5599	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	8.576	0.881268	0.17467	.	.	ENSG00000101680	ENST00000389658	T	0.21543	2.0	5.58	5.58	0.84498	.	0.356310	0.26859	N	0.022134	T	0.24470	0.0593	M	0.66939	2.045	0.34641	D	0.720634	B	0.25850	0.136	B	0.19391	0.025	T	0.21586	-1.0241	10	0.44086	T	0.13	.	13.0585	0.58994	0.0765:0.0:0.9235:0.0	.	1867	P25391	LAMA1_HUMAN	V	1867	ENSP00000374309:L1867V	ENSP00000374309:L1867V	L	-	1	2	LAMA1	6975297	1.000000	0.71417	0.876000	0.34364	0.111000	0.19643	3.961000	0.56759	2.631000	0.89168	0.655000	0.94253	CTG	LAMA1	-	NULL	ENSG00000101680		0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	67	0	G	NM_005559		6985297	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.906	C
LAMA1	284217	genome.wustl.edu	37	18	7037696	7037696	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:7037696G>T	ENST00000389658.3	-	12	1711	c.1618C>A	c.(1618-1620)Ccg>Acg	p.P540T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	540	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGCTGAGACGGGATCTTCCTG	0.507																																																	0													98.0	82.0	88.0					18																	7037696		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1618C>A	18.37:g.7037696G>T	ENSP00000374309:p.Pro540Thr			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P540T	ENST00000389658.3	37	c.1618	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	0.937	-0.710841	0.03230	.	.	ENSG00000101680	ENST00000389658	T	0.17691	2.26	5.43	3.59	0.41128	Laminin B type IV (1);	1.280750	0.05256	N	0.514994	T	0.13628	0.0330	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37267	-0.9713	10	0.22109	T	0.4	.	11.47	0.50264	0.0:0.2547:0.6133:0.132	.	540	P25391	LAMA1_HUMAN	T	540	ENSP00000374309:P540T	ENSP00000374309:P540T	P	-	1	0	LAMA1	7027696	0.165000	0.22948	0.020000	0.16555	0.002000	0.02628	0.889000	0.28282	0.620000	0.30215	-0.304000	0.09214	CCG	LAMA1	-	pfscan_Laminin_B_type_IV	ENSG00000101680		0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	34	0	G	NM_005559		7037696	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.029	T
LAMA1	284217	genome.wustl.edu	37	18	7037696	7037696	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:7037696G>T	ENST00000389658.3	-	12	1711	c.1618C>A	c.(1618-1620)Ccg>Acg	p.P540T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	540	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGCTGAGACGGGATCTTCCTG	0.507																																																	0													98.0	82.0	88.0					18																	7037696		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1618C>A	18.37:g.7037696G>T	ENSP00000374309:p.Pro540Thr			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P540T	ENST00000389658.3	37	c.1618	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	0.937	-0.710841	0.03230	.	.	ENSG00000101680	ENST00000389658	T	0.17691	2.26	5.43	3.59	0.41128	Laminin B type IV (1);	1.280750	0.05256	N	0.514994	T	0.13628	0.0330	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37267	-0.9713	10	0.22109	T	0.4	.	11.47	0.50264	0.0:0.2547:0.6133:0.132	.	540	P25391	LAMA1_HUMAN	T	540	ENSP00000374309:P540T	ENSP00000374309:P540T	P	-	1	0	LAMA1	7027696	0.165000	0.22948	0.020000	0.16555	0.002000	0.02628	0.889000	0.28282	0.620000	0.30215	-0.304000	0.09214	CCG	LAMA1	-	pfscan_Laminin_B_type_IV	ENSG00000101680		0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	59	0	G	NM_005559		7037696	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.029	T
LAMA2	3908	genome.wustl.edu	37	6	129475657	129475657	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:129475657T>G	ENST00000421865.2	+	8	1084	c.1035T>G	c.(1033-1035)aaT>aaG	p.N345K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	345	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCATGCAATTGTCATGGAA	0.294																																																	0													62.0	64.0	63.0					6																	129475657		2203	4300	6503	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1035T>G	6.37:g.129475657T>G	ENSP00000400365:p.Asn345Lys		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.N345K	ENST00000421865.2	37	c.1035	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678888	0.68042	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61274	0.12	6.06	4.91	0.64330	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.75777	2.31	0.48975	D	0.99973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70249	-0.4924	10	0.72032	D	0.01	.	8.1861	0.31339	0.0:0.214:0.0:0.786	.	345;345	A6NF00;P24043	.;LAMA2_HUMAN	K	345	ENSP00000400365:N345K	ENSP00000346769:N345K	N	+	3	2	LAMA2	129517350	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.649000	0.37281	1.119000	0.41883	0.533000	0.62120	AAT	LAMA2	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000196569		0.294	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0.00	56	0	T			129475657	+1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	9.52	57	6	SNP	1.000	G
LAMA2	3908	genome.wustl.edu	37	6	129475657	129475657	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:129475657T>G	ENST00000421865.2	+	8	1084	c.1035T>G	c.(1033-1035)aaT>aaG	p.N345K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	345	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCATGCAATTGTCATGGAA	0.294																																																	0													62.0	64.0	63.0					6																	129475657		2203	4300	6503	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1035T>G	6.37:g.129475657T>G	ENSP00000400365:p.Asn345Lys		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.N345K	ENST00000421865.2	37	c.1035	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678888	0.68042	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61274	0.12	6.06	4.91	0.64330	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.75777	2.31	0.48975	D	0.99973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70249	-0.4924	10	0.72032	D	0.01	.	8.1861	0.31339	0.0:0.214:0.0:0.786	.	345;345	A6NF00;P24043	.;LAMA2_HUMAN	K	345	ENSP00000400365:N345K	ENSP00000346769:N345K	N	+	3	2	LAMA2	129517350	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.649000	0.37281	1.119000	0.41883	0.533000	0.62120	AAT	LAMA2	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000196569		0.294	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0.00	81	0	T			129475657	+1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	9.52	57	6	SNP	1.000	G
LAMB4	22798	genome.wustl.edu	37	7	107696117	107696117	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:107696117C>G	ENST00000388781.3	-	25	3798	c.3715G>C	c.(3715-3717)Ggg>Cgg	p.G1239R	LAMB4_ENST00000388780.3_Missense_Mutation_p.G1239R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1239R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1239	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AAGAATTTCCCAGATGGGAAA	0.408																																																	0													97.0	106.0	103.0					7																	107696117		2203	4300	6503	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3715G>C	7.37:g.107696117C>G	ENSP00000373433:p.Gly1239Arg		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1239R	ENST00000388781.3	37	c.3715	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378272	0.24944	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.30448	1.53;1.53;1.94;1.56	4.91	4.91	0.64330	.	0.180534	0.26773	N	0.022563	T	0.16685	0.0401	N	0.08118	0	0.80722	D	1	B;P	0.43352	0.006;0.804	B;B	0.40506	0.009;0.331	T	0.07424	-1.0773	10	0.16896	T	0.51	.	13.9555	0.64144	0.0:0.8481:0.1519:0.0	.	1239;1239	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	R	1239;1239;265;1239	ENSP00000205386:G1239R;ENSP00000373433:G1239R;ENSP00000416562:G265R;ENSP00000373432:G1239R	ENSP00000205386:G1239R	G	-	1	0	LAMB4	107483353	0.002000	0.14202	0.965000	0.40720	0.980000	0.70556	1.323000	0.33701	2.549000	0.85964	0.555000	0.69702	GGG	LAMB4	-	NULL	ENSG00000091128		0.408	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0.00	108	0	C	XM_209857		107696117	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	23.08	60	18	SNP	0.970	G
LAMB4	22798	genome.wustl.edu	37	7	107696117	107696117	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:107696117C>G	ENST00000388781.3	-	25	3798	c.3715G>C	c.(3715-3717)Ggg>Cgg	p.G1239R	LAMB4_ENST00000388780.3_Missense_Mutation_p.G1239R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1239R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1239	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AAGAATTTCCCAGATGGGAAA	0.408																																																	0													97.0	106.0	103.0					7																	107696117		2203	4300	6503	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3715G>C	7.37:g.107696117C>G	ENSP00000373433:p.Gly1239Arg		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1239R	ENST00000388781.3	37	c.3715	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378272	0.24944	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.30448	1.53;1.53;1.94;1.56	4.91	4.91	0.64330	.	0.180534	0.26773	N	0.022563	T	0.16685	0.0401	N	0.08118	0	0.80722	D	1	B;P	0.43352	0.006;0.804	B;B	0.40506	0.009;0.331	T	0.07424	-1.0773	10	0.16896	T	0.51	.	13.9555	0.64144	0.0:0.8481:0.1519:0.0	.	1239;1239	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	R	1239;1239;265;1239	ENSP00000205386:G1239R;ENSP00000373433:G1239R;ENSP00000416562:G265R;ENSP00000373432:G1239R	ENSP00000205386:G1239R	G	-	1	0	LAMB4	107483353	0.002000	0.14202	0.965000	0.40720	0.980000	0.70556	1.323000	0.33701	2.549000	0.85964	0.555000	0.69702	GGG	LAMB4	-	NULL	ENSG00000091128		0.408	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0.00	92	0	C	XM_209857		107696117	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	23.08	60	18	SNP	0.970	G
LCE1E	353135	genome.wustl.edu	37	1	152760062	152760062	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152760062G>T	ENST00000368770.3	+	2	340	c.287G>T	c.(286-288)tGc>tTc	p.C96F	LCE1E_ENST00000368771.1_Missense_Mutation_p.C96F	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	96	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGACTGCTGCAGCCAGCCC	0.657																																																	0													33.0	47.0	43.0					1																	152760062		2184	4286	6470	SO:0001583	missense	0			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.287G>T	1.37:g.152760062G>T	ENSP00000357759:p.Cys96Phe		D3DV30	Missense_Mutation	SNP	NULL	p.C96F	ENST00000368770.3	37	c.287	CCDS1024.1	1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633943	0.03584	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.05649	3.41;3.41	4.06	3.15	0.36227	.	0.000000	0.38548	N	0.001641	T	0.07279	0.0184	M	0.89287	3.02	0.26950	N	0.966044	P	0.40794	0.729	P	0.45232	0.474	T	0.06127	-1.0844	10	0.87932	D	0	.	7.8025	0.29183	0.1173:0.0:0.8827:0.0	.	96	Q5T753	LCE1E_HUMAN	F	96	ENSP00000357760:C96F;ENSP00000357759:C96F	ENSP00000357759:C96F	C	+	2	0	LCE1E	151026686	0.997000	0.39634	0.976000	0.42696	0.019000	0.09904	2.875000	0.48491	1.036000	0.39998	0.514000	0.50259	TGC	LCE1E	-	NULL	ENSG00000186226		0.657	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1E	HGNC	protein_coding	OTTHUMT00000034525.1	-	0.00	75	0	G	NM_178353		152760062	+1	tier1	-	no_errors	ENST00000368770	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.997	T
LCE1E	353135	genome.wustl.edu	37	1	152760062	152760062	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152760062G>T	ENST00000368770.3	+	2	340	c.287G>T	c.(286-288)tGc>tTc	p.C96F	LCE1E_ENST00000368771.1_Missense_Mutation_p.C96F	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	96	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGACTGCTGCAGCCAGCCC	0.657																																																	0													33.0	47.0	43.0					1																	152760062		2184	4286	6470	SO:0001583	missense	0			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.287G>T	1.37:g.152760062G>T	ENSP00000357759:p.Cys96Phe		D3DV30	Missense_Mutation	SNP	NULL	p.C96F	ENST00000368770.3	37	c.287	CCDS1024.1	1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633943	0.03584	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.05649	3.41;3.41	4.06	3.15	0.36227	.	0.000000	0.38548	N	0.001641	T	0.07279	0.0184	M	0.89287	3.02	0.26950	N	0.966044	P	0.40794	0.729	P	0.45232	0.474	T	0.06127	-1.0844	10	0.87932	D	0	.	7.8025	0.29183	0.1173:0.0:0.8827:0.0	.	96	Q5T753	LCE1E_HUMAN	F	96	ENSP00000357760:C96F;ENSP00000357759:C96F	ENSP00000357759:C96F	C	+	2	0	LCE1E	151026686	0.997000	0.39634	0.976000	0.42696	0.019000	0.09904	2.875000	0.48491	1.036000	0.39998	0.514000	0.50259	TGC	LCE1E	-	NULL	ENSG00000186226		0.657	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1E	HGNC	protein_coding	OTTHUMT00000034525.1	-	0.00	76	0	G	NM_178353		152760062	+1	tier1	-	no_errors	ENST00000368770	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.997	T
LCT	3938	genome.wustl.edu	37	2	136581559	136581559	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:136581559T>G	ENST00000264162.2	-	4	829	c.819A>C	c.(817-819)aaA>aaC	p.K273N	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	273	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AAACTTTCACTTTTGGCTCAA	0.473																																																	0													106.0	102.0	104.0					2																	136581559		2203	4300	6503	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.819A>C	2.37:g.136581559T>G	ENSP00000264162:p.Lys273Asn		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.K273N	ENST00000264162.2	37	c.819	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	T	12.43	1.936539	0.34189	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.35	5.35	0.76521	.	0.307287	0.31566	N	0.007421	T	0.20740	0.0499	L	0.43152	1.355	0.35641	D	0.810966	P	0.35656	0.514	B	0.24269	0.052	T	0.22521	-1.0214	10	0.14252	T	0.57	-21.5526	11.6631	0.51358	0.0:0.0:0.0:1.0	.	273	P09848	LPH_HUMAN	N	273	ENSP00000264162:K273N	ENSP00000264162:K273N	K	-	3	2	LCT	136298029	0.914000	0.31030	0.998000	0.56505	0.910000	0.53928	0.543000	0.23237	2.250000	0.74265	0.454000	0.30748	AAA	LCT	-	NULL	ENSG00000115850		0.473	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0.00	46	0	T	NM_002299		136581559	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	G
LCT	3938	genome.wustl.edu	37	2	136581559	136581559	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:136581559T>G	ENST00000264162.2	-	4	829	c.819A>C	c.(817-819)aaA>aaC	p.K273N	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	273	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AAACTTTCACTTTTGGCTCAA	0.473																																																	0													106.0	102.0	104.0					2																	136581559		2203	4300	6503	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.819A>C	2.37:g.136581559T>G	ENSP00000264162:p.Lys273Asn		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.K273N	ENST00000264162.2	37	c.819	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	T	12.43	1.936539	0.34189	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.35	5.35	0.76521	.	0.307287	0.31566	N	0.007421	T	0.20740	0.0499	L	0.43152	1.355	0.35641	D	0.810966	P	0.35656	0.514	B	0.24269	0.052	T	0.22521	-1.0214	10	0.14252	T	0.57	-21.5526	11.6631	0.51358	0.0:0.0:0.0:1.0	.	273	P09848	LPH_HUMAN	N	273	ENSP00000264162:K273N	ENSP00000264162:K273N	K	-	3	2	LCT	136298029	0.914000	0.31030	0.998000	0.56505	0.910000	0.53928	0.543000	0.23237	2.250000	0.74265	0.454000	0.30748	AAA	LCT	-	NULL	ENSG00000115850		0.473	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0.00	73	0	T	NM_002299		136581559	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	G
LEF1	51176	genome.wustl.edu	37	4	109004508	109004508	+	Intron	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:109004508T>C	ENST00000265165.1	-	5	1293				LEF1_ENST00000512172.1_Silent_p.*146*|LEF1_ENST00000379951.2_Intron|LEF1_ENST00000510624.1_Intron|LEF1_ENST00000438313.2_Intron	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGCAAGGTTCTTACCAGCCAA	0.468																																																	0													123.0	106.0	112.0					4																	109004508		2203	4300	6503	SO:0001627	intron_variant	0				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.638+3A>G	4.37:g.109004508T>C			B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Silent	SNP	pfam_CTNNB1-bd_N	p.*146	ENST00000265165.1	37	c.438	CCDS3679.1	4																																																																																			LEF1	-	NULL	ENSG00000138795		0.468	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEF1	HGNC	protein_coding	OTTHUMT00000254749.2	-	0.00	86	0	T			109004508	-1	tier1	-	no_errors	ENST00000512172	ensembl	human	putative	74_37	silent	25.00	63	21	SNP	1.000	C
LEF1	51176	genome.wustl.edu	37	4	109004508	109004508	+	Intron	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:109004508T>C	ENST00000265165.1	-	5	1293				LEF1_ENST00000512172.1_Silent_p.*146*|LEF1_ENST00000379951.2_Intron|LEF1_ENST00000510624.1_Intron|LEF1_ENST00000438313.2_Intron	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGCAAGGTTCTTACCAGCCAA	0.468																																																	0													123.0	106.0	112.0					4																	109004508		2203	4300	6503	SO:0001627	intron_variant	0				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.638+3A>G	4.37:g.109004508T>C			B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Silent	SNP	pfam_CTNNB1-bd_N	p.*146	ENST00000265165.1	37	c.438	CCDS3679.1	4																																																																																			LEF1	-	NULL	ENSG00000138795		0.468	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEF1	HGNC	protein_coding	OTTHUMT00000254749.2	-	0.00	92	0	T			109004508	-1	tier1	-	no_errors	ENST00000512172	ensembl	human	putative	74_37	silent	25.00	63	21	SNP	1.000	C
LIFR	3977	genome.wustl.edu	37	5	38510727	38510727	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:38510727delA	ENST00000263409.4	-	7	992	c.830delT	c.(829-831)gtgfs	p.V277fs	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Frame_Shift_Del_p.V277fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	277					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGCTGATAACACTTTTTCTTG	0.378			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													106.0	93.0	97.0					5																	38510727		2203	4300	6503	SO:0001589	frameshift_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.830delT	5.37:g.38510727delA	ENSP00000263409:p.Val277fs		Q6LCD9	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V277fs	ENST00000263409.4	37	c.830	CCDS3927.1	5																																																																																			LIFR	-	NULL	ENSG00000113594		0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1		0.00	128	0	A	NM_002310		38510727	-1	tier1		no_errors	ENST00000263409	ensembl	human	known	74_37	frame_shift_del	9.86	64	7	DEL	0.351	-
LIFR	3977	genome.wustl.edu	37	5	38510727	38510727	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:38510727delA	ENST00000263409.4	-	7	992	c.830delT	c.(829-831)gtgfs	p.V277fs	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Frame_Shift_Del_p.V277fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	277					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGCTGATAACACTTTTTCTTG	0.378			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													106.0	93.0	97.0					5																	38510727		2203	4300	6503	SO:0001589	frameshift_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.830delT	5.37:g.38510727delA	ENSP00000263409:p.Val277fs		Q6LCD9	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V277fs	ENST00000263409.4	37	c.830	CCDS3927.1	5																																																																																			LIFR	-	NULL	ENSG00000113594		0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1		0.00	73	0	A	NM_002310		38510727	-1	tier1		no_errors	ENST00000263409	ensembl	human	known	74_37	frame_shift_del	9.86	64	7	DEL	0.351	-
LIFR	3977	genome.wustl.edu	37	5	38510729	38510729	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:38510729T>C	ENST00000263409.4	-	7	990	c.828A>G	c.(826-828)aaA>aaG	p.K276K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.K276K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	276					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGATAACACTTTTTCTTGAC	0.378			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													106.0	93.0	97.0					5																	38510729		2203	4300	6503	SO:0001819	synonymous_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.828A>G	5.37:g.38510729T>C			Q6LCD9	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K276	ENST00000263409.4	37	c.828	CCDS3927.1	5																																																																																			LIFR	-	NULL	ENSG00000113594		0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	-	0.00	122	0	T	NM_002310		38510729	-1	tier1	-	no_errors	ENST00000263409	ensembl	human	known	74_37	silent	9.72	65	7	SNP	0.108	C
LIFR	3977	genome.wustl.edu	37	5	38510729	38510729	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:38510729T>C	ENST00000263409.4	-	7	990	c.828A>G	c.(826-828)aaA>aaG	p.K276K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.K276K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	276					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGATAACACTTTTTCTTGAC	0.378			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													106.0	93.0	97.0					5																	38510729		2203	4300	6503	SO:0001819	synonymous_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.828A>G	5.37:g.38510729T>C			Q6LCD9	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K276	ENST00000263409.4	37	c.828	CCDS3927.1	5																																																																																			LIFR	-	NULL	ENSG00000113594		0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	-	0.00	72	0	T	NM_002310		38510729	-1	tier1	-	no_errors	ENST00000263409	ensembl	human	known	74_37	silent	9.72	65	7	SNP	0.108	C
LIFR	3977	genome.wustl.edu	37	5	38510735	38510735	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:38510735T>C	ENST00000263409.4	-	7	984	c.822A>G	c.(820-822)caA>caG	p.Q274Q	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.Q274Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	274					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACACTTTTTCTTGACTCACAC	0.373			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													102.0	90.0	94.0					5																	38510735		2203	4300	6503	SO:0001819	synonymous_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.822A>G	5.37:g.38510735T>C			Q6LCD9	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q274	ENST00000263409.4	37	c.822	CCDS3927.1	5																																																																																			LIFR	-	NULL	ENSG00000113594		0.373	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	-	0.00	126	0	T	NM_002310		38510735	-1	tier1	-	no_errors	ENST00000263409	ensembl	human	known	74_37	silent	10.61	59	7	SNP	0.255	C
LIFR	3977	genome.wustl.edu	37	5	38510735	38510735	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:38510735T>C	ENST00000263409.4	-	7	984	c.822A>G	c.(820-822)caA>caG	p.Q274Q	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.Q274Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	274					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACACTTTTTCTTGACTCACAC	0.373			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													102.0	90.0	94.0					5																	38510735		2203	4300	6503	SO:0001819	synonymous_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.822A>G	5.37:g.38510735T>C			Q6LCD9	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q274	ENST00000263409.4	37	c.822	CCDS3927.1	5																																																																																			LIFR	-	NULL	ENSG00000113594		0.373	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	-	0.00	71	0	T	NM_002310		38510735	-1	tier1	-	no_errors	ENST00000263409	ensembl	human	known	74_37	silent	10.61	59	7	SNP	0.255	C
LIMCH1	22998	genome.wustl.edu	37	4	41652620	41652620	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:41652620C>T	ENST00000313860.7	+	13	1930	c.1876C>T	c.(1876-1878)Ctc>Ttc	p.L626F	LIMCH1_ENST00000512820.1_Missense_Mutation_p.L614F|LIMCH1_ENST00000381753.4_Missense_Mutation_p.L460F|LIMCH1_ENST00000512946.1_Missense_Mutation_p.L626F|LIMCH1_ENST00000509277.1_Missense_Mutation_p.L460F|LIMCH1_ENST00000511496.1_Missense_Mutation_p.L467F|LIMCH1_ENST00000508501.1_Missense_Mutation_p.L626F|LIMCH1_ENST00000503057.1_Missense_Mutation_p.L1011F|LIMCH1_ENST00000514096.1_Missense_Mutation_p.L467F|LIMCH1_ENST00000513024.1_Missense_Mutation_p.L455F|LIMCH1_ENST00000512632.1_Missense_Mutation_p.L626F|LIMCH1_ENST00000396595.3_Missense_Mutation_p.L472F	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	626					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCCCCAAGAGCTCGCAGTAAG	0.448																																																	0													70.0	59.0	63.0					4																	41652620		2203	4300	6503	SO:0001583	missense	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1876C>T	4.37:g.41652620C>T	ENSP00000316891:p.Leu626Phe		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L1011F	ENST00000313860.7	37	c.3031	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	C	9.749	1.166931	0.21621	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.49139	0.83;1.39;1.39;1.39;0.82;1.42;0.79;0.8;0.8;0.8;0.81;0.8	4.98	-1.04	0.10068	.	1.507890	0.03794	N	0.263365	T	0.63954	0.2555	M	0.68593	2.085	0.09310	N	1	P;P;D;P;P;D;P;D;P;P;D	0.76494	0.604;0.604;0.978;0.508;0.508;0.999;0.725;0.973;0.833;0.896;0.96	B;B;P;P;B;D;P;P;P;P;P	0.69824	0.418;0.352;0.806;0.5;0.382;0.966;0.622;0.742;0.451;0.653;0.634	T	0.51252	-0.8729	10	0.62326	D	0.03	0.0218	6.8706	0.24119	0.0:0.5085:0.2292:0.2624	.	377;460;626;460;472;1011;455;614;626;626;626	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	F	455;626;626;626;626;614;1011;467;1010;467;460;472;460	ENSP00000425222:L455F;ENSP00000424825:L626F;ENSP00000424645:L626F;ENSP00000316891:L626F;ENSP00000427045:L626F;ENSP00000424437:L614F;ENSP00000425631:L1011F;ENSP00000421242:L467F;ENSP00000426334:L467F;ENSP00000422864:L460F;ENSP00000379840:L472F;ENSP00000371172:L460F	ENSP00000316891:L626F	L	+	1	0	LIMCH1	41347377	0.000000	0.05858	0.002000	0.10522	0.630000	0.37929	0.264000	0.18497	-0.125000	0.11703	0.650000	0.86243	CTC	LIMCH1	-	NULL	ENSG00000064042		0.448	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	-	0.00	41	0	C	NM_014988		41652620	+1	tier1	-	no_errors	ENST00000503057	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.002	T
LIMCH1	22998	genome.wustl.edu	37	4	41652620	41652620	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:41652620C>T	ENST00000313860.7	+	13	1930	c.1876C>T	c.(1876-1878)Ctc>Ttc	p.L626F	LIMCH1_ENST00000512820.1_Missense_Mutation_p.L614F|LIMCH1_ENST00000381753.4_Missense_Mutation_p.L460F|LIMCH1_ENST00000512946.1_Missense_Mutation_p.L626F|LIMCH1_ENST00000509277.1_Missense_Mutation_p.L460F|LIMCH1_ENST00000511496.1_Missense_Mutation_p.L467F|LIMCH1_ENST00000508501.1_Missense_Mutation_p.L626F|LIMCH1_ENST00000503057.1_Missense_Mutation_p.L1011F|LIMCH1_ENST00000514096.1_Missense_Mutation_p.L467F|LIMCH1_ENST00000513024.1_Missense_Mutation_p.L455F|LIMCH1_ENST00000512632.1_Missense_Mutation_p.L626F|LIMCH1_ENST00000396595.3_Missense_Mutation_p.L472F	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	626					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCCCCAAGAGCTCGCAGTAAG	0.448																																																	0													70.0	59.0	63.0					4																	41652620		2203	4300	6503	SO:0001583	missense	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1876C>T	4.37:g.41652620C>T	ENSP00000316891:p.Leu626Phe		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L1011F	ENST00000313860.7	37	c.3031	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	C	9.749	1.166931	0.21621	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.49139	0.83;1.39;1.39;1.39;0.82;1.42;0.79;0.8;0.8;0.8;0.81;0.8	4.98	-1.04	0.10068	.	1.507890	0.03794	N	0.263365	T	0.63954	0.2555	M	0.68593	2.085	0.09310	N	1	P;P;D;P;P;D;P;D;P;P;D	0.76494	0.604;0.604;0.978;0.508;0.508;0.999;0.725;0.973;0.833;0.896;0.96	B;B;P;P;B;D;P;P;P;P;P	0.69824	0.418;0.352;0.806;0.5;0.382;0.966;0.622;0.742;0.451;0.653;0.634	T	0.51252	-0.8729	10	0.62326	D	0.03	0.0218	6.8706	0.24119	0.0:0.5085:0.2292:0.2624	.	377;460;626;460;472;1011;455;614;626;626;626	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	F	455;626;626;626;626;614;1011;467;1010;467;460;472;460	ENSP00000425222:L455F;ENSP00000424825:L626F;ENSP00000424645:L626F;ENSP00000316891:L626F;ENSP00000427045:L626F;ENSP00000424437:L614F;ENSP00000425631:L1011F;ENSP00000421242:L467F;ENSP00000426334:L467F;ENSP00000422864:L460F;ENSP00000379840:L472F;ENSP00000371172:L460F	ENSP00000316891:L626F	L	+	1	0	LIMCH1	41347377	0.000000	0.05858	0.002000	0.10522	0.630000	0.37929	0.264000	0.18497	-0.125000	0.11703	0.650000	0.86243	CTC	LIMCH1	-	NULL	ENSG00000064042		0.448	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	-	0.00	47	0	C	NM_014988		41652620	+1	tier1	-	no_errors	ENST00000503057	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.002	T
LINC00200	399706	genome.wustl.edu	37	10	1208488	1208488	+	lincRNA	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:1208488G>T	ENST00000425630.1	+	0	310					NR_015376.2				long intergenic non-protein coding RNA 200																		CTGTTACAGGGAGAAGACTGC	0.507																																																	0													104.0	94.0	97.0					10																	1208488		692	1591	2283			0			AK097673		10p15.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000229205	ENSG00000229205		"""Long non-coding RNAs"""	30974	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 139"", ""non-protein coding RNA 200"""	C10orf139, NCRNA00200			Standard	NR_015376		Approved	FLJ40354	uc010qag.1		OTTHUMG00000017539		10.37:g.1208488G>T				RNA	SNP	-	NULL	ENST00000425630.1	37	NULL		10																																																																																			LINC00200	-	-	ENSG00000229205		0.507	LINC00200-001	KNOWN	basic	lincRNA	LINC00200	HGNC	lincRNA	OTTHUMT00000046417.2	-	0.00	41	0	G	NR_015376		1208488	+1	tier1	-	no_errors	ENST00000425630	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.000	T
LINC00200	399706	genome.wustl.edu	37	10	1208488	1208488	+	lincRNA	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:1208488G>T	ENST00000425630.1	+	0	310					NR_015376.2				long intergenic non-protein coding RNA 200																		CTGTTACAGGGAGAAGACTGC	0.507																																																	0													104.0	94.0	97.0					10																	1208488		692	1591	2283			0			AK097673		10p15.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000229205	ENSG00000229205		"""Long non-coding RNAs"""	30974	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 139"", ""non-protein coding RNA 200"""	C10orf139, NCRNA00200			Standard	NR_015376		Approved	FLJ40354	uc010qag.1		OTTHUMG00000017539		10.37:g.1208488G>T				RNA	SNP	-	NULL	ENST00000425630.1	37	NULL		10																																																																																			LINC00200	-	-	ENSG00000229205		0.507	LINC00200-001	KNOWN	basic	lincRNA	LINC00200	HGNC	lincRNA	OTTHUMT00000046417.2	-	0.00	58	0	G	NR_015376		1208488	+1	tier1	-	no_errors	ENST00000425630	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.000	T
LINC00301	283197	genome.wustl.edu	37	11	60388573	60388573	+	lincRNA	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:60388573A>C	ENST00000320202.4	+	0	182					NR_026946.1		Q8NCQ3	NC301_HUMAN	long intergenic non-protein coding RNA 301							integral component of membrane (GO:0016021)											TGTTGAAAGAAGAAACCAGAA	0.343																																																	0													232.0	240.0	238.0					11																	60388573		692	1591	2283			0			AK058123		11q12.2	2012-10-12	2011-08-10	2011-08-10	ENSG00000181995	ENSG00000181995		"""Long non-coding RNAs"""	28603	non-coding RNA	RNA, long non-coding			"""chromosome 11 open reading frame 64"", ""non-protein coding RNA 301"""	C11orf64, NCRNA00301		12477932	Standard	NR_026946		Approved	MGC39681	uc001npt.3	Q8NCQ3	OTTHUMG00000141269		11.37:g.60388573A>C				RNA	SNP	-	NULL	ENST00000320202.4	37	NULL		11																																																																																			LINC00301	-	-	ENSG00000181995		0.343	LINC00301-001	KNOWN	basic	lincRNA	LINC00301	HGNC	lincRNA	OTTHUMT00000280451.1	-	0.00	106	0	A	NR_026946		60388573	+1	tier1	-	no_errors	ENST00000320202	ensembl	human	known	74_37	rna	7.46	61	5	SNP	0.035	C
LINC00301	283197	genome.wustl.edu	37	11	60388573	60388573	+	lincRNA	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:60388573A>C	ENST00000320202.4	+	0	182					NR_026946.1		Q8NCQ3	NC301_HUMAN	long intergenic non-protein coding RNA 301							integral component of membrane (GO:0016021)											TGTTGAAAGAAGAAACCAGAA	0.343																																																	0													232.0	240.0	238.0					11																	60388573		692	1591	2283			0			AK058123		11q12.2	2012-10-12	2011-08-10	2011-08-10	ENSG00000181995	ENSG00000181995		"""Long non-coding RNAs"""	28603	non-coding RNA	RNA, long non-coding			"""chromosome 11 open reading frame 64"", ""non-protein coding RNA 301"""	C11orf64, NCRNA00301		12477932	Standard	NR_026946		Approved	MGC39681	uc001npt.3	Q8NCQ3	OTTHUMG00000141269		11.37:g.60388573A>C				RNA	SNP	-	NULL	ENST00000320202.4	37	NULL		11																																																																																			LINC00301	-	-	ENSG00000181995		0.343	LINC00301-001	KNOWN	basic	lincRNA	LINC00301	HGNC	lincRNA	OTTHUMT00000280451.1	-	0.00	60	0	A	NR_026946		60388573	+1	tier1	-	no_errors	ENST00000320202	ensembl	human	known	74_37	rna	7.46	61	5	SNP	0.035	C
LINC00599	157627	genome.wustl.edu	37	8	9760910	9760910	+	lincRNA	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:9760910T>G	ENST00000385275.1	-	0	72					NR_029668.1				long intergenic non-protein coding RNA 599																		GCCCCATTCTTGGCATTCACC	0.622																																																	0													32.0	32.0	32.0					8																	9760910		1568	3582	5150			0			AF052108		8p23.1	2012-10-19			ENSG00000253230	ENSG00000253230		"""Long non-coding RNAs"", ""-"""	27231	non-coding RNA	RNA, long non-coding	"""retinal non-coding RNA 3"""					8619474, 9110174	Standard	NR_024281		Approved	Rncr3			OTTHUMG00000163734		8.37:g.9760910T>G				RNA	SNP	-	NULL	ENST00000385275.1	37	NULL		8																																																																																			LINC00599	-	-	ENSG00000253230		0.622	LINC00599-201	KNOWN	basic	miRNA	LINC00599	HGNC	lincRNA		-	0.00	102	0	T	NR_024281		9760910	-1	tier1	-	no_errors	ENST00000385275	ensembl	human	known	74_37	rna	19.05	51	12	SNP	1.000	G
LINC00599	157627	genome.wustl.edu	37	8	9760910	9760910	+	lincRNA	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:9760910T>G	ENST00000385275.1	-	0	72					NR_029668.1				long intergenic non-protein coding RNA 599																		GCCCCATTCTTGGCATTCACC	0.622																																																	0													32.0	32.0	32.0					8																	9760910		1568	3582	5150			0			AF052108		8p23.1	2012-10-19			ENSG00000253230	ENSG00000253230		"""Long non-coding RNAs"", ""-"""	27231	non-coding RNA	RNA, long non-coding	"""retinal non-coding RNA 3"""					8619474, 9110174	Standard	NR_024281		Approved	Rncr3			OTTHUMG00000163734		8.37:g.9760910T>G				RNA	SNP	-	NULL	ENST00000385275.1	37	NULL		8																																																																																			LINC00599	-	-	ENSG00000253230		0.622	LINC00599-201	KNOWN	basic	miRNA	LINC00599	HGNC	lincRNA		-	0.00	96	0	T	NR_024281		9760910	-1	tier1	-	no_errors	ENST00000385275	ensembl	human	known	74_37	rna	19.05	51	12	SNP	1.000	G
LIPI	149998	genome.wustl.edu	37	21	15517060	15517060	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:15517060G>C	ENST00000536861.1	-	9	1178	c.1179C>G	c.(1177-1179)gaC>gaG	p.D393E	AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000428809.1_RNA|LIPI_ENST00000344577.2_Missense_Mutation_p.D414E			Q6XZB0	LIPI_HUMAN	lipase, member I	393					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TATTTACAAAGTCATTATAAA	0.313																																																	0													59.0	63.0	61.0					21																	15517060		2202	4297	6499	SO:0001583	missense	0			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1179C>G	21.37:g.15517060G>C	ENSP00000440381:p.Asp393Glu		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.D414E	ENST00000536861.1	37	c.1242		21	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458790	0.26248	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.91996	-2.95;-2.88	5.34	-2.26	0.06867	.	0.048391	0.85682	D	0.000000	D	0.93324	0.7872	M	0.68593	2.085	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	D	0.87420	0.2381	10	0.42905	T	0.14	.	10.3667	0.44028	0.5384:0.0:0.4616:0.0	.	414	Q6XZB0-2	.	E	414;393	ENSP00000343331:D414E;ENSP00000440381:D393E	ENSP00000343331:D414E	D	-	3	2	LIPI	14438931	0.703000	0.27826	0.326000	0.25389	0.282000	0.26991	0.368000	0.20399	-0.250000	0.09555	-0.312000	0.09012	GAC	LIPI	-	pirsf_Lipoprotein_lipase_LIPH	ENSG00000188992		0.313	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	LIPI	HGNC	protein_coding		-	0.00	100	0	G	NM_198996		15517060	-1	tier1	-	no_errors	ENST00000344577	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.178	C
LIPI	149998	genome.wustl.edu	37	21	15517060	15517060	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:15517060G>C	ENST00000536861.1	-	9	1178	c.1179C>G	c.(1177-1179)gaC>gaG	p.D393E	AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000428809.1_RNA|LIPI_ENST00000344577.2_Missense_Mutation_p.D414E			Q6XZB0	LIPI_HUMAN	lipase, member I	393					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TATTTACAAAGTCATTATAAA	0.313																																																	0													59.0	63.0	61.0					21																	15517060		2202	4297	6499	SO:0001583	missense	0			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1179C>G	21.37:g.15517060G>C	ENSP00000440381:p.Asp393Glu		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.D414E	ENST00000536861.1	37	c.1242		21	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458790	0.26248	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.91996	-2.95;-2.88	5.34	-2.26	0.06867	.	0.048391	0.85682	D	0.000000	D	0.93324	0.7872	M	0.68593	2.085	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	D	0.87420	0.2381	10	0.42905	T	0.14	.	10.3667	0.44028	0.5384:0.0:0.4616:0.0	.	414	Q6XZB0-2	.	E	414;393	ENSP00000343331:D414E;ENSP00000440381:D393E	ENSP00000343331:D414E	D	-	3	2	LIPI	14438931	0.703000	0.27826	0.326000	0.25389	0.282000	0.26991	0.368000	0.20399	-0.250000	0.09555	-0.312000	0.09012	GAC	LIPI	-	pirsf_Lipoprotein_lipase_LIPH	ENSG00000188992		0.313	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	LIPI	HGNC	protein_coding		-	0.00	73	0	G	NM_198996		15517060	-1	tier1	-	no_errors	ENST00000344577	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.178	C
LIX1	167410	genome.wustl.edu	37	5	96430719	96430719	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:96430719A>G	ENST00000274382.4	-	6	877	c.582T>C	c.(580-582)tcT>tcC	p.S194S	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	194										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GAGAATACTGAGAATAGTAGG	0.512																																																	0													46.0	50.0	49.0					5																	96430719		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.582T>C	5.37:g.96430719A>G			A8K4R9|Q8N7I2	Silent	SNP	NULL	p.S194	ENST00000274382.4	37	c.582	CCDS4088.1	5																																																																																			LIX1	-	NULL	ENSG00000145721		0.512	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1	HGNC	protein_coding	OTTHUMT00000250625.1	-	0.00	43	0	A	NM_153234		96430719	-1	tier1	-	no_errors	ENST00000274382	ensembl	human	known	74_37	silent	17.86	23	5	SNP	1.000	G
LMOD1	25802	genome.wustl.edu	37	1	201869082	201869082	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:201869082C>T	ENST00000367288.4	-	2	1305	c.1059G>A	c.(1057-1059)gaG>gaA	p.E353E	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	353					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTCCAGAGCCTCAGTAAACC	0.522																																																	0													110.0	110.0	110.0					1																	201869082		2093	4225	6318	SO:0001819	synonymous_variant	0			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1059G>A	1.37:g.201869082C>T			B1APV6|C4AMB1|Q68EN2	Silent	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.E353	ENST00000367288.4	37	c.1059	CCDS53457.1	1																																																																																			LMOD1	-	NULL	ENSG00000163431		0.522	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	-	0.00	40	0	C			201869082	-1	tier1	-	no_errors	ENST00000367288	ensembl	human	known	74_37	silent	43.48	26	20	SNP	1.000	T
LMOD1	25802	genome.wustl.edu	37	1	201869082	201869082	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:201869082C>T	ENST00000367288.4	-	2	1305	c.1059G>A	c.(1057-1059)gaG>gaA	p.E353E	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	353					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTCCAGAGCCTCAGTAAACC	0.522																																																	0													110.0	110.0	110.0					1																	201869082		2093	4225	6318	SO:0001819	synonymous_variant	0			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1059G>A	1.37:g.201869082C>T			B1APV6|C4AMB1|Q68EN2	Silent	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.E353	ENST00000367288.4	37	c.1059	CCDS53457.1	1																																																																																			LMOD1	-	NULL	ENSG00000163431		0.522	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	-	0.00	51	0	C			201869082	-1	tier1	-	no_errors	ENST00000367288	ensembl	human	known	74_37	silent	43.48	26	20	SNP	1.000	T
LOC100128317	100128317	genome.wustl.edu	37	7	81207855	81207855	+	lincRNA	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:81207855T>C	ENST00000413944.2	-	0	2418																											GAACAATAATTTAAATTCAAA	0.308																																																	0																																												0																															7.37:g.81207855T>C				RNA	SNP	-	NULL	ENST00000413944.2	37	NULL		7																																																																																			AC010091.1	-	-	ENSG00000233491		0.308	AC010091.1-002	KNOWN	basic	lincRNA	LOC100128317	Clone_based_vega_gene	lincRNA	OTTHUMT00000339912.2	-	0.00	58	0	T			81207855	-1	tier1	-	no_errors	ENST00000413944	ensembl	human	known	74_37	rna	32.14	57	27	SNP	0.000	C
LOC100128317	100128317	genome.wustl.edu	37	7	81207855	81207855	+	lincRNA	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:81207855T>C	ENST00000413944.2	-	0	2418																											GAACAATAATTTAAATTCAAA	0.308																																																	0																																												0																															7.37:g.81207855T>C				RNA	SNP	-	NULL	ENST00000413944.2	37	NULL		7																																																																																			AC010091.1	-	-	ENSG00000233491		0.308	AC010091.1-002	KNOWN	basic	lincRNA	LOC100128317	Clone_based_vega_gene	lincRNA	OTTHUMT00000339912.2	-	0.00	71	0	T			81207855	-1	tier1	-	no_errors	ENST00000413944	ensembl	human	known	74_37	rna	32.14	57	27	SNP	0.000	C
LOC100631378	100631378	genome.wustl.edu	37	19	38315139	38315139	+	lincRNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:38315139A>G	ENST00000592640.1	-	0	938				CTD-2554C21.2_ENST00000590433.1_lincRNA	NR_040015.1																						ATAGCTTGTAAAATGACCTCC	0.473																																																	0																																												0																															19.37:g.38315139A>G				RNA	SNP	-	NULL	ENST00000592640.1	37	NULL		19																																																																																			AC016582.2	-	-	ENSG00000225868		0.473	AC016582.2-001	KNOWN	basic	lincRNA	LOC100631378	Clone_based_vega_gene	lincRNA	OTTHUMT00000109619.2	-	0.00	71	0	A			38315139	-1	tier1	-	no_errors	ENST00000592640	ensembl	human	known	74_37	rna	5.13	74	4	SNP	0.000	G
LINC01579	283682	genome.wustl.edu	37	15	94304129	94304129	+	lincRNA	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:94304129A>C	ENST00000557481.2	-	0	767				RP11-739G5.1_ENST00000554318.2_lincRNA																							TTTTAAAATAAAACAGCTGAG	0.418																																																	0																																												0																															15.37:g.94304129A>C				RNA	SNP	-	NULL	ENST00000557481.2	37	NULL		15																																																																																			CTD-3049M7.1	-	-	ENSG00000258754		0.418	CTD-3049M7.1-001	KNOWN	basic	lincRNA	LOC101927091	Clone_based_vega_gene	lincRNA	OTTHUMT00000415163.2	-	0.00	45	0	A			94304129	-1	tier1	-	no_errors	ENST00000557481	ensembl	human	known	74_37	rna	15.15	28	5	SNP	0.013	C
RP11-435B5.5	0	genome.wustl.edu	37	1	143400965	143400966	+	lincRNA	DNP	GG	GG	TT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:143400965_143400966GG>TT	ENST00000428624.1	+	0	4990				RP11-435B5.4_ENST00000423249.1_lincRNA																							GGGGCACCCTGGAGGGTCGCTG	0.54																																																	0																																												0																														Exception_encountered	1.37:g.143400965_143400966delinsTT				RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			RP11-435B5.4	-	-	ENSG00000185044		0.540	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927648	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	-	0.00	346	0	G			143400965|143400966	-1	tier1	-	no_errors	ENST00000443766	ensembl	human	known	74_37	rna	6.10|6.07	231|232	15	SNP	0.023|0.026	T
RP11-435B5.5	0	genome.wustl.edu	37	1	143400965	143400966	+	lincRNA	DNP	GG	GG	TT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:143400965_143400966GG>TT	ENST00000428624.1	+	0	4990				RP11-435B5.4_ENST00000423249.1_lincRNA																							GGGGCACCCTGGAGGGTCGCTG	0.54																																																	0																																												0																														Exception_encountered	1.37:g.143400965_143400966delinsTT				RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			RP11-435B5.4	-	-	ENSG00000185044		0.540	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927648	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	-	0.00	346|365	0	G			143400965|143400966	-1	tier1	-	no_errors	ENST00000443766	ensembl	human	known	74_37	rna	6.10|6.07	231|232	15	SNP	0.023|0.026	T
KIF28P	100130097	genome.wustl.edu	37	1	246939869	246939869	+	RNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:246939869A>G	ENST00000451123.1	-	0	1211				RP11-439E19.10_ENST00000567832.1_RNA|RP11-439E19.3_ENST00000505748.1_RNA|RP11-439E19.3_ENST00000421003.1_RNA|RP11-439E19.3_ENST00000509202.1_RNA																							TTCGCAAGTGATGCTTTGAGA	0.473																																																	0																																												0																															1.37:g.246939869A>G				RNA	SNP	-	NULL	ENST00000451123.1	37	NULL		1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886971	0.33348	.	.	ENSG00000223519	ENST00000451123	.	.	.	5.44	1.7	0.24286	.	.	.	.	.	T	0.29288	0.0729	.	.	.	.	.	.	.	.	.	.	.	.	T	0.30679	-0.9970	4	0.27785	T	0.31	.	2.9376	0.05819	0.5419:0.2272:0.0705:0.1604	.	.	.	.	P	253	.	ENSP00000412987:S253P	S	-	1	0	RP11-439E19.8	245006492	0.004000	0.15560	0.003000	0.11579	0.019000	0.09904	0.665000	0.25083	0.025000	0.15241	-0.263000	0.10527	TCA	RP11-439E19.3	-	-	ENSG00000227953		0.473	RP11-439E19.8-002	KNOWN	basic|exp_conf	processed_transcript	LOC149134	Clone_based_vega_gene	pseudogene	OTTHUMT00000331247.2	-	0.00	34	0	A			246939869	+1	tier1	-	no_errors	ENST00000421003	ensembl	human	known	74_37	rna	15.91	37	7	SNP	0.001	G
KIF28P	100130097	genome.wustl.edu	37	1	246939869	246939869	+	RNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:246939869A>G	ENST00000451123.1	-	0	1211				RP11-439E19.10_ENST00000567832.1_RNA|RP11-439E19.3_ENST00000505748.1_RNA|RP11-439E19.3_ENST00000421003.1_RNA|RP11-439E19.3_ENST00000509202.1_RNA																							TTCGCAAGTGATGCTTTGAGA	0.473																																																	0																																												0																															1.37:g.246939869A>G				RNA	SNP	-	NULL	ENST00000451123.1	37	NULL		1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886971	0.33348	.	.	ENSG00000223519	ENST00000451123	.	.	.	5.44	1.7	0.24286	.	.	.	.	.	T	0.29288	0.0729	.	.	.	.	.	.	.	.	.	.	.	.	T	0.30679	-0.9970	4	0.27785	T	0.31	.	2.9376	0.05819	0.5419:0.2272:0.0705:0.1604	.	.	.	.	P	253	.	ENSP00000412987:S253P	S	-	1	0	RP11-439E19.8	245006492	0.004000	0.15560	0.003000	0.11579	0.019000	0.09904	0.665000	0.25083	0.025000	0.15241	-0.263000	0.10527	TCA	RP11-439E19.3	-	-	ENSG00000227953		0.473	RP11-439E19.8-002	KNOWN	basic|exp_conf	processed_transcript	LOC149134	Clone_based_vega_gene	pseudogene	OTTHUMT00000331247.2	-	0.00	54	0	A			246939869	+1	tier1	-	no_errors	ENST00000421003	ensembl	human	known	74_37	rna	15.91	37	7	SNP	0.001	G
LOC644145	644145	genome.wustl.edu	37	4	56697559	56697559	+	lincRNA	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:56697559G>T	ENST00000504250.1	+	0	185					NR_003935.2																						AGGTTTAGATGAAAAATATGA	0.313																																																	0																																												0																															4.37:g.56697559G>T				RNA	SNP	-	NULL	ENST00000504250.1	37	NULL		4																																																																																			RP11-345F18.1	-	-	ENSG00000250821		0.313	RP11-345F18.1-001	KNOWN	basic	lincRNA	LOC644145	Clone_based_vega_gene	lincRNA	OTTHUMT00000361808.1	-	0.00	42	0	G			56697559	+1	tier1	-	no_errors	ENST00000504250	ensembl	human	known	74_37	rna	10.00	54	6	SNP	1.000	T
LOC644145	644145	genome.wustl.edu	37	4	56697559	56697559	+	lincRNA	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:56697559G>T	ENST00000504250.1	+	0	185					NR_003935.2																						AGGTTTAGATGAAAAATATGA	0.313																																																	0																																												0																															4.37:g.56697559G>T				RNA	SNP	-	NULL	ENST00000504250.1	37	NULL		4																																																																																			RP11-345F18.1	-	-	ENSG00000250821		0.313	RP11-345F18.1-001	KNOWN	basic	lincRNA	LOC644145	Clone_based_vega_gene	lincRNA	OTTHUMT00000361808.1	-	0.00	58	0	G			56697559	+1	tier1	-	no_errors	ENST00000504250	ensembl	human	known	74_37	rna	10.00	54	6	SNP	1.000	T
LPCAT4	254531	genome.wustl.edu	37	15	34651894	34651894	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:34651894C>G	ENST00000314891.6	-	13	1472	c.1295G>C	c.(1294-1296)gGc>gCc	p.G432A		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	432					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GGTGCTGAAGCCGTCTTTGTA	0.582																																																	0													70.0	62.0	65.0					15																	34651894		2201	4298	6499	SO:0001583	missense	0			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1295G>C	15.37:g.34651894C>G	ENSP00000317300:p.Gly432Ala		A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.G432A	ENST00000314891.6	37	c.1295	CCDS32191.1	15	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007031	0.54361	.	.	ENSG00000176454	ENST00000314891	T	0.80033	-1.33	5.62	5.62	0.85841	.	0.168748	0.52532	D	0.000073	T	0.73768	0.3629	N	0.08118	0	0.44579	D	0.997549	D	0.60575	0.988	P	0.54759	0.76	T	0.71797	-0.4484	10	0.16420	T	0.52	-19.2277	16.5781	0.84706	0.0:1.0:0.0:0.0	.	432	Q643R3	LPCT4_HUMAN	A	432	ENSP00000317300:G432A	ENSP00000317300:G432A	G	-	2	0	LPCAT4	32439186	0.981000	0.34729	0.998000	0.56505	0.548000	0.35241	2.587000	0.46128	2.633000	0.89246	0.655000	0.94253	GGC	LPCAT4	-	NULL	ENSG00000176454		0.582	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	HGNC	protein_coding	OTTHUMT00000418028.2	-	0.00	110	0	C	NM_153613		34651894	-1	tier1	-	no_errors	ENST00000314891	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	G
LPCAT4	254531	genome.wustl.edu	37	15	34651894	34651894	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:34651894C>G	ENST00000314891.6	-	13	1472	c.1295G>C	c.(1294-1296)gGc>gCc	p.G432A		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	432					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GGTGCTGAAGCCGTCTTTGTA	0.582																																																	0													70.0	62.0	65.0					15																	34651894		2201	4298	6499	SO:0001583	missense	0			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1295G>C	15.37:g.34651894C>G	ENSP00000317300:p.Gly432Ala		A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.G432A	ENST00000314891.6	37	c.1295	CCDS32191.1	15	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007031	0.54361	.	.	ENSG00000176454	ENST00000314891	T	0.80033	-1.33	5.62	5.62	0.85841	.	0.168748	0.52532	D	0.000073	T	0.73768	0.3629	N	0.08118	0	0.44579	D	0.997549	D	0.60575	0.988	P	0.54759	0.76	T	0.71797	-0.4484	10	0.16420	T	0.52	-19.2277	16.5781	0.84706	0.0:1.0:0.0:0.0	.	432	Q643R3	LPCT4_HUMAN	A	432	ENSP00000317300:G432A	ENSP00000317300:G432A	G	-	2	0	LPCAT4	32439186	0.981000	0.34729	0.998000	0.56505	0.548000	0.35241	2.587000	0.46128	2.633000	0.89246	0.655000	0.94253	GGC	LPCAT4	-	NULL	ENSG00000176454		0.582	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	HGNC	protein_coding	OTTHUMT00000418028.2	-	0.00	113	0	C	NM_153613		34651894	-1	tier1	-	no_errors	ENST00000314891	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	G
PLPPR4	9890	genome.wustl.edu	37	1	99771718	99771718	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:99771718A>G	ENST00000370185.3	+	7	1941	c.1444A>G	c.(1444-1446)Agc>Ggc	p.S482G	LPPR4_ENST00000370184.1_Missense_Mutation_p.S324G|LPPR4_ENST00000457765.1_Missense_Mutation_p.S424G	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		482					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATGAGGTCAAGCTCAGAGCC	0.517																																																	0													103.0	103.0	103.0					1																	99771718		2203	4300	6503	SO:0001583	missense	0																														ENST00000370185.3:c.1444A>G	1.37:g.99771718A>G	ENSP00000359204:p.Ser482Gly		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S482G	ENST00000370185.3	37	c.1444	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022744	0.35701	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.25085	2.39;2.37;1.82	5.7	5.7	0.88788	.	0.278419	0.46442	D	0.000288	T	0.18257	0.0438	L	0.46157	1.445	0.58432	D	0.99999	P;B	0.47106	0.89;0.025	P;B	0.45232	0.474;0.01	T	0.01212	-1.1417	9	.	.	.	-36.0512	15.9626	0.79941	1.0:0.0:0.0:0.0	.	424;482	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	G	482;424;482;324	ENSP00000359204:S482G;ENSP00000394913:S424G;ENSP00000359203:S324G	.	S	+	1	0	RP4-788L13.1	99544306	1.000000	0.71417	0.937000	0.37676	0.868000	0.49771	6.930000	0.75858	2.166000	0.68216	0.528000	0.53228	AGC	LPPR4	-	NULL	ENSG00000117600		0.517	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_gn	protein_coding	OTTHUMT00000029670.2	-	0.00	36	0	A			99771718	+1	tier1	-	no_errors	ENST00000370185	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	G
PLPPR4	9890	genome.wustl.edu	37	1	99771718	99771718	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:99771718A>G	ENST00000370185.3	+	7	1941	c.1444A>G	c.(1444-1446)Agc>Ggc	p.S482G	LPPR4_ENST00000370184.1_Missense_Mutation_p.S324G|LPPR4_ENST00000457765.1_Missense_Mutation_p.S424G	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		482					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATGAGGTCAAGCTCAGAGCC	0.517																																																	0													103.0	103.0	103.0					1																	99771718		2203	4300	6503	SO:0001583	missense	0																														ENST00000370185.3:c.1444A>G	1.37:g.99771718A>G	ENSP00000359204:p.Ser482Gly		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S482G	ENST00000370185.3	37	c.1444	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022744	0.35701	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.25085	2.39;2.37;1.82	5.7	5.7	0.88788	.	0.278419	0.46442	D	0.000288	T	0.18257	0.0438	L	0.46157	1.445	0.58432	D	0.99999	P;B	0.47106	0.89;0.025	P;B	0.45232	0.474;0.01	T	0.01212	-1.1417	9	.	.	.	-36.0512	15.9626	0.79941	1.0:0.0:0.0:0.0	.	424;482	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	G	482;424;482;324	ENSP00000359204:S482G;ENSP00000394913:S424G;ENSP00000359203:S324G	.	S	+	1	0	RP4-788L13.1	99544306	1.000000	0.71417	0.937000	0.37676	0.868000	0.49771	6.930000	0.75858	2.166000	0.68216	0.528000	0.53228	AGC	LPPR4	-	NULL	ENSG00000117600		0.517	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_gn	protein_coding	OTTHUMT00000029670.2	-	0.00	59	0	A			99771718	+1	tier1	-	no_errors	ENST00000370185	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	G
LRIG1	26018	genome.wustl.edu	37	3	66434524	66434524	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:66434524G>A	ENST00000273261.3	-	14	2486	c.1962C>T	c.(1960-1962)gaC>gaT	p.D654D	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	654	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAAACACGTCGTCATCCGGCA	0.537																																																	0													112.0	99.0	103.0					3																	66434524		2203	4300	6503	SO:0001819	synonymous_variant	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1962C>T	3.37:g.66434524G>A			Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D654	ENST00000273261.3	37	c.1962	CCDS33783.1	3																																																																																			LRIG1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000144749		0.537	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	-	0.00	45	0	G	NM_015541		66434524	-1	tier1	-	no_errors	ENST00000273261	ensembl	human	known	74_37	silent	17.14	29	6	SNP	0.896	A
LRIG1	26018	genome.wustl.edu	37	3	66434524	66434524	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:66434524G>A	ENST00000273261.3	-	14	2486	c.1962C>T	c.(1960-1962)gaC>gaT	p.D654D	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	654	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAAACACGTCGTCATCCGGCA	0.537																																																	0													112.0	99.0	103.0					3																	66434524		2203	4300	6503	SO:0001819	synonymous_variant	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1962C>T	3.37:g.66434524G>A			Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D654	ENST00000273261.3	37	c.1962	CCDS33783.1	3																																																																																			LRIG1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000144749		0.537	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	-	0.00	56	0	G	NM_015541		66434524	-1	tier1	-	no_errors	ENST00000273261	ensembl	human	known	74_37	silent	17.14	29	6	SNP	0.896	A
LRIG2	9860	genome.wustl.edu	37	1	113666539	113666539	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:113666539G>T	ENST00000361127.5	+	18	3212	c.3014G>T	c.(3013-3015)gGc>gTc	p.G1005V	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	1005					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGAGAACTAGGCCTGCCTCAT	0.463																																																	0													82.0	69.0	74.0					1																	113666539		2203	4300	6503	SO:0001583	missense	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.3014G>T	1.37:g.113666539G>T	ENSP00000355396:p.Gly1005Val		Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G1005V	ENST00000361127.5	37	c.3014	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679930	0.47886	.	.	ENSG00000198799	ENST00000361127	T	0.63096	-0.02	5.9	5.9	0.94986	.	0.288463	0.30085	N	0.010452	T	0.47619	0.1455	L	0.54323	1.7	0.44201	D	0.997023	P	0.35982	0.531	B	0.33799	0.17	T	0.52079	-0.8623	10	0.44086	T	0.13	.	16.7279	0.85428	0.0:0.1375:0.8625:0.0	.	1005	O94898	LRIG2_HUMAN	V	1005	ENSP00000355396:G1005V	ENSP00000355396:G1005V	G	+	2	0	LRIG2	113468062	0.998000	0.40836	0.688000	0.30117	0.996000	0.88848	4.743000	0.62110	2.798000	0.96311	0.650000	0.86243	GGC	LRIG2	-	NULL	ENSG00000198799		0.463	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	-	0.00	47	0	G	NM_014813		113666539	+1	tier1	-	no_errors	ENST00000361127	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.577	T
LRIG2	9860	genome.wustl.edu	37	1	113666539	113666539	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:113666539G>T	ENST00000361127.5	+	18	3212	c.3014G>T	c.(3013-3015)gGc>gTc	p.G1005V	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	1005					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGAGAACTAGGCCTGCCTCAT	0.463																																																	0													82.0	69.0	74.0					1																	113666539		2203	4300	6503	SO:0001583	missense	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.3014G>T	1.37:g.113666539G>T	ENSP00000355396:p.Gly1005Val		Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G1005V	ENST00000361127.5	37	c.3014	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679930	0.47886	.	.	ENSG00000198799	ENST00000361127	T	0.63096	-0.02	5.9	5.9	0.94986	.	0.288463	0.30085	N	0.010452	T	0.47619	0.1455	L	0.54323	1.7	0.44201	D	0.997023	P	0.35982	0.531	B	0.33799	0.17	T	0.52079	-0.8623	10	0.44086	T	0.13	.	16.7279	0.85428	0.0:0.1375:0.8625:0.0	.	1005	O94898	LRIG2_HUMAN	V	1005	ENSP00000355396:G1005V	ENSP00000355396:G1005V	G	+	2	0	LRIG2	113468062	0.998000	0.40836	0.688000	0.30117	0.996000	0.88848	4.743000	0.62110	2.798000	0.96311	0.650000	0.86243	GGC	LRIG2	-	NULL	ENSG00000198799		0.463	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	-	0.00	57	0	G	NM_014813		113666539	+1	tier1	-	no_errors	ENST00000361127	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.577	T
LRP12	29967	genome.wustl.edu	37	8	105502452	105502452	+	3'UTR	DEL	T	T	-	rs140959749	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:105502452delT	ENST00000276654.5	-	0	3137				LRP12_ENST00000424843.2_3'UTR|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGTATAAGGGTTTTTTTTTTG	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.*449A>-	8.37:g.105502452delT			A8K137|B4DRQ2	RNA	DEL	-	NULL	ENST00000276654.5	37	NULL	CCDS6303.1	8																																																																																			LRP12	-	-	ENSG00000147650		0.279	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1		0.00	66	0	T	NM_013437		105502452	-1	tier1		no_errors	ENST00000518375	ensembl	human	putative	74_37	rna	33.78	49	25	DEL	0.000	-
LRP12	29967	genome.wustl.edu	37	8	105509676	105509676	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:105509676A>C	ENST00000276654.5	-	5	1212	c.1104T>G	c.(1102-1104)acT>acG	p.T368T	LRP12_ENST00000424843.2_Silent_p.T349T|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	368	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTACTTGGTAAGTAGCATTAA	0.443																																																	0													107.0	108.0	108.0					8																	105509676		2203	4300	6503	SO:0001819	synonymous_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1104T>G	8.37:g.105509676A>C			A8K137|B4DRQ2	Silent	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.T349	ENST00000276654.5	37	c.1047	CCDS6303.1	8																																																																																			LRP12	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000147650		0.443	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0.00	54	0	A	NM_013437		105509676	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	silent	68.18	14	30	SNP	0.998	C
LRP12	29967	genome.wustl.edu	37	8	105509676	105509676	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:105509676A>C	ENST00000276654.5	-	5	1212	c.1104T>G	c.(1102-1104)acT>acG	p.T368T	LRP12_ENST00000424843.2_Silent_p.T349T|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	368	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTACTTGGTAAGTAGCATTAA	0.443																																																	0													107.0	108.0	108.0					8																	105509676		2203	4300	6503	SO:0001819	synonymous_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1104T>G	8.37:g.105509676A>C			A8K137|B4DRQ2	Silent	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.T349	ENST00000276654.5	37	c.1047	CCDS6303.1	8																																																																																			LRP12	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000147650		0.443	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0.00	87	0	A	NM_013437		105509676	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	silent	68.18	14	30	SNP	0.998	C
LRP1B	53353	genome.wustl.edu	37	2	141986843	141986843	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:141986843T>C	ENST00000389484.3	-	6	1730	c.759A>G	c.(757-759)agA>agG	p.R253R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	253					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGAAGATTCTCTTGATTCAA	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													97.0	96.0	96.0					2																	141986843		2202	4298	6500	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.759A>G	2.37:g.141986843T>C			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R253	ENST00000389484.3	37	c.759	CCDS2182.1	2																																																																																			LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000168702		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	42	0	T	NM_018557		141986843	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	32.00	51	24	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141986843	141986843	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:141986843T>C	ENST00000389484.3	-	6	1730	c.759A>G	c.(757-759)agA>agG	p.R253R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	253					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGAAGATTCTCTTGATTCAA	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													97.0	96.0	96.0					2																	141986843		2202	4298	6500	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.759A>G	2.37:g.141986843T>C			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R253	ENST00000389484.3	37	c.759	CCDS2182.1	2																																																																																			LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000168702		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	62	0	T	NM_018557		141986843	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	32.00	51	24	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	142012179	142012179	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:142012179A>G	ENST00000389484.3	-	4	1346	c.375T>C	c.(373-375)tgT>tgC	p.C125C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	125	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTATACTGACAATTCAGCT	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													132.0	119.0	123.0					2																	142012179		2201	4297	6498	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.375T>C	2.37:g.142012179A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C125	ENST00000389484.3	37	c.375	CCDS2182.1	2																																																																																			LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom	ENSG00000168702		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	23	0	A	NM_018557		142012179	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	18.92	30	7	SNP	1.000	G
LRP1B	53353	genome.wustl.edu	37	2	142012179	142012179	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:142012179A>G	ENST00000389484.3	-	4	1346	c.375T>C	c.(373-375)tgT>tgC	p.C125C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	125	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTATACTGACAATTCAGCT	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													132.0	119.0	123.0					2																	142012179		2201	4297	6498	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.375T>C	2.37:g.142012179A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C125	ENST00000389484.3	37	c.375	CCDS2182.1	2																																																																																			LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom	ENSG00000168702		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	31	0	A	NM_018557		142012179	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	18.92	30	7	SNP	1.000	G
LRRC14	9684	genome.wustl.edu	37	8	145746747	145746747	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:145746747A>G	ENST00000292524.1	+	4	1513	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R	LRRC14_ENST00000529022.1_Missense_Mutation_p.K456R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	456										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AATGAGGAGAAGTTTGCCCGC	0.632																																																	0													43.0	43.0	43.0					8																	145746747		2202	4299	6501	SO:0001583	missense	0			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1367A>G	8.37:g.145746747A>G	ENSP00000292524:p.Lys456Arg		A8K0A8|D3DWM8	Missense_Mutation	SNP	NULL	p.K456R	ENST00000292524.1	37	c.1367	CCDS6432.1	8	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692985	0.30052	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.01505	4.82;4.82	4.85	2.4	0.29515	.	0.292266	0.33959	N	0.004398	T	0.03095	0.0091	L	0.41236	1.265	0.30405	N	0.779643	D	0.71674	0.998	D	0.66351	0.943	T	0.09357	-1.0678	10	0.02654	T	1	.	5.1437	0.14973	0.7515:0.0:0.0891:0.1594	.	456	Q15048	LRC14_HUMAN	R	456	ENSP00000434768:K456R;ENSP00000292524:K456R	ENSP00000292524:K456R	K	+	2	0	LRRC14	145717555	1.000000	0.71417	0.998000	0.56505	0.011000	0.07611	1.489000	0.35562	0.337000	0.23665	-0.256000	0.11100	AAG	LRRC14	-	NULL	ENSG00000160959		0.632	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC14	HGNC	protein_coding	OTTHUMT00000382494.1	-	0.00	36	0	A	NM_014665		145746747	+1	tier1	-	no_errors	ENST00000292524	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	G
LRRC14	9684	genome.wustl.edu	37	8	145746747	145746747	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:145746747A>G	ENST00000292524.1	+	4	1513	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R	LRRC14_ENST00000529022.1_Missense_Mutation_p.K456R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	456										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AATGAGGAGAAGTTTGCCCGC	0.632																																																	0													43.0	43.0	43.0					8																	145746747		2202	4299	6501	SO:0001583	missense	0			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1367A>G	8.37:g.145746747A>G	ENSP00000292524:p.Lys456Arg		A8K0A8|D3DWM8	Missense_Mutation	SNP	NULL	p.K456R	ENST00000292524.1	37	c.1367	CCDS6432.1	8	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692985	0.30052	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.01505	4.82;4.82	4.85	2.4	0.29515	.	0.292266	0.33959	N	0.004398	T	0.03095	0.0091	L	0.41236	1.265	0.30405	N	0.779643	D	0.71674	0.998	D	0.66351	0.943	T	0.09357	-1.0678	10	0.02654	T	1	.	5.1437	0.14973	0.7515:0.0:0.0891:0.1594	.	456	Q15048	LRC14_HUMAN	R	456	ENSP00000434768:K456R;ENSP00000292524:K456R	ENSP00000292524:K456R	K	+	2	0	LRRC14	145717555	1.000000	0.71417	0.998000	0.56505	0.011000	0.07611	1.489000	0.35562	0.337000	0.23665	-0.256000	0.11100	AAG	LRRC14	-	NULL	ENSG00000160959		0.632	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC14	HGNC	protein_coding	OTTHUMT00000382494.1	-	0.00	39	0	A	NM_014665		145746747	+1	tier1	-	no_errors	ENST00000292524	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	G
LRRC30	339291	genome.wustl.edu	37	18	7231776	7231776	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:7231776T>A	ENST00000383467.2	+	1	654	c.640T>A	c.(640-642)Ttc>Atc	p.F214I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	214										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCAGATCTTCATCGCAGA	0.552																																																	0													64.0	69.0	67.0					18																	7231776		2135	4251	6386	SO:0001583	missense	0				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.640T>A	18.37:g.7231776T>A	ENSP00000372959:p.Phe214Ile			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F214I	ENST00000383467.2	37	c.640	CCDS42409.1	18	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802881	0.50315	.	.	ENSG00000206422	ENST00000383467	T	0.22336	1.96	5.95	4.8	0.61643	.	0.108661	0.64402	D	0.000003	T	0.15652	0.0377	L	0.31294	0.92	0.37894	D	0.930802	B	0.17465	0.022	B	0.13407	0.009	T	0.05784	-1.0864	10	0.59425	D	0.04	.	8.9515	0.35792	0.0:0.1411:0.0:0.8589	.	214	A6NM36	LRC30_HUMAN	I	214	ENSP00000372959:F214I	ENSP00000372959:F214I	F	+	1	0	LRRC30	7221776	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	3.732000	0.55021	1.086000	0.41228	0.528000	0.53228	TTC	LRRC30	-	NULL	ENSG00000206422		0.552	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	HGNC	protein_coding	OTTHUMT00000442140.1	-	0.00	54	0	T	XM_292678		7231776	+1	tier1	-	no_errors	ENST00000383467	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	A
LRRC30	339291	genome.wustl.edu	37	18	7231776	7231776	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:7231776T>A	ENST00000383467.2	+	1	654	c.640T>A	c.(640-642)Ttc>Atc	p.F214I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	214										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCAGATCTTCATCGCAGA	0.552																																																	0													64.0	69.0	67.0					18																	7231776		2135	4251	6386	SO:0001583	missense	0				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.640T>A	18.37:g.7231776T>A	ENSP00000372959:p.Phe214Ile			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F214I	ENST00000383467.2	37	c.640	CCDS42409.1	18	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802881	0.50315	.	.	ENSG00000206422	ENST00000383467	T	0.22336	1.96	5.95	4.8	0.61643	.	0.108661	0.64402	D	0.000003	T	0.15652	0.0377	L	0.31294	0.92	0.37894	D	0.930802	B	0.17465	0.022	B	0.13407	0.009	T	0.05784	-1.0864	10	0.59425	D	0.04	.	8.9515	0.35792	0.0:0.1411:0.0:0.8589	.	214	A6NM36	LRC30_HUMAN	I	214	ENSP00000372959:F214I	ENSP00000372959:F214I	F	+	1	0	LRRC30	7221776	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	3.732000	0.55021	1.086000	0.41228	0.528000	0.53228	TTC	LRRC30	-	NULL	ENSG00000206422		0.552	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	HGNC	protein_coding	OTTHUMT00000442140.1	-	0.00	72	0	T	XM_292678		7231776	+1	tier1	-	no_errors	ENST00000383467	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	A
LOC105371766	105371766	genome.wustl.edu	37	17	37186234	37186234	+	lincRNA	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:37186234C>T	ENST00000582518.1	-	0	0				LRRC37A11P_ENST00000425901.2_RNA																							ACAGAGCCTACTGCAGAGGTG	0.527																																																	0																																												0																															17.37:g.37186234C>T				RNA	SNP	-	NULL	ENST00000582518.1	37	NULL		17																																																																																			LRRC37A11P	-	-	ENSG00000214553		0.527	CTD-2206N4.2-001	KNOWN	basic	lincRNA	LRRC37A11P	HGNC	lincRNA	OTTHUMT00000444097.1	-	0.00	105	0	C			37186234	+1	tier1	-	no_errors	ENST00000425901	ensembl	human	known	74_37	rna	6.51	200	14	SNP	0.008	T
LOC105371766	105371766	genome.wustl.edu	37	17	37186234	37186234	+	lincRNA	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:37186234C>T	ENST00000582518.1	-	0	0				LRRC37A11P_ENST00000425901.2_RNA																							ACAGAGCCTACTGCAGAGGTG	0.527																																																	0																																												0																															17.37:g.37186234C>T				RNA	SNP	-	NULL	ENST00000582518.1	37	NULL		17																																																																																			LRRC37A11P	-	-	ENSG00000214553		0.527	CTD-2206N4.2-001	KNOWN	basic	lincRNA	LRRC37A11P	HGNC	lincRNA	OTTHUMT00000444097.1	-	0.00	108	0	C			37186234	+1	tier1	-	no_errors	ENST00000425901	ensembl	human	known	74_37	rna	6.51	200	14	SNP	0.008	T
LRRC8A	56262	genome.wustl.edu	37	9	131669999	131669999	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:131669999G>T	ENST00000259324.5	+	3	1079	c.556G>T	c.(556-558)Gcc>Tcc	p.A186S	LRRC8A_ENST00000372600.4_Missense_Mutation_p.A186S|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A186S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	186					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCCCAAGCCGGCCTTCAGCAA	0.602																																																	0													37.0	33.0	34.0					9																	131669999		2203	4300	6503	SO:0001583	missense	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.556G>T	9.37:g.131669999G>T	ENSP00000259324:p.Ala186Ser		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A186S	ENST00000259324.5	37	c.556	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	G	1.452	-0.564646	0.03939	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.27557	1.66;1.66;1.66	5.01	3.15	0.36227	.	0.571293	0.20425	N	0.092588	T	0.14442	0.0349	N	0.14661	0.345	0.40742	D	0.982845	B	0.18013	0.025	B	0.16289	0.015	T	0.07290	-1.0780	10	0.08179	T	0.78	.	8.3716	0.32419	0.2453:0.0:0.7547:0.0	.	186	Q8IWT6	LRC8A_HUMAN	S	186	ENSP00000361682:A186S;ENSP00000361680:A186S;ENSP00000259324:A186S	ENSP00000259324:A186S	A	+	1	0	LRRC8A	130709820	0.995000	0.38212	0.991000	0.47740	0.995000	0.86356	2.229000	0.42990	1.120000	0.41904	0.563000	0.77884	GCC	LRRC8A	-	NULL	ENSG00000136802		0.602	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2		0.00	37	0	G	NM_019594		131669999	+1			no_errors	ENST00000259324	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.906	T
LRTM1	57408	genome.wustl.edu	37	3	54952519	54952519	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:54952519T>G	ENST00000273286.5	-	3	1167	c.1005A>C	c.(1003-1005)gaA>gaC	p.E335D	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.E259D	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	335						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCTCTTTTTCTTCCACCTTCC	0.512																																																	0													183.0	176.0	178.0					3																	54952519		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.1005A>C	3.37:g.54952519T>G	ENSP00000273286:p.Glu335Asp		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E335D	ENST00000273286.5	37	c.1005	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	T	12.43	1.934781	0.34189	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.52295	0.67;0.99	5.48	4.31	0.51392	.	0.637076	0.16454	N	0.213712	T	0.40372	0.1114	M	0.64997	1.995	0.25030	N	0.991273	B	0.10296	0.003	B	0.06405	0.002	T	0.31998	-0.9923	10	0.22109	T	0.4	.	5.8392	0.18625	0.0:0.1082:0.1655:0.7262	.	335	Q9HBL6	LRTM1_HUMAN	D	335;259	ENSP00000273286:E335D;ENSP00000419772:E259D	ENSP00000273286:E335D	E	-	3	2	LRTM1	54927559	0.698000	0.27777	0.129000	0.21949	0.006000	0.05464	0.512000	0.22755	0.892000	0.36259	-0.488000	0.04728	GAA	LRTM1	-	NULL	ENSG00000144771		0.512	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0.00	38	0	T	NM_020678		54952519	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.784	G
LUM	4060	genome.wustl.edu	37	12	91502123	91502123	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:91502123A>C	ENST00000266718.4	-	2	1088	c.634T>G	c.(634-636)Tta>Gta	p.L212V	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	212					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTGTTGTCTAAGTAGAGAGTT	0.413																																																	0													155.0	149.0	151.0					12																	91502123		2203	4300	6503	SO:0001583	missense	0			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.634T>G	12.37:g.91502123A>C	ENSP00000266718:p.Leu212Val		B2R6R5|Q96QM7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L212V	ENST00000266718.4	37	c.634	CCDS9038.1	12	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441698	0.43326	.	.	ENSG00000139329	ENST00000266718	T	0.74421	-0.84	5.84	-0.883	0.10600	.	0.214024	0.40222	N	0.001147	T	0.78953	0.4365	M	0.61703	1.905	0.29358	N	0.864885	D	0.53619	0.961	P	0.59012	0.85	T	0.76578	-0.2908	10	0.72032	D	0.01	-21.4355	12.0072	0.53265	0.7742:0.0:0.2258:0.0	.	212	P51884	LUM_HUMAN	V	212	ENSP00000266718:L212V	ENSP00000266718:L212V	L	-	1	2	LUM	90026254	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	2.102000	0.41796	-0.057000	0.13199	-0.379000	0.06801	TTA	LUM	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000139329		0.413	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUM	HGNC	protein_coding	OTTHUMT00000407150.2	-	0.00	32	0	A	NM_002345		91502123	-1	tier1	-	no_errors	ENST00000266718	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.998	C
LUM	4060	genome.wustl.edu	37	12	91502123	91502123	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:91502123A>C	ENST00000266718.4	-	2	1088	c.634T>G	c.(634-636)Tta>Gta	p.L212V	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	212					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTGTTGTCTAAGTAGAGAGTT	0.413																																																	0													155.0	149.0	151.0					12																	91502123		2203	4300	6503	SO:0001583	missense	0			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.634T>G	12.37:g.91502123A>C	ENSP00000266718:p.Leu212Val		B2R6R5|Q96QM7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L212V	ENST00000266718.4	37	c.634	CCDS9038.1	12	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441698	0.43326	.	.	ENSG00000139329	ENST00000266718	T	0.74421	-0.84	5.84	-0.883	0.10600	.	0.214024	0.40222	N	0.001147	T	0.78953	0.4365	M	0.61703	1.905	0.29358	N	0.864885	D	0.53619	0.961	P	0.59012	0.85	T	0.76578	-0.2908	10	0.72032	D	0.01	-21.4355	12.0072	0.53265	0.7742:0.0:0.2258:0.0	.	212	P51884	LUM_HUMAN	V	212	ENSP00000266718:L212V	ENSP00000266718:L212V	L	-	1	2	LUM	90026254	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	2.102000	0.41796	-0.057000	0.13199	-0.379000	0.06801	TTA	LUM	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000139329		0.413	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUM	HGNC	protein_coding	OTTHUMT00000407150.2	-	0.00	52	0	A	NM_002345		91502123	-1	tier1	-	no_errors	ENST00000266718	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.998	C
LZTR1	8216	genome.wustl.edu	37	22	21346611	21346611	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:21346611G>C	ENST00000215739.8	+	10	1461	c.1102G>C	c.(1102-1104)Gac>Cac	p.D368H	LZTR1_ENST00000389355.3_Missense_Mutation_p.D349H|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	368					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTTTGGCCTGGACTTTGGCAC	0.607																																																	0													89.0	84.0	86.0					22																	21346611		2203	4300	6503	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1102G>C	22.37:g.21346611G>C	ENSP00000215739:p.Asp368His		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.D368H	ENST00000215739.8	37	c.1102	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213650	0.39102	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.60548	0.73;0.18	5.21	4.15	0.48705	.	0.443136	0.22998	N	0.053119	T	0.35038	0.0918	N	0.08118	0	0.35573	D	0.805652	B;B;B;B	0.33637	0.0;0.02;0.42;0.216	B;B;B;B	0.28916	0.001;0.018;0.048;0.096	T	0.53187	-0.8474	10	0.62326	D	0.03	-30.1235	11.9661	0.53035	0.0:0.1735:0.8265:0.0	.	349;327;368;327	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	327;368;349	ENSP00000215739:D368H;ENSP00000374006:D349H	ENSP00000215739:D368H	D	+	1	0	LZTR1	19676611	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.455000	0.52993	2.440000	0.82611	0.456000	0.33151	GAC	LZTR1	-	NULL	ENSG00000099949		0.607	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0.00	57	0	G	NM_006767		21346611	+1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	C
LZTR1	8216	genome.wustl.edu	37	22	21346611	21346611	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:21346611G>C	ENST00000215739.8	+	10	1461	c.1102G>C	c.(1102-1104)Gac>Cac	p.D368H	LZTR1_ENST00000389355.3_Missense_Mutation_p.D349H|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	368					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTTTGGCCTGGACTTTGGCAC	0.607																																																	0													89.0	84.0	86.0					22																	21346611		2203	4300	6503	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1102G>C	22.37:g.21346611G>C	ENSP00000215739:p.Asp368His		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.D368H	ENST00000215739.8	37	c.1102	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213650	0.39102	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.60548	0.73;0.18	5.21	4.15	0.48705	.	0.443136	0.22998	N	0.053119	T	0.35038	0.0918	N	0.08118	0	0.35573	D	0.805652	B;B;B;B	0.33637	0.0;0.02;0.42;0.216	B;B;B;B	0.28916	0.001;0.018;0.048;0.096	T	0.53187	-0.8474	10	0.62326	D	0.03	-30.1235	11.9661	0.53035	0.0:0.1735:0.8265:0.0	.	349;327;368;327	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	327;368;349	ENSP00000215739:D368H;ENSP00000374006:D349H	ENSP00000215739:D368H	D	+	1	0	LZTR1	19676611	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.455000	0.52993	2.440000	0.82611	0.456000	0.33151	GAC	LZTR1	-	NULL	ENSG00000099949		0.607	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0.00	62	0	G	NM_006767		21346611	+1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	C
MAGEA8	4107	genome.wustl.edu	37	X	149013830	149013830	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:149013830C>T	ENST00000542674.1	+	3	1305	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	MAGEA8_ENST00000286482.1_Missense_Mutation_p.R262C|MAGEA8_ENST00000535454.1_Missense_Mutation_p.R262C	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	262	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R262C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGAGTACCGCCAGGCGCC	0.582																																																	1	Substitution - Missense(1)	lung(1)											109.0	102.0	104.0					X																	149013830		2203	4298	6501	SO:0001583	missense	0				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.784C>T	X.37:g.149013830C>T	ENSP00000443776:p.Arg262Cys		Q9BUN9	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R262C	ENST00000542674.1	37	c.784	CCDS14692.1	X	.	.	.	.	.	.	.	.	.	.	.	13.37	2.216897	0.39201	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.06449	3.3;3.3;3.3	1.0	-0.0909	0.13663	.	1.066030	0.07318	N	0.877049	T	0.23330	0.0564	M	0.87682	2.9	0.18873	N	0.999984	D	0.89917	1.0	D	0.68483	0.958	T	0.09640	-1.0665	10	0.66056	D	0.02	.	3.8134	0.08806	0.421:0.579:0.0:0.0	.	262	P43361	MAGA8_HUMAN	C	262	ENSP00000438293:R262C;ENSP00000443776:R262C;ENSP00000286482:R262C	ENSP00000286482:R262C	R	+	1	0	MAGEA8	148774488	0.002000	0.14202	0.154000	0.22540	0.312000	0.27988	0.246000	0.18160	-0.095000	0.12351	0.190000	0.17370	CGC	MAGEA8	-	pfam_MAGE,pfscan_MAGE	ENSG00000156009		0.582	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA8	HGNC	protein_coding	OTTHUMT00000058728.1	-	0.00	84	0	C	NM_005364		149013830	+1	tier1	-	no_errors	ENST00000286482	ensembl	human	known	74_37	missense	43.84	40	32	SNP	0.134	T
MAGEA8	4107	genome.wustl.edu	37	X	149013830	149013830	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:149013830C>T	ENST00000542674.1	+	3	1305	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	MAGEA8_ENST00000286482.1_Missense_Mutation_p.R262C|MAGEA8_ENST00000535454.1_Missense_Mutation_p.R262C	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	262	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R262C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGAGTACCGCCAGGCGCC	0.582																																																	1	Substitution - Missense(1)	lung(1)											109.0	102.0	104.0					X																	149013830		2203	4298	6501	SO:0001583	missense	0				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.784C>T	X.37:g.149013830C>T	ENSP00000443776:p.Arg262Cys		Q9BUN9	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R262C	ENST00000542674.1	37	c.784	CCDS14692.1	X	.	.	.	.	.	.	.	.	.	.	.	13.37	2.216897	0.39201	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.06449	3.3;3.3;3.3	1.0	-0.0909	0.13663	.	1.066030	0.07318	N	0.877049	T	0.23330	0.0564	M	0.87682	2.9	0.18873	N	0.999984	D	0.89917	1.0	D	0.68483	0.958	T	0.09640	-1.0665	10	0.66056	D	0.02	.	3.8134	0.08806	0.421:0.579:0.0:0.0	.	262	P43361	MAGA8_HUMAN	C	262	ENSP00000438293:R262C;ENSP00000443776:R262C;ENSP00000286482:R262C	ENSP00000286482:R262C	R	+	1	0	MAGEA8	148774488	0.002000	0.14202	0.154000	0.22540	0.312000	0.27988	0.246000	0.18160	-0.095000	0.12351	0.190000	0.17370	CGC	MAGEA8	-	pfam_MAGE,pfscan_MAGE	ENSG00000156009		0.582	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA8	HGNC	protein_coding	OTTHUMT00000058728.1	-	0.00	86	0	C	NM_005364		149013830	+1	tier1	-	no_errors	ENST00000286482	ensembl	human	known	74_37	missense	43.84	40	32	SNP	0.134	T
MAGEA4	4103	genome.wustl.edu	37	X	151092794	151092794	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:151092794G>C	ENST00000360243.2	+	3	925	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	MAGEA4_ENST00000393921.1_Missense_Mutation_p.E220Q|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E220Q|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E220Q|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E220Q|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E220Q|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E220Q	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	220	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CGCCTCTGAGGAGGAAATCTG	0.547																																																	0													104.0	108.0	107.0					X																	151092794		2203	4300	6503	SO:0001583	missense	0				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.658G>C	X.37:g.151092794G>C	ENSP00000353379:p.Glu220Gln		Q14798	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E220Q	ENST00000360243.2	37	c.658	CCDS14702.1	X	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590060	0.46214	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54	2.37	2.37	0.29283	.	0.628911	0.16967	N	0.192268	T	0.24547	0.0595	M	0.87328	2.875	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01688	-1.1295	9	.	.	.	.	7.4975	0.27498	0.0:0.0:1.0:0.0	.	220	P43358	MAGA4_HUMAN	Q	220	ENSP00000276344:E220Q;ENSP00000377498:E220Q;ENSP00000394149:E220Q;ENSP00000359362:E220Q;ENSP00000402624:E220Q;ENSP00000377497:E220Q;ENSP00000359365:E220Q;ENSP00000394073:E220Q;ENSP00000402186:E220Q;ENSP00000359360:E220Q;ENSP00000353379:E220Q;ENSP00000390096:E220Q	.	E	+	1	0	MAGEA4	150843450	0.001000	0.12720	0.027000	0.17364	0.231000	0.25187	-0.024000	0.12435	1.467000	0.48044	0.292000	0.19580	GAG	MAGEA4	-	pfam_MAGE,pfscan_MAGE	ENSG00000147381		0.547	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA4	HGNC	protein_coding	OTTHUMT00000060898.1	-	0.00	57	0	G	NM_002362		151092794	+1	tier1	-	no_errors	ENST00000276344	ensembl	human	known	74_37	missense	26.79	41	15	SNP	0.025	C
MAGEA4	4103	genome.wustl.edu	37	X	151092794	151092794	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:151092794G>C	ENST00000360243.2	+	3	925	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	MAGEA4_ENST00000393921.1_Missense_Mutation_p.E220Q|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E220Q|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E220Q|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E220Q|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E220Q|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E220Q	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	220	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CGCCTCTGAGGAGGAAATCTG	0.547																																																	0													104.0	108.0	107.0					X																	151092794		2203	4300	6503	SO:0001583	missense	0				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.658G>C	X.37:g.151092794G>C	ENSP00000353379:p.Glu220Gln		Q14798	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E220Q	ENST00000360243.2	37	c.658	CCDS14702.1	X	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590060	0.46214	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54	2.37	2.37	0.29283	.	0.628911	0.16967	N	0.192268	T	0.24547	0.0595	M	0.87328	2.875	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01688	-1.1295	9	.	.	.	.	7.4975	0.27498	0.0:0.0:1.0:0.0	.	220	P43358	MAGA4_HUMAN	Q	220	ENSP00000276344:E220Q;ENSP00000377498:E220Q;ENSP00000394149:E220Q;ENSP00000359362:E220Q;ENSP00000402624:E220Q;ENSP00000377497:E220Q;ENSP00000359365:E220Q;ENSP00000394073:E220Q;ENSP00000402186:E220Q;ENSP00000359360:E220Q;ENSP00000353379:E220Q;ENSP00000390096:E220Q	.	E	+	1	0	MAGEA4	150843450	0.001000	0.12720	0.027000	0.17364	0.231000	0.25187	-0.024000	0.12435	1.467000	0.48044	0.292000	0.19580	GAG	MAGEA4	-	pfam_MAGE,pfscan_MAGE	ENSG00000147381		0.547	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA4	HGNC	protein_coding	OTTHUMT00000060898.1	-	0.00	61	0	G	NM_002362		151092794	+1	tier1	-	no_errors	ENST00000276344	ensembl	human	known	74_37	missense	26.79	41	15	SNP	0.025	C
MAGEL2	54551	genome.wustl.edu	37	15	23889690	23889690	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:23889690T>C	ENST00000532292.1	-	1	1485	c.1391A>G	c.(1390-1392)aAt>aGt	p.N464S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	347	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTCCAGCTTATTGTTGGCACG	0.443																																																	0													81.0	75.0	77.0					15																	23889690		1922	4138	6060	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1391A>G	15.37:g.23889690T>C	ENSP00000433433:p.Asn464Ser			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.N464S	ENST00000532292.1	37	c.1391		15	.	.	.	.	.	.	.	.	.	.	T	8.798	0.932226	0.18131	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.52	-3.2	0.05156	.	.	.	.	.	T	0.15132	0.0365	N	0.16656	0.425	0.09310	N	1	.	.	.	.	.	.	T	0.23332	-1.0191	5	.	.	.	.	0.0597	0.00015	0.2692:0.1862:0.2311:0.3135	.	.	.	.	V	496	.	.	I	-	1	0	MAGEL2	21440783	0.000000	0.05858	0.013000	0.15412	0.981000	0.71138	-0.736000	0.04882	-0.708000	0.05015	-0.605000	0.04089	ATA	MAGEL2	-	pfam_MAGE,pfscan_MAGE	ENSG00000254585		0.443	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0.00	48	0	T	NM_019066		23889690	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.003	C
MAGEL2	54551	genome.wustl.edu	37	15	23889690	23889690	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:23889690T>C	ENST00000532292.1	-	1	1485	c.1391A>G	c.(1390-1392)aAt>aGt	p.N464S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	347	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTCCAGCTTATTGTTGGCACG	0.443																																																	0													81.0	75.0	77.0					15																	23889690		1922	4138	6060	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1391A>G	15.37:g.23889690T>C	ENSP00000433433:p.Asn464Ser			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.N464S	ENST00000532292.1	37	c.1391		15	.	.	.	.	.	.	.	.	.	.	T	8.798	0.932226	0.18131	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.52	-3.2	0.05156	.	.	.	.	.	T	0.15132	0.0365	N	0.16656	0.425	0.09310	N	1	.	.	.	.	.	.	T	0.23332	-1.0191	5	.	.	.	.	0.0597	0.00015	0.2692:0.1862:0.2311:0.3135	.	.	.	.	V	496	.	.	I	-	1	0	MAGEL2	21440783	0.000000	0.05858	0.013000	0.15412	0.981000	0.71138	-0.736000	0.04882	-0.708000	0.05015	-0.605000	0.04089	ATA	MAGEL2	-	pfam_MAGE,pfscan_MAGE	ENSG00000254585		0.443	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0.00	55	0	T	NM_019066		23889690	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.003	C
MALAT1	378938	genome.wustl.edu	37	11	65269897	65269898	+	lincRNA	INS	-	-	T	rs35843482|rs398016425|rs573496110	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:65269897_65269898insT	ENST00000534336.1	+	0	4665_4666					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GTGTAAGCAAGTTTTTTTTTAG	0.302													TTTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|deletion	486	0.0970447	0.115	0.0706	5008	,	,		15821	0.0833		0.0686	False		,,,				2504	0.135																0																																												0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269906_65269906dupT				RNA	INS	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.302	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1		0.00	41	0	-	NR_002819		65269898	+1	tier1		no_errors	ENST00000534336	ensembl	human	known	74_37	rna	8.33	33	3	INS	0.985:0.013	T
MALAT1	378938	genome.wustl.edu	37	11	65269897	65269898	+	lincRNA	INS	-	-	T	rs35843482|rs398016425|rs573496110	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:65269897_65269898insT	ENST00000534336.1	+	0	4665_4666					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GTGTAAGCAAGTTTTTTTTTAG	0.302													TTTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|deletion	486	0.0970447	0.115	0.0706	5008	,	,		15821	0.0833		0.0686	False		,,,				2504	0.135																0																																												0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269906_65269906dupT				RNA	INS	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.302	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1		0.00	59	0	-	NR_002819		65269898	+1	tier1		no_errors	ENST00000534336	ensembl	human	known	74_37	rna	8.33	33	3	INS	0.985:0.013	T
MAN1A1	4121	genome.wustl.edu	37	6	119522431	119522431	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:119522431G>T	ENST00000368468.3	-	8	1639	c.1198C>A	c.(1198-1200)Cag>Aag	p.Q400K		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	400					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGACCCCACTGTCCACTACTG	0.373																																					Ovarian(136;8 1825 12608 33541 47587)												0													162.0	161.0	161.0					6																	119522431		2203	4300	6503	SO:0001583	missense	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1198C>A	6.37:g.119522431G>T	ENSP00000357453:p.Gln400Lys		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.Q400K	ENST00000368468.3	37	c.1198	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	G	11.64	1.700018	0.30142	.	.	ENSG00000111885	ENST00000368468	T	0.70986	-0.53	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	N	0.11870	0.19	0.80722	D	1	B	0.33964	0.434	B	0.40009	0.316	T	0.52245	-0.8601	10	0.02654	T	1	-21.4156	19.8167	0.96571	0.0:0.0:1.0:0.0	.	400	P33908	MA1A1_HUMAN	K	400	ENSP00000357453:Q400K	ENSP00000357453:Q400K	Q	-	1	0	MAN1A1	119564130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.075000	0.64407	2.762000	0.94881	0.591000	0.81541	CAG	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000111885		0.373	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	-	0.00	77	0	G	NM_005907		119522431	-1	tier1	-	no_errors	ENST00000368468	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
MAN1A1	4121	genome.wustl.edu	37	6	119522431	119522431	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:119522431G>T	ENST00000368468.3	-	8	1639	c.1198C>A	c.(1198-1200)Cag>Aag	p.Q400K		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	400					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGACCCCACTGTCCACTACTG	0.373																																					Ovarian(136;8 1825 12608 33541 47587)												0													162.0	161.0	161.0					6																	119522431		2203	4300	6503	SO:0001583	missense	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1198C>A	6.37:g.119522431G>T	ENSP00000357453:p.Gln400Lys		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.Q400K	ENST00000368468.3	37	c.1198	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	G	11.64	1.700018	0.30142	.	.	ENSG00000111885	ENST00000368468	T	0.70986	-0.53	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	N	0.11870	0.19	0.80722	D	1	B	0.33964	0.434	B	0.40009	0.316	T	0.52245	-0.8601	10	0.02654	T	1	-21.4156	19.8167	0.96571	0.0:0.0:1.0:0.0	.	400	P33908	MA1A1_HUMAN	K	400	ENSP00000357453:Q400K	ENSP00000357453:Q400K	Q	-	1	0	MAN1A1	119564130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.075000	0.64407	2.762000	0.94881	0.591000	0.81541	CAG	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000111885		0.373	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	-	0.00	85	0	G	NM_005907		119522431	-1	tier1	-	no_errors	ENST00000368468	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
MAP3K14-AS1	100133991	genome.wustl.edu	37	17	43348297	43348297	+	RNA	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:43348297G>T	ENST00000585780.1	+	0	4950				MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA					MAP3K14 antisense RNA 1																		TTTGAATTAGGATCCCACATG	0.607											OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												0			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43348297G>T		915		RNA	SNP	-	NULL	ENST00000585780.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	G	5.911	0.352105	0.11182	.	.	ENSG00000006062	ENST00000376926	.	.	.	3.81	0.636	0.17729	.	.	.	.	.	T	0.37156	0.0993	.	.	.	.	.	.	.	.	.	.	.	.	T	0.46843	-0.9162	4	0.72032	D	0.01	.	3.0612	0.06200	0.2313:0.0:0.5555:0.2132	.	.	.	.	Y	433	.	ENSP00000366125:S433Y	S	-	2	0	MAP3K14	40704080	0.557000	0.26546	0.159000	0.22649	0.172000	0.22775	0.719000	0.25881	0.184000	0.20083	-0.379000	0.06801	TCC	MAP3K14	-	-	ENSG00000006062		0.607	MAP3K14-AS1-008	KNOWN	basic	antisense	MAP3K14	HGNC	antisense	OTTHUMT00000450941.1	-	0.00	21	0	G	NR_024434		43348297	-1	tier1	-	no_errors	ENST00000376926	ensembl	human	known	74_37	rna	46.15	7	6	SNP	0.336	T
MAP3K14-AS1	100133991	genome.wustl.edu	37	17	43348297	43348297	+	RNA	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:43348297G>T	ENST00000585780.1	+	0	4950				MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA					MAP3K14 antisense RNA 1																		TTTGAATTAGGATCCCACATG	0.607											OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												0			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43348297G>T		915		RNA	SNP	-	NULL	ENST00000585780.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	G	5.911	0.352105	0.11182	.	.	ENSG00000006062	ENST00000376926	.	.	.	3.81	0.636	0.17729	.	.	.	.	.	T	0.37156	0.0993	.	.	.	.	.	.	.	.	.	.	.	.	T	0.46843	-0.9162	4	0.72032	D	0.01	.	3.0612	0.06200	0.2313:0.0:0.5555:0.2132	.	.	.	.	Y	433	.	ENSP00000366125:S433Y	S	-	2	0	MAP3K14	40704080	0.557000	0.26546	0.159000	0.22649	0.172000	0.22775	0.719000	0.25881	0.184000	0.20083	-0.379000	0.06801	TCC	MAP3K14	-	-	ENSG00000006062		0.607	MAP3K14-AS1-008	KNOWN	basic	antisense	MAP3K14	HGNC	antisense	OTTHUMT00000450941.1	-	0.00	28	0	G	NR_024434		43348297	-1	tier1	-	no_errors	ENST00000376926	ensembl	human	known	74_37	rna	46.15	7	6	SNP	0.336	T
MAP3K2	10746	genome.wustl.edu	37	2	128075781	128075781	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:128075781T>G	ENST00000409947.1	-	13	1440	c.1158A>C	c.(1156-1158)caA>caC	p.Q386H	MAP3K2_ENST00000344908.5_Missense_Mutation_p.Q386H|RNU6-1147P_ENST00000363380.1_RNA			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	CAAATTGAACTTGCTTAACAG	0.393																																																	0													117.0	114.0	115.0					2																	128075781		1862	4091	5953	SO:0001583	missense	0			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1158A>C	2.37:g.128075781T>G	ENSP00000387246:p.Gln386His		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q386H	ENST00000409947.1	37	c.1158	CCDS46404.1	2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098432	0.76870	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.25085	1.82;1.82	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101621	0.64402	D	0.000001	T	0.36138	0.0956	L	0.33339	1.005	0.54753	D	0.999983	P	0.44986	0.847	P	0.54706	0.759	T	0.10683	-1.0619	10	0.87932	D	0	.	16.0044	0.80349	0.0:0.0:0.0:1.0	.	386	Q9Y2U5	M3K2_HUMAN	H	386	ENSP00000387246:Q386H;ENSP00000343463:Q386H	ENSP00000343463:Q386H	Q	-	3	2	MAP3K2	127792251	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.658000	0.46733	2.175000	0.68902	0.477000	0.44152	CAA	MAP3K2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000169967		0.393	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1	-	0.00	76	0	T	NM_006609		128075781	-1	tier1	-	no_errors	ENST00000344908	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	G
MAP3K2	10746	genome.wustl.edu	37	2	128075781	128075781	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:128075781T>G	ENST00000409947.1	-	13	1440	c.1158A>C	c.(1156-1158)caA>caC	p.Q386H	MAP3K2_ENST00000344908.5_Missense_Mutation_p.Q386H|RNU6-1147P_ENST00000363380.1_RNA			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	CAAATTGAACTTGCTTAACAG	0.393																																																	0													117.0	114.0	115.0					2																	128075781		1862	4091	5953	SO:0001583	missense	0			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1158A>C	2.37:g.128075781T>G	ENSP00000387246:p.Gln386His		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q386H	ENST00000409947.1	37	c.1158	CCDS46404.1	2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098432	0.76870	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.25085	1.82;1.82	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101621	0.64402	D	0.000001	T	0.36138	0.0956	L	0.33339	1.005	0.54753	D	0.999983	P	0.44986	0.847	P	0.54706	0.759	T	0.10683	-1.0619	10	0.87932	D	0	.	16.0044	0.80349	0.0:0.0:0.0:1.0	.	386	Q9Y2U5	M3K2_HUMAN	H	386	ENSP00000387246:Q386H;ENSP00000343463:Q386H	ENSP00000343463:Q386H	Q	-	3	2	MAP3K2	127792251	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.658000	0.46733	2.175000	0.68902	0.477000	0.44152	CAA	MAP3K2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000169967		0.393	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1	-	0.00	96	0	T	NM_006609		128075781	-1	tier1	-	no_errors	ENST00000344908	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	G
MAP3K4	4216	genome.wustl.edu	37	6	161470381	161470381	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:161470381G>T	ENST00000392142.4	+	3	1225	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	MAP3K4_ENST00000348824.7_Missense_Mutation_p.E359D|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E359D|MAP3K4_ENST00000366919.2_Missense_Mutation_p.E359D	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	359					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGATAATGGAGCTGCTAGAGT	0.458																																																	0													88.0	89.0	89.0					6																	161470381		2203	4300	6503	SO:0001583	missense	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1077G>T	6.37:g.161470381G>T	ENSP00000375986:p.Glu359Asp		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E359D	ENST00000392142.4	37	c.1077	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501174	0.26861	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.96	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	L	0.33485	1.01	0.38245	D	0.941449	B;B	0.19200	0.027;0.034	B;B	0.17433	0.018;0.012	T	0.09773	-1.0659	10	0.18710	T	0.47	-38.1646	8.6249	0.33883	0.1353:0.1257:0.739:0.0	.	359;359	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	D	359	ENSP00000355886:E359D;ENSP00000375986:E359D;ENSP00000355887:E359D;ENSP00000297332:E359D	ENSP00000297332:E359D	E	+	3	2	MAP3K4	161390371	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.504000	0.53347	1.541000	0.49316	-0.142000	0.14014	GAG	MAP3K4	-	NULL	ENSG00000085511		0.458	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	-	0.00	46	0	G			161470381	+1	tier1	-	no_errors	ENST00000392142	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
MAP3K4	4216	genome.wustl.edu	37	6	161470381	161470381	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:161470381G>T	ENST00000392142.4	+	3	1225	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	MAP3K4_ENST00000348824.7_Missense_Mutation_p.E359D|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E359D|MAP3K4_ENST00000366919.2_Missense_Mutation_p.E359D	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	359					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGATAATGGAGCTGCTAGAGT	0.458																																																	0													88.0	89.0	89.0					6																	161470381		2203	4300	6503	SO:0001583	missense	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1077G>T	6.37:g.161470381G>T	ENSP00000375986:p.Glu359Asp		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E359D	ENST00000392142.4	37	c.1077	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501174	0.26861	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.96	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	L	0.33485	1.01	0.38245	D	0.941449	B;B	0.19200	0.027;0.034	B;B	0.17433	0.018;0.012	T	0.09773	-1.0659	10	0.18710	T	0.47	-38.1646	8.6249	0.33883	0.1353:0.1257:0.739:0.0	.	359;359	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	D	359	ENSP00000355886:E359D;ENSP00000375986:E359D;ENSP00000355887:E359D;ENSP00000297332:E359D	ENSP00000297332:E359D	E	+	3	2	MAP3K4	161390371	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.504000	0.53347	1.541000	0.49316	-0.142000	0.14014	GAG	MAP3K4	-	NULL	ENSG00000085511		0.458	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	-	0.00	91	0	G			161470381	+1	tier1	-	no_errors	ENST00000392142	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
MAPKAPK5	8550	genome.wustl.edu	37	12	112321523	112321523	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:112321523G>T	ENST00000551404.2	+	9	907	c.799G>T	c.(799-801)Gag>Tag	p.E267*	MAPKAPK5_ENST00000550735.2_Nonsense_Mutation_p.E267*			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.E267K(2)		endometrium(1)|lung(11)|ovary(1)	13						TGAGTTCCCAGAGGAAGAGTG	0.527																																																	2	Substitution - Missense(2)	lung(2)											121.0	117.0	118.0					12																	112321523		1985	4166	6151	SO:0001587	stop_gained	0			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.799G>T	12.37:g.112321523G>T	ENSP00000449381:p.Glu267*		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E267*	ENST00000551404.2	37	c.799	CCDS44975.1	12	.	.	.	.	.	.	.	.	.	.	G	43	10.452888	0.99408	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000553053;ENST00000551404	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.8525	18.9881	0.92780	0.0:0.0:1.0:0.0	.	.	.	.	X	267;267;267;34;267	.	ENSP00000202788:E267X	E	+	1	0	MAPKAPK5	110805906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.484000	0.83849	0.557000	0.71058	GAG	MAPKAPK5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000089022		0.527	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPKAPK5	HGNC	protein_coding	OTTHUMT00000405019.2		0.00	106	0	G	NM_139078		112321523	+1			no_errors	ENST00000551404	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	1.000	T
MARC2	54996	genome.wustl.edu	37	1	220953534	220953534	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:220953534A>G	ENST00000366913.3	+	6	1035	c.837A>G	c.(835-837)ccA>ccG	p.P279P	MARC2_ENST00000472447.1_3'UTR|MARC2_ENST00000359316.2_Intron	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	279	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CGGTGGACCCAGACACTGGAG	0.483																																																	0													169.0	175.0	173.0					1																	220953534		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"""MOCO sulphurase C-terminal domain containing 2"""	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.837A>G	1.37:g.220953534A>G			B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Silent	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom	p.P279	ENST00000366913.3	37	c.837	CCDS1525.1	1																																																																																			MARC2	-	pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom	ENSG00000117791		0.483	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARC2	HGNC	protein_coding	OTTHUMT00000090911.1		0.00	93	0	A	NM_017898		220953534	+1			no_errors	ENST00000366913	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.917	G
MBD6	114785	genome.wustl.edu	37	12	57920760	57920760	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:57920760T>G	ENST00000355673.3	+	7	2188	c.1832T>G	c.(1831-1833)cTt>cGt	p.L611R	MBD6_ENST00000431731.2_Missense_Mutation_p.L611R	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	611	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCAGACCTTCTTCCACCTCCT	0.637																																																	0													171.0	140.0	150.0					12																	57920760		2203	4300	6503	SO:0001583	missense	0			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1832T>G	12.37:g.57920760T>G	ENSP00000347896:p.Leu611Arg		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.L611R	ENST00000355673.3	37	c.1832	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606056	0.28623	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.76	3.52	0.40303	.	0.666448	0.12758	N	0.441631	T	0.22666	0.0547	N	0.08118	0	0.22684	N	0.998854	D;D	0.60160	0.987;0.965	P;P	0.52343	0.696;0.566	T	0.04522	-1.0945	9	0.87932	D	0	-7.0872	5.8328	0.18590	0.0:0.0906:0.1708:0.7386	.	611;611	Q6P0P0;Q96DN6	.;MBD6_HUMAN	R	611;611;75	.	ENSP00000300263:L75R	L	+	2	0	MBD6	56207027	0.945000	0.32115	0.995000	0.50966	0.996000	0.88848	2.885000	0.48570	1.925000	0.55765	0.459000	0.35465	CTT	MBD6	-	NULL	ENSG00000166987		0.637	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1		0.00	72	0	T			57920760	+1			no_errors	ENST00000355673	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.701	G
MCF2L2	23101	genome.wustl.edu	37	3	183097179	183097179	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:183097179C>T	ENST00000328913.3	-	3	478	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	MCF2L2_ENST00000447025.2_Missense_Mutation_p.A61T|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A61T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A61T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	61	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATGATGGGGGCGCCATCCTCC	0.512																																																	0													99.0	85.0	90.0					3																	183097179		2203	4300	6503	SO:0001583	missense	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.181G>A	3.37:g.183097179C>T	ENSP00000328118:p.Ala61Thr		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A61T	ENST00000328913.3	37	c.181	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966673	0.74131	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.19	5.19	0.71726	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	L	0.56769	1.78	0.35624	D	0.809706	D;D;D	0.89917	0.987;0.976;1.0	P;P;D	0.75484	0.474;0.674;0.986	T	0.82458	-0.0447	10	0.66056	D	0.02	.	17.8387	0.88709	0.0:1.0:0.0:0.0	.	61;61;61	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	T	61;61;61;61;33	ENSP00000328118:A61T;ENSP00000420070:A61T;ENSP00000388190:A61T;ENSP00000414131:A61T;ENSP00000417345:A33T	ENSP00000328118:A61T	A	-	1	0	MCF2L2	184579873	0.999000	0.42202	0.981000	0.43875	0.396000	0.30629	4.054000	0.57434	2.580000	0.87095	0.655000	0.94253	GCC	MCF2L2	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000053524		0.512	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	-	0.00	89	0	C	NM_015078		183097179	-1	tier1	-	no_errors	ENST00000328913	ensembl	human	known	74_37	missense	27.63	53	21	SNP	0.997	T
MCF2L2	23101	genome.wustl.edu	37	3	183097179	183097179	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:183097179C>T	ENST00000328913.3	-	3	478	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	MCF2L2_ENST00000447025.2_Missense_Mutation_p.A61T|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A61T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A61T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	61	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATGATGGGGGCGCCATCCTCC	0.512																																																	0													99.0	85.0	90.0					3																	183097179		2203	4300	6503	SO:0001583	missense	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.181G>A	3.37:g.183097179C>T	ENSP00000328118:p.Ala61Thr		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A61T	ENST00000328913.3	37	c.181	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966673	0.74131	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.19	5.19	0.71726	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	L	0.56769	1.78	0.35624	D	0.809706	D;D;D	0.89917	0.987;0.976;1.0	P;P;D	0.75484	0.474;0.674;0.986	T	0.82458	-0.0447	10	0.66056	D	0.02	.	17.8387	0.88709	0.0:1.0:0.0:0.0	.	61;61;61	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	T	61;61;61;61;33	ENSP00000328118:A61T;ENSP00000420070:A61T;ENSP00000388190:A61T;ENSP00000414131:A61T;ENSP00000417345:A33T	ENSP00000328118:A61T	A	-	1	0	MCF2L2	184579873	0.999000	0.42202	0.981000	0.43875	0.396000	0.30629	4.054000	0.57434	2.580000	0.87095	0.655000	0.94253	GCC	MCF2L2	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000053524		0.512	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	-	0.00	91	0	C	NM_015078		183097179	-1	tier1	-	no_errors	ENST00000328913	ensembl	human	known	74_37	missense	27.63	53	21	SNP	0.997	T
MCM4	4173	genome.wustl.edu	37	8	48882478	48882478	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:48882478T>G	ENST00000262105.2	+	10	1504	c.1295T>G	c.(1294-1296)cTt>cGt	p.L432R	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.L432R	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	432					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTGCATGGCCTTGATGAAGAA	0.413																																																	0													163.0	153.0	156.0					8																	48882478		2203	4300	6503	SO:0001583	missense	0				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1295T>G	8.37:g.48882478T>G	ENSP00000262105:p.Leu432Arg		Q8NEH1|Q99658	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.L432R	ENST00000262105.2	37	c.1295	CCDS6143.1	8	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808745	0.31961	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.08807	4.0;4.0;3.05	6.17	5.01	0.66863	.	0.188896	0.47455	D	0.000229	T	0.08891	0.0220	L	0.46157	1.445	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.12372	-1.0550	10	0.13108	T	0.6	-12.996	13.7445	0.62868	0.0:0.0:0.1283:0.8716	.	432;432	B3KMX0;P33991	.;MCM4_HUMAN	R	432;432;419;392;150	ENSP00000430194:L432R;ENSP00000262105:L432R;ENSP00000427875:L150R	ENSP00000262105:L432R	L	+	2	0	MCM4	49045031	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.805000	0.69143	1.137000	0.42214	0.533000	0.62120	CTT	MCM4	-	smart_MCM_DNA-dep_ATPase	ENSG00000104738		0.413	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	-	0.00	126	0	T	NM_005914		48882478	+1	tier1	-	no_errors	ENST00000262105	ensembl	human	known	74_37	missense	11.96	81	11	SNP	0.989	G
MCM4	4173	genome.wustl.edu	37	8	48882478	48882478	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:48882478T>G	ENST00000262105.2	+	10	1504	c.1295T>G	c.(1294-1296)cTt>cGt	p.L432R	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.L432R	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	432					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTGCATGGCCTTGATGAAGAA	0.413																																																	0													163.0	153.0	156.0					8																	48882478		2203	4300	6503	SO:0001583	missense	0				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1295T>G	8.37:g.48882478T>G	ENSP00000262105:p.Leu432Arg		Q8NEH1|Q99658	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.L432R	ENST00000262105.2	37	c.1295	CCDS6143.1	8	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808745	0.31961	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.08807	4.0;4.0;3.05	6.17	5.01	0.66863	.	0.188896	0.47455	D	0.000229	T	0.08891	0.0220	L	0.46157	1.445	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.12372	-1.0550	10	0.13108	T	0.6	-12.996	13.7445	0.62868	0.0:0.0:0.1283:0.8716	.	432;432	B3KMX0;P33991	.;MCM4_HUMAN	R	432;432;419;392;150	ENSP00000430194:L432R;ENSP00000262105:L432R;ENSP00000427875:L150R	ENSP00000262105:L432R	L	+	2	0	MCM4	49045031	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.805000	0.69143	1.137000	0.42214	0.533000	0.62120	CTT	MCM4	-	smart_MCM_DNA-dep_ATPase	ENSG00000104738		0.413	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	-	0.00	86	0	T	NM_005914		48882478	+1	tier1	-	no_errors	ENST00000262105	ensembl	human	known	74_37	missense	11.96	81	11	SNP	0.989	G
MECP2	4204	genome.wustl.edu	37	X	153296571	153296571	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:153296571C>A	ENST00000303391.6	-	4	957	c.708G>T	c.(706-708)ggG>ggT	p.G236G	MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Silent_p.G248G	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	236					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCCCACCCCCCTCAGCCT	0.602																																																	0													84.0	87.0	86.0					X																	153296571		2203	4300	6503	SO:0001819	synonymous_variant	0			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.708G>T	X.37:g.153296571C>A			O15233|Q6QHH9|Q7Z384	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.G236	ENST00000303391.6	37	c.708	CCDS14741.1	X																																																																																			MECP2	-	superfamily_Ig_E-set,pirsf_Me_CpG-bd_MeCP2	ENSG00000169057		0.602	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1	-	0.00	68	0	C	NM_004992		153296571	-1	tier1	-	no_errors	ENST00000303391	ensembl	human	known	74_37	silent	21.25	63	17	SNP	0.730	A
MECP2	4204	genome.wustl.edu	37	X	153296571	153296571	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:153296571C>A	ENST00000303391.6	-	4	957	c.708G>T	c.(706-708)ggG>ggT	p.G236G	MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Silent_p.G248G	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	236					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCCCACCCCCCTCAGCCT	0.602																																																	0													84.0	87.0	86.0					X																	153296571		2203	4300	6503	SO:0001819	synonymous_variant	0			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.708G>T	X.37:g.153296571C>A			O15233|Q6QHH9|Q7Z384	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.G236	ENST00000303391.6	37	c.708	CCDS14741.1	X																																																																																			MECP2	-	superfamily_Ig_E-set,pirsf_Me_CpG-bd_MeCP2	ENSG00000169057		0.602	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1	-	0.00	75	0	C	NM_004992		153296571	-1	tier1	-	no_errors	ENST00000303391	ensembl	human	known	74_37	silent	21.25	63	17	SNP	0.730	A
MED12L	116931	genome.wustl.edu	37	3	151082990	151082990	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:151082990G>A	ENST00000474524.1	+	20	3114	c.3076G>A	c.(3076-3078)Ggc>Agc	p.G1026S	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G886S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1026						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGGATGCTGGCAGGTGAGA	0.458																																																	0													117.0	106.0	110.0					3																	151082990		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3076G>A	3.37:g.151082990G>A	ENSP00000417235:p.Gly1026Ser		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.G1026S	ENST00000474524.1	37	c.3076	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963503	0.74016	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.28454	1.61;1.61	5.6	4.73	0.59995	.	0.107922	0.64402	D	0.000005	T	0.19644	0.0472	N	0.14661	0.345	0.80722	D	1	P;B;B	0.44521	0.837;0.0;0.001	B;B;B	0.38755	0.281;0.001;0.002	T	0.04115	-1.0976	10	0.51188	T	0.08	-13.8449	14.3491	0.66688	0.0721:0.0:0.9279:0.0	.	886;1025;1026	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	S	1026;886	ENSP00000417235:G1026S;ENSP00000273432:G886S	ENSP00000273432:G886S	G	+	1	0	MED12L	152565680	1.000000	0.71417	0.895000	0.35142	0.967000	0.64934	4.347000	0.59373	1.493000	0.48517	0.650000	0.86243	GGC	MED12L	-	NULL	ENSG00000144893		0.458	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0.00	30	0	G	NM_053002		151082990	+1			no_errors	ENST00000474524	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.996	A
MED14	9282	genome.wustl.edu	37	X	40523690	40523690	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:40523690G>A	ENST00000324817.1	-	25	3435	c.3317C>T	c.(3316-3318)gCa>gTa	p.A1106V		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1106	Pro-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGTTCCCTGCTCGTCCACT	0.478																																																	0													120.0	84.0	96.0					X																	40523690		2203	4300	6503	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3317C>T	X.37:g.40523690G>A	ENSP00000323720:p.Ala1106Val		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.A1106V	ENST00000324817.1	37	c.3317	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717773	0.48622	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	.	.	.	5.11	5.11	0.69529	.	0.067255	0.64402	D	0.000017	T	0.51160	0.1658	N	0.21282	0.65	0.45015	D	0.99803	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.46020	-0.9221	9	0.46703	T	0.11	.	17.7191	0.88345	0.0:0.0:1.0:0.0	.	1106;1106	A8KAK5;O60244	.;MED14_HUMAN	V	1106;5	.	ENSP00000323720:A1106V	A	-	2	0	MED14	40408634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.882000	0.63121	2.113000	0.64589	0.600000	0.82982	GCA	MED14	-	NULL	ENSG00000180182		0.478	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	-	0.00	36	0	G	NM_004229		40523690	-1	tier1	-	no_errors	ENST00000324817	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	A
MEI1	150365	genome.wustl.edu	37	22	42180705	42180705	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:42180705C>A	ENST00000401548.3	+	26	3303	c.3263C>A	c.(3262-3264)gCc>gAc	p.A1088D	MEI1_ENST00000300398.4_Missense_Mutation_p.A96D|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.A421D	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCACTGCCAGCCACCAAGGAC	0.612																																																	0													32.0	34.0	34.0					22																	42180705		1998	4177	6175	SO:0001583	missense	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3263C>A	22.37:g.42180705C>A	ENSP00000384115:p.Ala1088Asp			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A1088D	ENST00000401548.3	37	c.3263	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525612	0.27299	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000300398;ENST00000419798;ENST00000403492	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.45	1.9	0.25705	.	1.024520	0.07738	N	0.946339	T	0.65375	0.2685	L	0.44542	1.39	0.09310	N	1	P;B;P;B;B;P	0.49090	0.919;0.435;0.904;0.002;0.004;0.919	P;B;P;B;B;P	0.49887	0.463;0.215;0.625;0.003;0.004;0.491	T	0.53380	-0.8447	10	0.48119	T	0.1	-18.0097	7.6693	0.28449	0.3346:0.5032:0.1621:0.0	.	102;421;198;331;456;1088	B7Z735;Q5TIA1-3;E9PB79;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;.;.;MEI1_HUMAN	D	1088;421;96;198;96	ENSP00000384115:A1088D;ENSP00000382978:A421D;ENSP00000300398:A96D;ENSP00000385298:A96D	ENSP00000300398:A96D	A	+	2	0	MEI1	40510651	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.029000	0.12329	0.642000	0.30620	-0.182000	0.12963	GCC	MEI1	-	NULL	ENSG00000167077		0.612	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	-	0.00	60	0	C	NM_152513		42180705	+1	tier1	-	no_errors	ENST00000401548	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.001	A
MEI1	150365	genome.wustl.edu	37	22	42180705	42180705	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:42180705C>A	ENST00000401548.3	+	26	3303	c.3263C>A	c.(3262-3264)gCc>gAc	p.A1088D	MEI1_ENST00000300398.4_Missense_Mutation_p.A96D|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.A421D	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCACTGCCAGCCACCAAGGAC	0.612																																																	0													32.0	34.0	34.0					22																	42180705		1998	4177	6175	SO:0001583	missense	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3263C>A	22.37:g.42180705C>A	ENSP00000384115:p.Ala1088Asp			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A1088D	ENST00000401548.3	37	c.3263	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525612	0.27299	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000300398;ENST00000419798;ENST00000403492	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.45	1.9	0.25705	.	1.024520	0.07738	N	0.946339	T	0.65375	0.2685	L	0.44542	1.39	0.09310	N	1	P;B;P;B;B;P	0.49090	0.919;0.435;0.904;0.002;0.004;0.919	P;B;P;B;B;P	0.49887	0.463;0.215;0.625;0.003;0.004;0.491	T	0.53380	-0.8447	10	0.48119	T	0.1	-18.0097	7.6693	0.28449	0.3346:0.5032:0.1621:0.0	.	102;421;198;331;456;1088	B7Z735;Q5TIA1-3;E9PB79;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;.;.;MEI1_HUMAN	D	1088;421;96;198;96	ENSP00000384115:A1088D;ENSP00000382978:A421D;ENSP00000300398:A96D;ENSP00000385298:A96D	ENSP00000300398:A96D	A	+	2	0	MEI1	40510651	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.029000	0.12329	0.642000	0.30620	-0.182000	0.12963	GCC	MEI1	-	NULL	ENSG00000167077		0.612	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	-	0.00	72	0	C	NM_152513		42180705	+1	tier1	-	no_errors	ENST00000401548	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.001	A
MET	4233	genome.wustl.edu	37	7	116422132	116422132	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:116422132T>C	ENST00000318493.6	+	18	3854	c.3667T>C	c.(3667-3669)Ttg>Ctg	p.L1223L	MET_ENST00000397752.3_Silent_p.L1205L|MET_ENST00000539704.1_Silent_p.L75L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L1223V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCACAGAGACTTGGCTGCAAG	0.393			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)											52.0	51.0	51.0					7																	116422132		1849	4100	5949	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3667T>C	7.37:g.116422132T>C			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.L1223	ENST00000318493.6	37	c.3667	CCDS47689.1	7																																																																																			MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105976		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	-	0.00	29	0	T			116422132	+1	tier1	-	no_errors	ENST00000318493	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	C
MET	4233	genome.wustl.edu	37	7	116422132	116422132	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:116422132T>C	ENST00000318493.6	+	18	3854	c.3667T>C	c.(3667-3669)Ttg>Ctg	p.L1223L	MET_ENST00000397752.3_Silent_p.L1205L|MET_ENST00000539704.1_Silent_p.L75L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L1223V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCACAGAGACTTGGCTGCAAG	0.393			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)											52.0	51.0	51.0					7																	116422132		1849	4100	5949	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3667T>C	7.37:g.116422132T>C			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.L1223	ENST00000318493.6	37	c.3667	CCDS47689.1	7																																																																																			MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105976		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	-	0.00	46	0	T			116422132	+1	tier1	-	no_errors	ENST00000318493	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	C
METTL13	51603	genome.wustl.edu	37	1	171763613	171763613	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:171763613G>T	ENST00000361735.3	+	7	2037	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S	METTL13_ENST00000362019.3_Missense_Mutation_p.A505S|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Missense_Mutation_p.A435S|METTL13_ENST00000458517.1_Missense_Mutation_p.A590S	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	591							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCCGCCCCCAGCATTTGTGGA	0.463																																																	0													88.0	79.0	82.0					1																	171763613		2203	4300	6503	SO:0001583	missense	0			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1771G>T	1.37:g.171763613G>T	ENSP00000354920:p.Ala591Ser		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.A591S	ENST00000361735.3	37	c.1771	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245644	0.80024	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.31294	0.92	0.80722	D	1	B;D;P	0.61697	0.012;0.99;0.587	B;P;B	0.56648	0.049;0.803;0.336	T	0.65861	-0.6065	10	0.09338	T	0.73	-37.8524	19.7484	0.96259	0.0:0.0:1.0:0.0	.	590;435;591	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	S	590;505;435;591;291;288	ENSP00000401955:A590S;ENSP00000355393:A505S;ENSP00000356711:A435S;ENSP00000354920:A591S;ENSP00000356710:A291S	ENSP00000341732:A288S	A	+	1	0	METTL13	170030236	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	9.126000	0.94411	2.758000	0.94735	0.655000	0.94253	GCA	METTL13	-	pfam_Spermidine/spermine_synthase	ENSG00000010165		0.463	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	-	0.00	75	0	G	NM_014955		171763613	+1	tier1	-	no_errors	ENST00000361735	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
METTL13	51603	genome.wustl.edu	37	1	171763613	171763613	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:171763613G>T	ENST00000361735.3	+	7	2037	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S	METTL13_ENST00000362019.3_Missense_Mutation_p.A505S|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Missense_Mutation_p.A435S|METTL13_ENST00000458517.1_Missense_Mutation_p.A590S	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	591							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCCGCCCCCAGCATTTGTGGA	0.463																																																	0													88.0	79.0	82.0					1																	171763613		2203	4300	6503	SO:0001583	missense	0			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1771G>T	1.37:g.171763613G>T	ENSP00000354920:p.Ala591Ser		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.A591S	ENST00000361735.3	37	c.1771	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245644	0.80024	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.31294	0.92	0.80722	D	1	B;D;P	0.61697	0.012;0.99;0.587	B;P;B	0.56648	0.049;0.803;0.336	T	0.65861	-0.6065	10	0.09338	T	0.73	-37.8524	19.7484	0.96259	0.0:0.0:1.0:0.0	.	590;435;591	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	S	590;505;435;591;291;288	ENSP00000401955:A590S;ENSP00000355393:A505S;ENSP00000356711:A435S;ENSP00000354920:A591S;ENSP00000356710:A291S	ENSP00000341732:A288S	A	+	1	0	METTL13	170030236	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	9.126000	0.94411	2.758000	0.94735	0.655000	0.94253	GCA	METTL13	-	pfam_Spermidine/spermine_synthase	ENSG00000010165		0.463	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	-	0.00	80	0	G	NM_014955		171763613	+1	tier1	-	no_errors	ENST00000361735	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
MFI2	4241	genome.wustl.edu	37	3	196753571	196753571	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:196753571C>T	ENST00000296350.5	-	3	377	c.264G>A	c.(262-264)gaG>gaA	p.E88E	MFI2_ENST00000296351.4_Silent_p.E88E	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	88	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TCAGGCCGTGCTCCTTTCCCG	0.622																																																	0													99.0	83.0	89.0					3																	196753571		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.264G>A	3.37:g.196753571C>T			Q9BQE2	Silent	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.E88	ENST00000296350.5	37	c.264	CCDS3325.1	3																																																																																			MFI2	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000163975		0.622	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	-	0.00	44	0	C			196753571	-1	tier1	-	no_errors	ENST00000296350	ensembl	human	known	74_37	silent	29.03	22	9	SNP	0.012	T
MFI2	4241	genome.wustl.edu	37	3	196753571	196753571	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:196753571C>T	ENST00000296350.5	-	3	377	c.264G>A	c.(262-264)gaG>gaA	p.E88E	MFI2_ENST00000296351.4_Silent_p.E88E	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	88	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TCAGGCCGTGCTCCTTTCCCG	0.622																																																	0													99.0	83.0	89.0					3																	196753571		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.264G>A	3.37:g.196753571C>T			Q9BQE2	Silent	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.E88	ENST00000296350.5	37	c.264	CCDS3325.1	3																																																																																			MFI2	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000163975		0.622	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	-	0.00	62	0	C			196753571	-1	tier1	-	no_errors	ENST00000296350	ensembl	human	known	74_37	silent	29.03	22	9	SNP	0.012	T
MFSD8	256471	genome.wustl.edu	37	4	128886250	128886250	+	Silent	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:128886250G>C	ENST00000296468.3	-	2	166	c.39C>G	c.(37-39)ctC>ctG	p.L13L	C4orf29_ENST00000444616.1_5'Flank|MFSD8_ENST00000513559.1_Intron|C4orf29_ENST00000398965.1_5'Flank|MFSD8_ENST00000541133.1_Intron|C4orf29_ENST00000388795.5_5'Flank|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	13					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.L13L(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TGTCGCCTAAGAGCGGCTCCT	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											67.0	61.0	63.0					4																	128886250		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.39C>G	4.37:g.128886250G>C			B2RDM1|B7Z205|Q8N2P3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L13	ENST00000296468.3	37	c.39	CCDS3736.1	4																																																																																			MFSD8	-	NULL	ENSG00000164073		0.622	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	-	0.00	118	0	G	NM_152778		128886250	-1	tier1	-	no_errors	ENST00000296468	ensembl	human	known	74_37	silent	7.69	60	5	SNP	0.007	C
MFSD8	256471	genome.wustl.edu	37	4	128886250	128886250	+	Silent	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:128886250G>C	ENST00000296468.3	-	2	166	c.39C>G	c.(37-39)ctC>ctG	p.L13L	C4orf29_ENST00000444616.1_5'Flank|MFSD8_ENST00000513559.1_Intron|C4orf29_ENST00000398965.1_5'Flank|MFSD8_ENST00000541133.1_Intron|C4orf29_ENST00000388795.5_5'Flank|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	13					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.L13L(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TGTCGCCTAAGAGCGGCTCCT	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											67.0	61.0	63.0					4																	128886250		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.39C>G	4.37:g.128886250G>C			B2RDM1|B7Z205|Q8N2P3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L13	ENST00000296468.3	37	c.39	CCDS3736.1	4																																																																																			MFSD8	-	NULL	ENSG00000164073		0.622	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	-	0.00	127	0	G	NM_152778		128886250	-1	tier1	-	no_errors	ENST00000296468	ensembl	human	known	74_37	silent	7.69	60	5	SNP	0.007	C
MIA3	375056	genome.wustl.edu	37	1	222803001	222803001	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:222803001A>C	ENST00000344922.5	+	4	2464	c.2439A>C	c.(2437-2439)gaA>gaC	p.E813D	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E813D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	813					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGGAAAAAGAACGCCCTCTGG	0.418																																																	0													47.0	46.0	46.0					1																	222803001		1881	4100	5981	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2439A>C	1.37:g.222803001A>C	ENSP00000340900:p.Glu813Asp		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E813D	ENST00000344922.5	37	c.2439	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.80|13.80	2.344081|2.344081	0.41498|0.41498	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05925|.	3.37;3.37|.	5.08|5.08	-3.07|-3.07	0.05363|0.05363	.|.	.|.	.|.	.|.	.|.	T|T	0.40145|0.40145	0.1105|0.1105	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	B;B|.	0.29716|.	0.192;0.255|.	B;B|.	0.26614|.	0.063;0.071|.	T|T	0.45026|0.45026	-0.9289|-0.9289	9|5	0.48119|.	T|.	0.1|.	.|.	8.8838|8.8838	0.35392|0.35392	0.4289:0.1131:0.458:0.0|0.4289:0.1131:0.458:0.0	.|.	813;813|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	D|P	813|396	ENSP00000340900:E813D;ENSP00000340587:E813D|.	ENSP00000325973:E813D|.	E|T	+|+	3|1	2|0	MIA3|MIA3	220869624|220869624	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	0.096000|0.096000	0.15147|0.15147	-0.496000|-0.496000	0.06650|0.06650	0.379000|0.379000	0.24179|0.24179	GAA|ACG	MIA3	-	NULL	ENSG00000154305		0.418	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	-	0.00	54	0	A	NM_198551		222803001	+1	tier1	-	no_errors	ENST00000344441	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.000	C
MIA3	375056	genome.wustl.edu	37	1	222803001	222803001	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:222803001A>C	ENST00000344922.5	+	4	2464	c.2439A>C	c.(2437-2439)gaA>gaC	p.E813D	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E813D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	813					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGGAAAAAGAACGCCCTCTGG	0.418																																																	0													47.0	46.0	46.0					1																	222803001		1881	4100	5981	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2439A>C	1.37:g.222803001A>C	ENSP00000340900:p.Glu813Asp		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E813D	ENST00000344922.5	37	c.2439	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.80|13.80	2.344081|2.344081	0.41498|0.41498	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05925|.	3.37;3.37|.	5.08|5.08	-3.07|-3.07	0.05363|0.05363	.|.	.|.	.|.	.|.	.|.	T|T	0.40145|0.40145	0.1105|0.1105	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	B;B|.	0.29716|.	0.192;0.255|.	B;B|.	0.26614|.	0.063;0.071|.	T|T	0.45026|0.45026	-0.9289|-0.9289	9|5	0.48119|.	T|.	0.1|.	.|.	8.8838|8.8838	0.35392|0.35392	0.4289:0.1131:0.458:0.0|0.4289:0.1131:0.458:0.0	.|.	813;813|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	D|P	813|396	ENSP00000340900:E813D;ENSP00000340587:E813D|.	ENSP00000325973:E813D|.	E|T	+|+	3|1	2|0	MIA3|MIA3	220869624|220869624	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	0.096000|0.096000	0.15147|0.15147	-0.496000|-0.496000	0.06650|0.06650	0.379000|0.379000	0.24179|0.24179	GAA|ACG	MIA3	-	NULL	ENSG00000154305		0.418	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	-	0.00	62	0	A	NM_198551		222803001	+1	tier1	-	no_errors	ENST00000344441	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.000	C
MICAL2	9645	genome.wustl.edu	37	11	12247834	12247834	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:12247834C>T	ENST00000256194.4	+	14	2093	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	MICAL2_ENST00000342902.5_Missense_Mutation_p.A602V|MICAL2_ENST00000527546.1_Missense_Mutation_p.A602V|MICAL2_ENST00000379612.3_Missense_Mutation_p.A602V|MICAL2_ENST00000537344.1_Missense_Mutation_p.A602V	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	602	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATGGCATCTGCCCAGGAGCCT	0.567																																																	0													131.0	115.0	120.0					11																	12247834		2201	4294	6495	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1805C>T	11.37:g.12247834C>T	ENSP00000256194:p.Ala602Val		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.A602V	ENST00000256194.4	37	c.1805	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	C	3.047	-0.196314	0.06259	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.43	5.28	3.37	0.38596	Calponin homology domain (5);	0.551375	0.18806	N	0.130657	T	0.19366	0.0465	N	0.01257	-0.925	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.003;0.001	T	0.26224	-1.0109	10	0.02654	T	1	.	10.1473	0.42771	0.0:0.7874:0.1377:0.0749	.	135;602;602;602;602;602	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	V	602;135;602;602;602;602	ENSP00000441689:A602V;ENSP00000256194:A602V;ENSP00000433965:A602V;ENSP00000344894:A602V;ENSP00000368932:A602V	ENSP00000256194:A602V	A	+	2	0	MICAL2	12204410	0.000000	0.05858	0.258000	0.24420	0.353000	0.29299	0.237000	0.17985	0.587000	0.29643	0.563000	0.77884	GCC	MICAL2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000133816		0.567	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	-	0.00	53	0	C	NM_014632		12247834	+1	tier1	-	no_errors	ENST00000256194	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.023	T
MICAL2	9645	genome.wustl.edu	37	11	12247834	12247834	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:12247834C>T	ENST00000256194.4	+	14	2093	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	MICAL2_ENST00000342902.5_Missense_Mutation_p.A602V|MICAL2_ENST00000527546.1_Missense_Mutation_p.A602V|MICAL2_ENST00000379612.3_Missense_Mutation_p.A602V|MICAL2_ENST00000537344.1_Missense_Mutation_p.A602V	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	602	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATGGCATCTGCCCAGGAGCCT	0.567																																																	0													131.0	115.0	120.0					11																	12247834		2201	4294	6495	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1805C>T	11.37:g.12247834C>T	ENSP00000256194:p.Ala602Val		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.A602V	ENST00000256194.4	37	c.1805	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	C	3.047	-0.196314	0.06259	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.43	5.28	3.37	0.38596	Calponin homology domain (5);	0.551375	0.18806	N	0.130657	T	0.19366	0.0465	N	0.01257	-0.925	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.003;0.001	T	0.26224	-1.0109	10	0.02654	T	1	.	10.1473	0.42771	0.0:0.7874:0.1377:0.0749	.	135;602;602;602;602;602	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	V	602;135;602;602;602;602	ENSP00000441689:A602V;ENSP00000256194:A602V;ENSP00000433965:A602V;ENSP00000344894:A602V;ENSP00000368932:A602V	ENSP00000256194:A602V	A	+	2	0	MICAL2	12204410	0.000000	0.05858	0.258000	0.24420	0.353000	0.29299	0.237000	0.17985	0.587000	0.29643	0.563000	0.77884	GCC	MICAL2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000133816		0.567	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	-	0.00	73	0	C	NM_014632		12247834	+1	tier1	-	no_errors	ENST00000256194	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.023	T
MIER2	54531	genome.wustl.edu	37	19	308609	308609	+	Missense_Mutation	SNP	G	G	A	rs375980005		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:308609G>A	ENST00000264819.4	-	12	1176	c.1166C>T	c.(1165-1167)cCg>cTg	p.P389L	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTGCTCCGGGCGCGGACG	0.711																																																	0								G	LEU/PRO	0,4400		0,0,2200	17.0	25.0	22.0		1166	2.2	0.0	19		22	1,8585		0,1,4292	no	missense	MIER2	NM_017550.1	98	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	benign	389/546	308609	1,12985	2200	4293	6493	SO:0001583	missense	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1166C>T	19.37:g.308609G>A	ENSP00000264819:p.Pro389Leu		Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.P389L	ENST00000264819.4	37	c.1166	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593417	0.28357	0.0	1.16E-4	ENSG00000105556	ENST00000264819	T	0.15256	2.44	2.22	2.22	0.28083	.	2.486670	0.02842	U	0.128060	T	0.10937	0.0267	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.20184	0.028	T	0.18053	-1.0349	10	0.56958	D	0.05	.	8.0133	0.30365	0.0:0.0:1.0:0.0	.	389	Q8N344	MIER2_HUMAN	L	389	ENSP00000264819:P389L	ENSP00000264819:P389L	P	-	2	0	MIER2	259609	0.014000	0.17966	0.010000	0.14722	0.214000	0.24535	1.286000	0.33273	1.541000	0.49316	0.462000	0.41574	CCG	MIER2	-	NULL	ENSG00000105556		0.711	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	-	0.00	130	0	G	XM_041843		308609	-1	tier1	-	no_errors	ENST00000264819	ensembl	human	known	74_37	missense	5.75	82	5	SNP	0.020	A
MIER2	54531	genome.wustl.edu	37	19	308609	308609	+	Missense_Mutation	SNP	G	G	A	rs375980005		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:308609G>A	ENST00000264819.4	-	12	1176	c.1166C>T	c.(1165-1167)cCg>cTg	p.P389L	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTGCTCCGGGCGCGGACG	0.711																																																	0								G	LEU/PRO	0,4400		0,0,2200	17.0	25.0	22.0		1166	2.2	0.0	19		22	1,8585		0,1,4292	no	missense	MIER2	NM_017550.1	98	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	benign	389/546	308609	1,12985	2200	4293	6493	SO:0001583	missense	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1166C>T	19.37:g.308609G>A	ENSP00000264819:p.Pro389Leu		Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.P389L	ENST00000264819.4	37	c.1166	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593417	0.28357	0.0	1.16E-4	ENSG00000105556	ENST00000264819	T	0.15256	2.44	2.22	2.22	0.28083	.	2.486670	0.02842	U	0.128060	T	0.10937	0.0267	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.20184	0.028	T	0.18053	-1.0349	10	0.56958	D	0.05	.	8.0133	0.30365	0.0:0.0:1.0:0.0	.	389	Q8N344	MIER2_HUMAN	L	389	ENSP00000264819:P389L	ENSP00000264819:P389L	P	-	2	0	MIER2	259609	0.014000	0.17966	0.010000	0.14722	0.214000	0.24535	1.286000	0.33273	1.541000	0.49316	0.462000	0.41574	CCG	MIER2	-	NULL	ENSG00000105556		0.711	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	-	0.00	141	0	G	XM_041843		308609	-1	tier1	-	no_errors	ENST00000264819	ensembl	human	known	74_37	missense	5.75	82	5	SNP	0.020	A
MIR516A1	574498	genome.wustl.edu	37	19	54259997	54259997	+	RNA	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:54259997T>C	ENST00000385033.1	+	0	3				MIR527_ENST00000385244.1_RNA|MIR1283-2_ENST00000408621.1_RNA|AC011453.1_ENST00000583623.1_RNA	NR_030220.1				microRNA 516a-1																		GAGCAAGATCTCAGGCTGTGA	0.413																																																	0													167.0	155.0	158.0					19																	54259997		1568	3582	5150			0					19q13.42	2011-09-12	2007-10-23	2008-12-18	ENSG00000207767	ENSG00000207767		"""ncRNAs / Micro RNAs"""	32130	non-coding RNA	RNA, micro			"""microRNA 516-1"""	MIRN516-1, MIRN516A1			Standard	NR_030220		Approved	hsa-mir-516-1, hsa-mir-516a-1	uc021vaw.1				19.37:g.54259997T>C				RNA	SNP	-	NULL	ENST00000385033.1	37	NULL		19																																																																																			MIR516A1	-	-	ENSG00000207767		0.413	MIR516A1-201	KNOWN	basic	miRNA	MIR516A1	HGNC	miRNA		-	0.00	116	0	T	NR_030220		54259997	+1	tier1	-	no_errors	ENST00000385033	ensembl	human	known	74_37	rna	33.71	59	30	SNP	0.149	C
MIR516A1	574498	genome.wustl.edu	37	19	54259997	54259997	+	RNA	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:54259997T>C	ENST00000385033.1	+	0	3				MIR527_ENST00000385244.1_RNA|MIR1283-2_ENST00000408621.1_RNA|AC011453.1_ENST00000583623.1_RNA	NR_030220.1				microRNA 516a-1																		GAGCAAGATCTCAGGCTGTGA	0.413																																																	0													167.0	155.0	158.0					19																	54259997		1568	3582	5150			0					19q13.42	2011-09-12	2007-10-23	2008-12-18	ENSG00000207767	ENSG00000207767		"""ncRNAs / Micro RNAs"""	32130	non-coding RNA	RNA, micro			"""microRNA 516-1"""	MIRN516-1, MIRN516A1			Standard	NR_030220		Approved	hsa-mir-516-1, hsa-mir-516a-1	uc021vaw.1				19.37:g.54259997T>C				RNA	SNP	-	NULL	ENST00000385033.1	37	NULL		19																																																																																			MIR516A1	-	-	ENSG00000207767		0.413	MIR516A1-201	KNOWN	basic	miRNA	MIR516A1	HGNC	miRNA		-	0.00	150	0	T	NR_030220		54259997	+1	tier1	-	no_errors	ENST00000385033	ensembl	human	known	74_37	rna	33.71	59	30	SNP	0.149	C
MIR548XHG	101927797	genome.wustl.edu	37	21	20058469	20058469	+	lincRNA	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:20058469T>G	ENST00000437492.1	-	0	332				MIR548X_ENST00000580069.1_RNA																							ctgcaattacttttgcactaa	0.299																																																	0																																												0																															21.37:g.20058469T>G				RNA	SNP	-	NULL	ENST00000437492.1	37	NULL		21																																																																																			MIR548X	-	-	ENSG00000265841		0.299	AL109763.2-001	KNOWN	basic	lincRNA	MIR548X	HGNC	lincRNA	OTTHUMT00000158276.1	-	0.00	40	0	T			20058469	-1	tier1	-	no_errors	ENST00000580069	ensembl	human	known	74_37	rna	30.88	47	21	SNP	0.014	G
MIR548XHG	101927797	genome.wustl.edu	37	21	20058469	20058469	+	lincRNA	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:20058469T>G	ENST00000437492.1	-	0	332				MIR548X_ENST00000580069.1_RNA																							ctgcaattacttttgcactaa	0.299																																																	0																																												0																															21.37:g.20058469T>G				RNA	SNP	-	NULL	ENST00000437492.1	37	NULL		21																																																																																			MIR548X	-	-	ENSG00000265841		0.299	AL109763.2-001	KNOWN	basic	lincRNA	MIR548X	HGNC	lincRNA	OTTHUMT00000158276.1	-	0.00	52	0	T			20058469	-1	tier1	-	no_errors	ENST00000580069	ensembl	human	known	74_37	rna	30.88	47	21	SNP	0.014	G
MLF1	4291	genome.wustl.edu	37	3	158288991	158288991	+	5'UTR	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:158288991C>T	ENST00000355893.5	+	0	40				MLF1_ENST00000478894.2_5'Flank|MLF1_ENST00000471745.1_5'UTR|RP11-538P18.2_ENST00000475981.1_RNA|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_5'UTR|MLF1_ENST00000392822.3_5'Flank|MLF1_ENST00000469452.1_5'UTR|RP11-538P18.2_ENST00000479233.1_RNA|MLF1_ENST00000482628.1_5'Flank|MLF1_ENST00000359117.5_5'UTR	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1						cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GCGAGTGAGGCGTCGTCCGTA	0.632			T	NPM1	AML																																			Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	0																																										SO:0001623	5_prime_UTR_variant	0			L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.-99C>T	3.37:g.158288991C>T			E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	RNA	SNP	-	NULL	ENST00000355893.5	37	NULL	CCDS3182.1	3																																																																																			MLF1	-	-	ENSG00000178053		0.632	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF1	HGNC	protein_coding	OTTHUMT00000352164.3	-	0.00	38	0	C	NM_022443		158288991	+1	tier1	-	no_errors	ENST00000497004	ensembl	human	known	74_37	rna	12.20	35	5	SNP	0.617	T
MMRN2	79812	genome.wustl.edu	37	10	88717281	88717281	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:88717281C>T	ENST00000372027.5	-	1	339	c.18G>A	c.(16-18)ctG>ctA	p.L6L	SNCG_ENST00000372017.3_5'Flank|SNCG_ENST00000348795.4_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	6					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CAAGGCTGAACAGCAAGCTCA	0.597																																																	0													48.0	57.0	54.0					10																	88717281		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.18G>A	10.37:g.88717281C>T			Q504V7|Q6P2N2	Silent	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.L6	ENST00000372027.5	37	c.18	CCDS7379.1	10																																																																																			MMRN2	-	NULL	ENSG00000173269		0.597	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2	-	0.00	36	0	C	NM_024756		88717281	-1	tier1	-	no_errors	ENST00000372027	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.532	T
MMRN2	79812	genome.wustl.edu	37	10	88717281	88717281	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:88717281C>T	ENST00000372027.5	-	1	339	c.18G>A	c.(16-18)ctG>ctA	p.L6L	SNCG_ENST00000372017.3_5'Flank|SNCG_ENST00000348795.4_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	6					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CAAGGCTGAACAGCAAGCTCA	0.597																																																	0													48.0	57.0	54.0					10																	88717281		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.18G>A	10.37:g.88717281C>T			Q504V7|Q6P2N2	Silent	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.L6	ENST00000372027.5	37	c.18	CCDS7379.1	10																																																																																			MMRN2	-	NULL	ENSG00000173269		0.597	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2	-	0.00	42	0	C	NM_024756		88717281	-1	tier1	-	no_errors	ENST00000372027	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.532	T
MMS19	64210	genome.wustl.edu	37	10	99225566	99225566	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:99225566G>T	ENST00000438925.2	-	18	2087	c.1752C>A	c.(1750-1752)aaC>aaA	p.N584K	MMS19_ENST00000370782.2_Missense_Mutation_p.N584K|MMS19_ENST00000327238.10_Missense_Mutation_p.N486K|MMS19_ENST00000327277.7_Missense_Mutation_p.N220K|MMS19_ENST00000355839.6_Missense_Mutation_p.N541K	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	584					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGTTACCTCTGTTCACTTGCC	0.498								Direct reversal of damage																																									0													148.0	140.0	143.0					10																	99225566		2203	4300	6503	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.1752C>A	10.37:g.99225566G>T	ENSP00000412698:p.Asn584Lys		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_C,superfamily_ARM-type_fold	p.N584K	ENST00000438925.2	37	c.1752	CCDS7464.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.55|12.55	1.972373|1.972373	0.34848|0.34848	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000327277;ENST00000327253;ENST00000355839|ENST00000434538	T;T;T;T;T|.	0.66099|.	-0.1;-0.1;-0.19;-0.1;-0.1|.	5.0|5.0	3.13|3.13	0.36017|0.36017	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.203799|.	0.50627|.	D|.	0.000108|.	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.51422|0.51422	1.61|1.61	0.26464|0.26464	N|N	0.975397|0.975397	B;P;B;B;B|.	0.34800|.	0.018;0.469;0.089;0.018;0.031|.	B;B;B;B;B|.	0.30572|.	0.013;0.117;0.046;0.013;0.013|.	T|T	0.26503|0.26503	-1.0101|-1.0101	10|5	0.06099|.	T|.	0.92|.	.|.	6.9063|6.9063	0.24311|0.24311	0.173:0.1925:0.6344:0.0|0.173:0.1925:0.6344:0.0	.|.	605;486;541;584;541|.	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3|.	.;.;.;MMS19_HUMAN;.|.	K|K	584;584;486;563;220;169;541|159	ENSP00000412698:N584K;ENSP00000359818:N584K;ENSP00000320059:N486K;ENSP00000322236:N220K;ENSP00000348097:N541K|.	ENSP00000320059:N486K|.	N|T	-|-	3|2	2|0	MMS19|MMS19	99215556|99215556	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.763000|0.763000	0.43281|0.43281	1.853000|1.853000	0.39358|0.39358	1.099000|1.099000	0.41499|0.41499	0.561000|0.561000	0.74099|0.74099	AAC|ACA	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.498	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	-	0.00	47	0	G			99225566	-1	tier1	-	no_errors	ENST00000370782	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
MMS19	64210	genome.wustl.edu	37	10	99225566	99225566	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:99225566G>T	ENST00000438925.2	-	18	2087	c.1752C>A	c.(1750-1752)aaC>aaA	p.N584K	MMS19_ENST00000370782.2_Missense_Mutation_p.N584K|MMS19_ENST00000327238.10_Missense_Mutation_p.N486K|MMS19_ENST00000327277.7_Missense_Mutation_p.N220K|MMS19_ENST00000355839.6_Missense_Mutation_p.N541K	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	584					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGTTACCTCTGTTCACTTGCC	0.498								Direct reversal of damage																																									0													148.0	140.0	143.0					10																	99225566		2203	4300	6503	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.1752C>A	10.37:g.99225566G>T	ENSP00000412698:p.Asn584Lys		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_C,superfamily_ARM-type_fold	p.N584K	ENST00000438925.2	37	c.1752	CCDS7464.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.55|12.55	1.972373|1.972373	0.34848|0.34848	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000327277;ENST00000327253;ENST00000355839|ENST00000434538	T;T;T;T;T|.	0.66099|.	-0.1;-0.1;-0.19;-0.1;-0.1|.	5.0|5.0	3.13|3.13	0.36017|0.36017	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.203799|.	0.50627|.	D|.	0.000108|.	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.51422|0.51422	1.61|1.61	0.26464|0.26464	N|N	0.975397|0.975397	B;P;B;B;B|.	0.34800|.	0.018;0.469;0.089;0.018;0.031|.	B;B;B;B;B|.	0.30572|.	0.013;0.117;0.046;0.013;0.013|.	T|T	0.26503|0.26503	-1.0101|-1.0101	10|5	0.06099|.	T|.	0.92|.	.|.	6.9063|6.9063	0.24311|0.24311	0.173:0.1925:0.6344:0.0|0.173:0.1925:0.6344:0.0	.|.	605;486;541;584;541|.	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3|.	.;.;.;MMS19_HUMAN;.|.	K|K	584;584;486;563;220;169;541|159	ENSP00000412698:N584K;ENSP00000359818:N584K;ENSP00000320059:N486K;ENSP00000322236:N220K;ENSP00000348097:N541K|.	ENSP00000320059:N486K|.	N|T	-|-	3|2	2|0	MMS19|MMS19	99215556|99215556	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.763000|0.763000	0.43281|0.43281	1.853000|1.853000	0.39358|0.39358	1.099000|1.099000	0.41499|0.41499	0.561000|0.561000	0.74099|0.74099	AAC|ACA	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.498	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	-	0.00	55	0	G			99225566	-1	tier1	-	no_errors	ENST00000370782	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
MMS19	64210	genome.wustl.edu	37	10	99225902	99225902	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:99225902A>T	ENST00000438925.2	-	17	1855	c.1520T>A	c.(1519-1521)cTg>cAg	p.L507Q	MMS19_ENST00000370782.2_Missense_Mutation_p.L507Q|MMS19_ENST00000327238.10_Missense_Mutation_p.L409Q|MMS19_ENST00000327277.7_Missense_Mutation_p.L143Q|MMS19_ENST00000355839.6_Missense_Mutation_p.L464Q	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	507					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		TGATGCTTCCAGTGCTGCCAC	0.572								Direct reversal of damage																																									0													32.0	29.0	30.0					10																	99225902		2199	4287	6486	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.1520T>A	10.37:g.99225902A>T	ENSP00000412698:p.Leu507Gln		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_C,superfamily_ARM-type_fold	p.L507Q	ENST00000438925.2	37	c.1520	CCDS7464.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.66|16.66	3.185709|3.185709	0.57909|0.57909	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000327277;ENST00000327253;ENST00000355839|ENST00000434538	T;T;T;T;T|.	0.71461|.	-0.57;-0.57;-0.48;-0.57;-0.57|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.219663|.	0.46145|.	D|.	0.000305|.	T|T	0.63943|0.63943	0.2554|0.2554	L|L	0.51422|0.51422	1.61|1.61	0.41260|0.41260	D|D	0.986779|0.986779	P;D;P;B;P|.	0.55605|.	0.49;0.972;0.789;0.351;0.49|.	B;P;B;B;B|.	0.51516|.	0.125;0.672;0.426;0.125;0.177|.	T|T	0.62562|0.62562	-0.6828|-0.6828	10|5	0.25751|.	T|.	0.34|.	.|.	15.3009|15.3009	0.73949|0.73949	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	528;409;464;507;464|.	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3|.	.;.;.;MMS19_HUMAN;.|.	Q|R	507;507;409;486;143;92;464|82	ENSP00000412698:L507Q;ENSP00000359818:L507Q;ENSP00000320059:L409Q;ENSP00000322236:L143Q;ENSP00000348097:L464Q|.	ENSP00000320059:L409Q|.	L|W	-|-	2|1	0|0	MMS19|MMS19	99215892|99215892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	7.605000|7.605000	0.82844|0.82844	2.027000|2.027000	0.59764|0.59764	0.459000|0.459000	0.35465|0.35465	CTG|TGG	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.572	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	-	0.00	21	0	A			99225902	-1	tier1	-	no_errors	ENST00000370782	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	T
MMS19	64210	genome.wustl.edu	37	10	99225902	99225902	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:99225902A>T	ENST00000438925.2	-	17	1855	c.1520T>A	c.(1519-1521)cTg>cAg	p.L507Q	MMS19_ENST00000370782.2_Missense_Mutation_p.L507Q|MMS19_ENST00000327238.10_Missense_Mutation_p.L409Q|MMS19_ENST00000327277.7_Missense_Mutation_p.L143Q|MMS19_ENST00000355839.6_Missense_Mutation_p.L464Q	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	507					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		TGATGCTTCCAGTGCTGCCAC	0.572								Direct reversal of damage																																									0													32.0	29.0	30.0					10																	99225902		2199	4287	6486	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.1520T>A	10.37:g.99225902A>T	ENSP00000412698:p.Leu507Gln		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_C,superfamily_ARM-type_fold	p.L507Q	ENST00000438925.2	37	c.1520	CCDS7464.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.66|16.66	3.185709|3.185709	0.57909|0.57909	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000327277;ENST00000327253;ENST00000355839|ENST00000434538	T;T;T;T;T|.	0.71461|.	-0.57;-0.57;-0.48;-0.57;-0.57|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.219663|.	0.46145|.	D|.	0.000305|.	T|T	0.63943|0.63943	0.2554|0.2554	L|L	0.51422|0.51422	1.61|1.61	0.41260|0.41260	D|D	0.986779|0.986779	P;D;P;B;P|.	0.55605|.	0.49;0.972;0.789;0.351;0.49|.	B;P;B;B;B|.	0.51516|.	0.125;0.672;0.426;0.125;0.177|.	T|T	0.62562|0.62562	-0.6828|-0.6828	10|5	0.25751|.	T|.	0.34|.	.|.	15.3009|15.3009	0.73949|0.73949	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	528;409;464;507;464|.	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3|.	.;.;.;MMS19_HUMAN;.|.	Q|R	507;507;409;486;143;92;464|82	ENSP00000412698:L507Q;ENSP00000359818:L507Q;ENSP00000320059:L409Q;ENSP00000322236:L143Q;ENSP00000348097:L464Q|.	ENSP00000320059:L409Q|.	L|W	-|-	2|1	0|0	MMS19|MMS19	99215892|99215892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	7.605000|7.605000	0.82844|0.82844	2.027000|2.027000	0.59764|0.59764	0.459000|0.459000	0.35465|0.35465	CTG|TGG	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.572	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	-	0.00	25	0	A			99225902	-1	tier1	-	no_errors	ENST00000370782	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	T
MOAP1	64112	genome.wustl.edu	37	14	93650010	93650010	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:93650010delT	ENST00000556883.1	-	2	1062	c.578delA	c.(577-579)aagfs	p.K193fs	RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank|MOAP1_ENST00000298894.4_Frame_Shift_Del_p.K193fs|TMEM251_ENST00000415050.2_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	193					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ctgccacgcctttatcatctg	0.468																																																	0													62.0	68.0	66.0					14																	93650010		2203	4300	6503	SO:0001589	frameshift_variant	0			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.578delA	14.37:g.93650010delT	ENSP00000451594:p.Lys193fs		B2RDF6|Q9H833|Q9HAS1	Frame_Shift_Del	DEL	NULL	p.K193fs	ENST00000556883.1	37	c.578	CCDS9908.1	14																																																																																			MOAP1	-	NULL	ENSG00000165943		0.468	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOAP1	HGNC	protein_coding	OTTHUMT00000412685.1		0.00	46	0	T			93650010	-1	tier1		no_errors	ENST00000298894	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	0.127	-
MOXD1	26002	genome.wustl.edu	37	6	132618392	132618392	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:132618392C>A	ENST00000367963.3	-	12	1860	c.1742G>T	c.(1741-1743)tGt>tTt	p.C581F	MOXD1_ENST00000336749.3_Missense_Mutation_p.C513F	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	581						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGACGTGCCACACACCAAAGG	0.448																																																	0													179.0	158.0	165.0					6																	132618392		2203	4300	6503	SO:0001583	missense	0			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1742G>T	6.37:g.132618392C>A	ENSP00000356940:p.Cys581Phe		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.C581F	ENST00000367963.3	37	c.1742	CCDS5152.2	6	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703945	0.48412	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.54279	0.59;0.58	5.7	5.7	0.88788	.	0.065807	0.64402	D	0.000009	T	0.65995	0.2745	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.981;0.998	P;D	0.64877	0.687;0.93	T	0.68127	-0.5491	10	0.66056	D	0.02	-12.5007	18.0132	0.89230	0.0:1.0:0.0:0.0	.	581;513	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	F	581;513	ENSP00000356940:C581F;ENSP00000336998:C513F	ENSP00000336998:C513F	C	-	2	0	MOXD1	132660085	0.996000	0.38824	0.650000	0.29550	0.006000	0.05464	4.727000	0.61993	2.686000	0.91538	0.591000	0.81541	TGT	MOXD1	-	NULL	ENSG00000079931		0.448	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	HGNC	protein_coding	OTTHUMT00000125837.1	-	0.00	103	0	C	NM_015529		132618392	-1	tier1	-	no_errors	ENST00000367963	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.923	A
MOXD1	26002	genome.wustl.edu	37	6	132618392	132618392	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:132618392C>A	ENST00000367963.3	-	12	1860	c.1742G>T	c.(1741-1743)tGt>tTt	p.C581F	MOXD1_ENST00000336749.3_Missense_Mutation_p.C513F	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	581						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGACGTGCCACACACCAAAGG	0.448																																																	0													179.0	158.0	165.0					6																	132618392		2203	4300	6503	SO:0001583	missense	0			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1742G>T	6.37:g.132618392C>A	ENSP00000356940:p.Cys581Phe		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.C581F	ENST00000367963.3	37	c.1742	CCDS5152.2	6	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703945	0.48412	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.54279	0.59;0.58	5.7	5.7	0.88788	.	0.065807	0.64402	D	0.000009	T	0.65995	0.2745	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.981;0.998	P;D	0.64877	0.687;0.93	T	0.68127	-0.5491	10	0.66056	D	0.02	-12.5007	18.0132	0.89230	0.0:1.0:0.0:0.0	.	581;513	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	F	581;513	ENSP00000356940:C581F;ENSP00000336998:C513F	ENSP00000336998:C513F	C	-	2	0	MOXD1	132660085	0.996000	0.38824	0.650000	0.29550	0.006000	0.05464	4.727000	0.61993	2.686000	0.91538	0.591000	0.81541	TGT	MOXD1	-	NULL	ENSG00000079931		0.448	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	HGNC	protein_coding	OTTHUMT00000125837.1	-	0.00	82	0	C	NM_015529		132618392	-1	tier1	-	no_errors	ENST00000367963	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.923	A
MPDZ	8777	genome.wustl.edu	37	9	13219624	13219624	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:13219624T>G	ENST00000319217.7	-	8	1267	c.1020A>C	c.(1018-1020)gaA>gaC	p.E340D	MPDZ_ENST00000541718.1_Missense_Mutation_p.E340D|MPDZ_ENST00000536827.1_Missense_Mutation_p.E340D|MPDZ_ENST00000381015.4_Missense_Mutation_p.E340D|MPDZ_ENST00000381022.2_Missense_Mutation_p.E340D|MPDZ_ENST00000447879.1_Missense_Mutation_p.E340D|MPDZ_ENST00000546205.1_Missense_Mutation_p.E340D	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	340					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTGCTGTACGTTCTTCTATGG	0.458																																																	0													180.0	178.0	178.0					9																	13219624		2036	4186	6222	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1020A>C	9.37:g.13219624T>G	ENSP00000320006:p.Glu340Asp		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E340D	ENST00000319217.7	37	c.1020		9	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438342	0.43326	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.13307	2.68;2.6;2.6;2.61;2.67;2.68;2.68	5.93	3.63	0.41609	.	0.000000	0.45126	D	0.000396	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	D;P;D	0.58970	0.965;0.956;0.984	P;P;P	0.51487	0.556;0.671;0.671	T	0.33675	-0.9859	10	0.21540	T	0.41	.	7.6617	0.28407	0.0:0.2639:0.0:0.7361	.	340;340;340	B7ZMI4;O75970-3;O75970-2	.;.;.	D	340	ENSP00000320006:E340D;ENSP00000439807:E340D;ENSP00000370410:E340D;ENSP00000444151:E340D;ENSP00000415208:E340D;ENSP00000370403:E340D;ENSP00000446358:E340D	ENSP00000320006:E340D	E	-	3	2	MPDZ	13209624	0.627000	0.27129	0.840000	0.33206	0.743000	0.42351	0.176000	0.16782	1.085000	0.41206	0.533000	0.62120	GAA	MPDZ	-	NULL	ENSG00000107186		0.458	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	-	0.00	81	0	T	NM_003829		13219624	-1	tier1	-	no_errors	ENST00000319217	ensembl	human	known	74_37	missense	38.81	41	26	SNP	0.669	G
MPDZ	8777	genome.wustl.edu	37	9	13219624	13219624	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:13219624T>G	ENST00000319217.7	-	8	1267	c.1020A>C	c.(1018-1020)gaA>gaC	p.E340D	MPDZ_ENST00000541718.1_Missense_Mutation_p.E340D|MPDZ_ENST00000536827.1_Missense_Mutation_p.E340D|MPDZ_ENST00000381015.4_Missense_Mutation_p.E340D|MPDZ_ENST00000381022.2_Missense_Mutation_p.E340D|MPDZ_ENST00000447879.1_Missense_Mutation_p.E340D|MPDZ_ENST00000546205.1_Missense_Mutation_p.E340D	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	340					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTGCTGTACGTTCTTCTATGG	0.458																																																	0													180.0	178.0	178.0					9																	13219624		2036	4186	6222	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1020A>C	9.37:g.13219624T>G	ENSP00000320006:p.Glu340Asp		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E340D	ENST00000319217.7	37	c.1020		9	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438342	0.43326	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.13307	2.68;2.6;2.6;2.61;2.67;2.68;2.68	5.93	3.63	0.41609	.	0.000000	0.45126	D	0.000396	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	D;P;D	0.58970	0.965;0.956;0.984	P;P;P	0.51487	0.556;0.671;0.671	T	0.33675	-0.9859	10	0.21540	T	0.41	.	7.6617	0.28407	0.0:0.2639:0.0:0.7361	.	340;340;340	B7ZMI4;O75970-3;O75970-2	.;.;.	D	340	ENSP00000320006:E340D;ENSP00000439807:E340D;ENSP00000370410:E340D;ENSP00000444151:E340D;ENSP00000415208:E340D;ENSP00000370403:E340D;ENSP00000446358:E340D	ENSP00000320006:E340D	E	-	3	2	MPDZ	13209624	0.627000	0.27129	0.840000	0.33206	0.743000	0.42351	0.176000	0.16782	1.085000	0.41206	0.533000	0.62120	GAA	MPDZ	-	NULL	ENSG00000107186		0.458	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	-	0.00	94	0	T	NM_003829		13219624	-1	tier1	-	no_errors	ENST00000319217	ensembl	human	known	74_37	missense	38.81	41	26	SNP	0.669	G
MROH6	642475	genome.wustl.edu	37	8	144654593	144654593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:144654593G>A	ENST00000398882.3	-	1	548	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	98																	CCCGTCACCTGGTGGGGCCCC	0.711																																																	0													9.0	11.0	11.0					8																	144654593		1884	4090	5974	SO:0001587	stop_gained	0			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.292C>T	8.37:g.144654593G>A	ENSP00000381857:p.Gln98*		A8MWB1	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q98*	ENST00000398882.3	37	c.292	CCDS47928.1	8	.	.	.	.	.	.	.	.	.	.	g	33	5.203310	0.95033	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	.	.	.	4.52	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.0147	9.9714	0.41757	0.0:0.2067:0.7933:0.0	.	.	.	.	X	98	.	ENSP00000381857:Q98X	Q	-	1	0	C8orf73	144725736	0.786000	0.28738	0.904000	0.35570	0.384000	0.30261	0.880000	0.28159	2.202000	0.70862	0.558000	0.71614	CAG	MROH6	-	NULL	ENSG00000204839		0.711	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH6	HGNC	protein_coding	OTTHUMT00000382330.3	-	0.00	150	0	G	NM_001100878		144654593	-1	tier1	-	no_errors	ENST00000398882	ensembl	human	known	74_37	nonsense	56.92	56	74	SNP	0.668	A
MROH6	642475	genome.wustl.edu	37	8	144654593	144654593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:144654593G>A	ENST00000398882.3	-	1	548	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	98																	CCCGTCACCTGGTGGGGCCCC	0.711																																																	0													9.0	11.0	11.0					8																	144654593		1884	4090	5974	SO:0001587	stop_gained	0			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.292C>T	8.37:g.144654593G>A	ENSP00000381857:p.Gln98*		A8MWB1	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q98*	ENST00000398882.3	37	c.292	CCDS47928.1	8	.	.	.	.	.	.	.	.	.	.	g	33	5.203310	0.95033	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	.	.	.	4.52	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.0147	9.9714	0.41757	0.0:0.2067:0.7933:0.0	.	.	.	.	X	98	.	ENSP00000381857:Q98X	Q	-	1	0	C8orf73	144725736	0.786000	0.28738	0.904000	0.35570	0.384000	0.30261	0.880000	0.28159	2.202000	0.70862	0.558000	0.71614	CAG	MROH6	-	NULL	ENSG00000204839		0.711	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH6	HGNC	protein_coding	OTTHUMT00000382330.3	-	0.00	208	0	G	NM_001100878		144654593	-1	tier1	-	no_errors	ENST00000398882	ensembl	human	known	74_37	nonsense	56.92	56	74	SNP	0.668	A
MS4A14	84689	genome.wustl.edu	37	11	60183454	60183454	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:60183454A>C	ENST00000300187.6	+	5	1290	c.1013A>C	c.(1012-1014)aAg>aCg	p.K338T	MS4A14_ENST00000395005.2_Missense_Mutation_p.K321T|MS4A14_ENST00000531783.1_Missense_Mutation_p.K371T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.K226T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	338						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATGCCATCTAAGTCTACATCA	0.453																																																	0													126.0	107.0	114.0					11																	60183454		2203	4300	6503	SO:0001583	missense	0			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1013A>C	11.37:g.60183454A>C	ENSP00000300187:p.Lys338Thr		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.K338T	ENST00000300187.6	37	c.1013	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	A	8.590	0.884464	0.17467	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.37058	1.23;2.43;1.22;2.76	3.5	-3.74	0.04385	.	8.767720	0.00166	N	0.000000	T	0.25531	0.0621	L	0.27053	0.805	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.06405	0.002;0.001	T	0.25187	-1.0139	10	0.72032	D	0.01	0.0075	5.9054	0.18998	0.4252:0.3949:0.1799:0.0	.	321;338	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	T	226;338;321;371	ENSP00000437222:K226T;ENSP00000300187:K338T;ENSP00000378453:K321T;ENSP00000433761:K371T	ENSP00000300187:K338T	K	+	2	0	MS4A14	59940030	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.007000	0.13174	-1.282000	0.02396	-2.495000	0.00193	AAG	MS4A14	-	NULL	ENSG00000166928		0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2		0.00	39	0	A			60183454	+1			no_errors	ENST00000300187	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	C
MSH4	4438	genome.wustl.edu	37	1	76288110	76288110	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:76288110T>C	ENST00000263187.3	+	7	1110	c.1006T>C	c.(1006-1008)Ttt>Ctt	p.F336L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	336					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCACACTCTCTTTGGTGTTCT	0.308								Mismatch excision repair (MMR)																																									0													88.0	90.0	89.0					1																	76288110		2203	4298	6501	SO:0001583	missense	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1006T>C	1.37:g.76288110T>C	ENSP00000263187:p.Phe336Leu		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.F336L	ENST00000263187.3	37	c.1006	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191003	0.58017	.	.	ENSG00000057468	ENST00000263187	D	0.88818	-2.43	5.84	5.84	0.93424	DNA mismatch repair protein MutS, core (3);	0.111909	0.64402	N	0.000006	T	0.71676	0.3368	L	0.41632	1.29	0.49130	D	0.999753	B	0.17465	0.022	B	0.24974	0.057	T	0.65278	-0.6207	10	0.02654	T	1	-21.1129	12.049	0.53495	0.0:0.0687:0.0:0.9313	.	336	O15457	MSH4_HUMAN	L	336	ENSP00000263187:F336L	ENSP00000263187:F336L	F	+	1	0	MSH4	76060698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.838000	0.62803	2.230000	0.72887	0.528000	0.53228	TTT	MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core	ENSG00000057468		0.308	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1		0.00	85	0	T	NM_002440		76288110	+1			no_errors	ENST00000263187	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	C
MTPAP	55149	genome.wustl.edu	37	10	30662712	30662712	+	Intron	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:30662712C>G	ENST00000488290.1	-	1	139							Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase						cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCCTGGGGCCCTTTCAGTGAC	0.502																																																	0																																										SO:0001627	intron_variant	0			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000488290.1:c.3964+519G>C	10.37:g.30662712C>G			D3DRX0|Q659E3|Q6P7E5|Q9HA74	RNA	SNP	-	NULL	ENST00000488290.1	37	NULL		10																																																																																			MTPAP	-	-	ENSG00000107951		0.502	MTPAP-002	KNOWN	basic	processed_transcript	MTPAP	HGNC	protein_coding	OTTHUMT00000047427.1	-	0.00	33	0	C	NM_018109		30662712	-1	tier1	-	no_errors	ENST00000471055	ensembl	human	known	74_37	rna	16.67	20	4	SNP	0.013	G
MTPAP	55149	genome.wustl.edu	37	10	30662712	30662712	+	Intron	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:30662712C>G	ENST00000488290.1	-	1	139							Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase						cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCCTGGGGCCCTTTCAGTGAC	0.502																																																	0																																										SO:0001627	intron_variant	0			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000488290.1:c.3964+519G>C	10.37:g.30662712C>G			D3DRX0|Q659E3|Q6P7E5|Q9HA74	RNA	SNP	-	NULL	ENST00000488290.1	37	NULL		10																																																																																			MTPAP	-	-	ENSG00000107951		0.502	MTPAP-002	KNOWN	basic	processed_transcript	MTPAP	HGNC	protein_coding	OTTHUMT00000047427.1	-	0.00	34	0	C	NM_018109		30662712	-1	tier1	-	no_errors	ENST00000471055	ensembl	human	known	74_37	rna	16.67	20	4	SNP	0.013	G
MUC12	10071	genome.wustl.edu	37	7	100634420	100634420	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:100634420A>C	ENST00000379442.3	+	5	1005	c.1005A>C	c.(1003-1005)gaA>gaC	p.E335D	MUC12_ENST00000536621.1_Missense_Mutation_p.E192D			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	335	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TCAGTCAGGAATCTACAGCTT	0.562																																																	0													311.0	259.0	275.0					7																	100634420		692	1591	2283	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.1005A>C	7.37:g.100634420A>C	ENSP00000368755:p.Glu335Asp		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.E192D	ENST00000379442.3	37	c.576		7	.	.	.	.	.	.	.	.	.	.	-	8.708	0.911293	0.17833	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12361	2.7;2.69	0.713	-0.81	0.10860	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.43750	-0.9372	7	0.15499	T	0.54	.	4.1796	0.10369	0.7327:0.0:0.2673:0.0	.	.	.	.	D	335;192	ENSP00000368755:E335D;ENSP00000441929:E192D	ENSP00000368755:E335D	E	+	3	2	MUC12	100421140	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.583000	0.02115	-0.296000	0.08947	0.155000	0.16302	GAA	MUC12	-	NULL	ENSG00000205277		0.562	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	0.00	157	0	A	XM_379904		100634420	+1	tier1	-	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	13.45	296	46	SNP	0.001	C
MUC12	10071	genome.wustl.edu	37	7	100634420	100634420	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:100634420A>C	ENST00000379442.3	+	5	1005	c.1005A>C	c.(1003-1005)gaA>gaC	p.E335D	MUC12_ENST00000536621.1_Missense_Mutation_p.E192D			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	335	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TCAGTCAGGAATCTACAGCTT	0.562																																																	0													311.0	259.0	275.0					7																	100634420		692	1591	2283	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.1005A>C	7.37:g.100634420A>C	ENSP00000368755:p.Glu335Asp		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.E192D	ENST00000379442.3	37	c.576		7	.	.	.	.	.	.	.	.	.	.	-	8.708	0.911293	0.17833	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12361	2.7;2.69	0.713	-0.81	0.10860	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.43750	-0.9372	7	0.15499	T	0.54	.	4.1796	0.10369	0.7327:0.0:0.2673:0.0	.	.	.	.	D	335;192	ENSP00000368755:E335D;ENSP00000441929:E192D	ENSP00000368755:E335D	E	+	3	2	MUC12	100421140	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.583000	0.02115	-0.296000	0.08947	0.155000	0.16302	GAA	MUC12	-	NULL	ENSG00000205277		0.562	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	0.00	184	0	A	XM_379904		100634420	+1	tier1	-	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	13.45	296	46	SNP	0.001	C
MUC16	94025	genome.wustl.edu	37	19	9046663	9046663	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9046663T>C	ENST00000397910.4	-	5	35171	c.34968A>G	c.(34966-34968)ccA>ccG	p.P11656P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11658	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGTCTCTGGTTCACCAG	0.512																																																	0													140.0	137.0	138.0					19																	9046663		2072	4216	6288	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34968A>G	19.37:g.9046663T>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P11656	ENST00000397910.4	37	c.34968	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	204	0	T	NM_024690		9046663	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.011	C
MUC16	94025	genome.wustl.edu	37	19	9046663	9046663	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9046663T>C	ENST00000397910.4	-	5	35171	c.34968A>G	c.(34966-34968)ccA>ccG	p.P11656P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11658	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGTCTCTGGTTCACCAG	0.512																																																	0													140.0	137.0	138.0					19																	9046663		2072	4216	6288	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34968A>G	19.37:g.9046663T>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P11656	ENST00000397910.4	37	c.34968	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	238	0	T	NM_024690		9046663	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.011	C
MUC16	94025	genome.wustl.edu	37	19	9073947	9073947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9073947delC	ENST00000397910.4	-	3	13702	c.13499delG	c.(13498-13500)agcfs	p.S4500fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4502	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTTCCATGCTTGTGTTCAA	0.448																																																	0													136.0	127.0	130.0					19																	9073947		1972	4161	6133	SO:0001589	frameshift_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13499delG	19.37:g.9073947delC	ENSP00000381008:p.Ser4500fs		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S4500fs	ENST00000397910.4	37	c.13499	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0.00	52	0	C	NM_024690		9073947	-1	tier1		no_errors	ENST00000397910	ensembl	human	known	74_37	frame_shift_del	13.73	44	7	DEL	0.024	-
MUC16	94025	genome.wustl.edu	37	19	9073947	9073947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9073947delC	ENST00000397910.4	-	3	13702	c.13499delG	c.(13498-13500)agcfs	p.S4500fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4502	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTTCCATGCTTGTGTTCAA	0.448																																																	0													136.0	127.0	130.0					19																	9073947		1972	4161	6133	SO:0001589	frameshift_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13499delG	19.37:g.9073947delC	ENSP00000381008:p.Ser4500fs		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S4500fs	ENST00000397910.4	37	c.13499	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0.00	59	0	C	NM_024690		9073947	-1	tier1		no_errors	ENST00000397910	ensembl	human	known	74_37	frame_shift_del	13.73	44	7	DEL	0.024	-
MUC16	94025	genome.wustl.edu	37	19	9075129	9075129	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9075129C>G	ENST00000397910.4	-	3	12520	c.12317G>C	c.(12316-12318)aGt>aCt	p.S4106T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4108	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTAGGTGCACTTAGTGATGT	0.493																																																	0													121.0	117.0	118.0					19																	9075129		2109	4225	6334	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12317G>C	19.37:g.9075129C>G	ENSP00000381008:p.Ser4106Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S4106T	ENST00000397910.4	37	c.12317	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	8.655	0.899284	0.17686	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	2.09	1.05	0.20165	.	.	.	.	.	T	0.02688	0.0081	L	0.29908	0.895	.	.	.	D	0.56968	0.978	B	0.44224	0.444	T	0.42999	-0.9418	8	0.87932	D	0	.	4.5286	0.11994	0.0:0.8079:0.0:0.1921	.	4106	B5ME49	.	T	4106	ENSP00000381008:S4106T	ENSP00000381008:S4106T	S	-	2	0	MUC16	8936129	0.000000	0.05858	0.000000	0.03702	0.668000	0.39293	-1.635000	0.02018	0.452000	0.26830	0.313000	0.20887	AGT	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	35	0	C	NM_024690		9075129	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9075129	9075129	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9075129C>G	ENST00000397910.4	-	3	12520	c.12317G>C	c.(12316-12318)aGt>aCt	p.S4106T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4108	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTAGGTGCACTTAGTGATGT	0.493																																																	0													121.0	117.0	118.0					19																	9075129		2109	4225	6334	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12317G>C	19.37:g.9075129C>G	ENSP00000381008:p.Ser4106Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S4106T	ENST00000397910.4	37	c.12317	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	8.655	0.899284	0.17686	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	2.09	1.05	0.20165	.	.	.	.	.	T	0.02688	0.0081	L	0.29908	0.895	.	.	.	D	0.56968	0.978	B	0.44224	0.444	T	0.42999	-0.9418	8	0.87932	D	0	.	4.5286	0.11994	0.0:0.8079:0.0:0.1921	.	4106	B5ME49	.	T	4106	ENSP00000381008:S4106T	ENSP00000381008:S4106T	S	-	2	0	MUC16	8936129	0.000000	0.05858	0.000000	0.03702	0.668000	0.39293	-1.635000	0.02018	0.452000	0.26830	0.313000	0.20887	AGT	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	72	0	C	NM_024690		9075129	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9083064	9083064	+	Missense_Mutation	SNP	A	A	C	rs376210567		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9083064A>C	ENST00000397910.4	-	1	8954	c.8751T>G	c.(8749-8751)atT>atG	p.I2917M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2918	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGTCTGGAATGGTGTTCA	0.473																																																	0													95.0	85.0	88.0					19																	9083064		1921	4137	6058	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8751T>G	19.37:g.9083064A>C	ENSP00000381008:p.Ile2917Met		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.I2917M	ENST00000397910.4	37	c.8751	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	4.462	0.085511	0.08583	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.773	-0.421	0.12332	.	.	.	.	.	T	0.01976	0.0062	N	0.08118	0	.	.	.	D	0.58268	0.982	P	0.47603	0.551	T	0.45293	-0.9271	8	0.87932	D	0	.	2.8508	0.05556	0.6373:0.0:0.3627:0.0	.	2917	B5ME49	.	M	2917	ENSP00000381008:I2917M	ENSP00000381008:I2917M	I	-	3	3	MUC16	8944064	0.008000	0.16893	0.003000	0.11579	0.544000	0.35116	-0.280000	0.08468	-0.231000	0.09825	0.260000	0.18958	ATT	MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0.00	58	0	A	NM_024690		9083064	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.004	C
MUC16	94025	genome.wustl.edu	37	19	9089101	9089101	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9089101G>T	ENST00000397910.4	-	1	2917	c.2714C>A	c.(2713-2715)cCt>cAt	p.P905H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	905	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P905H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAACGTGTAGGCCAGGTGTC	0.517																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											91.0	93.0	92.0					19																	9089101		1992	4180	6172	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2714C>A	19.37:g.9089101G>T	ENSP00000381008:p.Pro905His		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P905H	ENST00000397910.4	37	c.2714	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.712	-0.498754	0.04291	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	1.22	-0.00312	0.14027	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	P	0.36438	0.553	B	0.25987	0.065	T	0.43718	-0.9374	8	0.87932	D	0	.	4.9935	0.14226	0.0:0.3873:0.6126:0.0	.	905	B5ME49	.	H	905	ENSP00000381008:P905H	ENSP00000381008:P905H	P	-	2	0	MUC16	8950101	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.966000	0.03825	0.057000	0.16193	0.205000	0.17691	CCT	MUC16	-	NULL	ENSG00000181143		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0.00	72	0	G	NM_024690		9089101	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.000	T
MUC5B	727897	genome.wustl.edu	37	11	1274134	1274134	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:1274134C>T	ENST00000529681.1	+	33	15199	c.15141C>T	c.(15139-15141)gtC>gtT	p.V5047V	MUC5B_ENST00000447027.1_Silent_p.V5050V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5047					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGCCAACGTCACCTGCGTGA	0.627																																																	0													68.0	77.0	74.0					11																	1274134		2160	4238	6398	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15141C>T	11.37:g.1274134C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V5050	ENST00000529681.1	37	c.15150	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0.00	77	0	C	XM_001126093		1274134	+1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	32.73	37	18	SNP	0.006	T
MUC5B	727897	genome.wustl.edu	37	11	1274134	1274134	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:1274134C>T	ENST00000529681.1	+	33	15199	c.15141C>T	c.(15139-15141)gtC>gtT	p.V5047V	MUC5B_ENST00000447027.1_Silent_p.V5050V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5047					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGCCAACGTCACCTGCGTGA	0.627																																																	0													68.0	77.0	74.0					11																	1274134		2160	4238	6398	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15141C>T	11.37:g.1274134C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V5050	ENST00000529681.1	37	c.15150	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0.00	87	0	C	XM_001126093		1274134	+1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	32.73	37	18	SNP	0.006	T
MXRA5	25878	genome.wustl.edu	37	X	3240213	3240213	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:3240213G>T	ENST00000217939.6	-	5	3667	c.3513C>A	c.(3511-3513)ccC>ccA	p.P1171P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1171						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAAAAGTTGTGGGTGGGGTTT	0.502																																																	0													120.0	122.0	122.0					X																	3240213		2203	4300	6503	SO:0001819	synonymous_variant	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3513C>A	X.37:g.3240213G>T			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P1171	ENST00000217939.6	37	c.3513	CCDS14124.1	X																																																																																			MXRA5	-	NULL	ENSG00000101825		0.502	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0.00	20	0	G	NM_015419		3240213	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	silent	15.00	34	6	SNP	0.000	T
MXRA5	25878	genome.wustl.edu	37	X	3240213	3240213	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:3240213G>T	ENST00000217939.6	-	5	3667	c.3513C>A	c.(3511-3513)ccC>ccA	p.P1171P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1171						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAAAAGTTGTGGGTGGGGTTT	0.502																																																	0													120.0	122.0	122.0					X																	3240213		2203	4300	6503	SO:0001819	synonymous_variant	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3513C>A	X.37:g.3240213G>T			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P1171	ENST00000217939.6	37	c.3513	CCDS14124.1	X																																																																																			MXRA5	-	NULL	ENSG00000101825		0.502	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0.00	35	0	G	NM_015419		3240213	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	silent	15.00	34	6	SNP	0.000	T
MXRA5	25878	genome.wustl.edu	37	X	3240217	3240217	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:3240217G>T	ENST00000217939.6	-	5	3663	c.3509C>A	c.(3508-3510)cCa>cAa	p.P1170Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1170						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTTGTGGGTGGGGTTTGCTT	0.507																																																	0													122.0	124.0	123.0					X																	3240217		2203	4300	6503	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3509C>A	X.37:g.3240217G>T	ENSP00000217939:p.Pro1170Gln		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P1170Q	ENST00000217939.6	37	c.3509	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	7.467	0.645917	0.14451	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.61	-1.97	0.07503	.	1.810110	0.03444	U	0.209723	T	0.45856	0.1363	N	0.24115	0.695	0.09310	N	1	P	0.44578	0.838	B	0.41813	0.367	T	0.39461	-0.9613	10	0.26408	T	0.33	.	5.0645	0.14574	0.3827:0.2378:0.3795:0.0	.	1170	Q9NR99	MXRA5_HUMAN	Q	1170	ENSP00000217939:P1170Q	ENSP00000217939:P1170Q	P	-	2	0	MXRA5	3250217	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-0.617000	0.05584	0.021000	0.15133	0.519000	0.50382	CCA	MXRA5	-	NULL	ENSG00000101825		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0.00	24	0	G	NM_015419		3240217	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	17.07	34	7	SNP	0.000	T
MXRA5	25878	genome.wustl.edu	37	X	3240217	3240217	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:3240217G>T	ENST00000217939.6	-	5	3663	c.3509C>A	c.(3508-3510)cCa>cAa	p.P1170Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1170						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTTGTGGGTGGGGTTTGCTT	0.507																																																	0													122.0	124.0	123.0					X																	3240217		2203	4300	6503	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3509C>A	X.37:g.3240217G>T	ENSP00000217939:p.Pro1170Gln		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P1170Q	ENST00000217939.6	37	c.3509	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	7.467	0.645917	0.14451	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.61	-1.97	0.07503	.	1.810110	0.03444	U	0.209723	T	0.45856	0.1363	N	0.24115	0.695	0.09310	N	1	P	0.44578	0.838	B	0.41813	0.367	T	0.39461	-0.9613	10	0.26408	T	0.33	.	5.0645	0.14574	0.3827:0.2378:0.3795:0.0	.	1170	Q9NR99	MXRA5_HUMAN	Q	1170	ENSP00000217939:P1170Q	ENSP00000217939:P1170Q	P	-	2	0	MXRA5	3250217	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-0.617000	0.05584	0.021000	0.15133	0.519000	0.50382	CCA	MXRA5	-	NULL	ENSG00000101825		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0.00	37	0	G	NM_015419		3240217	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	17.07	34	7	SNP	0.000	T
MYBPC3	4607	genome.wustl.edu	37	11	47364601	47364601	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:47364601T>C	ENST00000545968.1	-	15	1376	c.1322A>G	c.(1321-1323)gAg>gGg	p.E441G	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E440G|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E441G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	441	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCTACACTTCTCGCCACCCAC	0.607																																																	0													51.0	55.0	54.0					11																	47364601		2138	4244	6382	SO:0001583	missense	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1322A>G	11.37:g.47364601T>C	ENSP00000442795:p.Glu441Gly		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E441G	ENST00000545968.1	37	c.1322	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210738	0.58343	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.41065	1.01;1.01;1.01	4.72	4.72	0.59763	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53174	0.1780	L	0.47190	1.495	0.58432	D	0.99999	D	0.56968	0.978	P	0.59825	0.864	T	0.57318	-0.7832	9	0.87932	D	0	.	14.0261	0.64586	0.0:0.0:0.0:1.0	.	440	Q14896	MYPC3_HUMAN	G	441;441;440	ENSP00000442795:E441G;ENSP00000382193:E441G;ENSP00000256993:E440G	ENSP00000256993:E440G	E	-	2	0	MYBPC3	47321177	1.000000	0.71417	0.965000	0.40720	0.009000	0.06853	7.273000	0.78527	1.982000	0.57802	0.379000	0.24179	GAG	MYBPC3	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000134571		0.607	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0.00	78	0	T			47364601	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	21.95	32	9	SNP	1.000	C
MYBPC3	4607	genome.wustl.edu	37	11	47364601	47364601	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:47364601T>C	ENST00000545968.1	-	15	1376	c.1322A>G	c.(1321-1323)gAg>gGg	p.E441G	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E440G|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E441G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	441	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCTACACTTCTCGCCACCCAC	0.607																																																	0													51.0	55.0	54.0					11																	47364601		2138	4244	6382	SO:0001583	missense	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1322A>G	11.37:g.47364601T>C	ENSP00000442795:p.Glu441Gly		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E441G	ENST00000545968.1	37	c.1322	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210738	0.58343	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.41065	1.01;1.01;1.01	4.72	4.72	0.59763	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53174	0.1780	L	0.47190	1.495	0.58432	D	0.99999	D	0.56968	0.978	P	0.59825	0.864	T	0.57318	-0.7832	9	0.87932	D	0	.	14.0261	0.64586	0.0:0.0:0.0:1.0	.	440	Q14896	MYPC3_HUMAN	G	441;441;440	ENSP00000442795:E441G;ENSP00000382193:E441G;ENSP00000256993:E440G	ENSP00000256993:E440G	E	-	2	0	MYBPC3	47321177	1.000000	0.71417	0.965000	0.40720	0.009000	0.06853	7.273000	0.78527	1.982000	0.57802	0.379000	0.24179	GAG	MYBPC3	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000134571		0.607	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0.00	86	0	T			47364601	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	21.95	32	9	SNP	1.000	C
MYH1	4619	genome.wustl.edu	37	17	10399820	10399820	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:10399820T>G	ENST00000226207.5	-	34	4797	c.4703A>C	c.(4702-4704)gAg>gCg	p.E1568A	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1568					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGGTTCAACTCAAGCTGGAT	0.413																																																	0													106.0	106.0	106.0					17																	10399820		2203	4297	6500	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4703A>C	17.37:g.10399820T>G	ENSP00000226207:p.Glu1568Ala		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1568A	ENST00000226207.5	37	c.4703	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275113	0.80580	.	.	ENSG00000109061	ENST00000226207	T	0.80824	-1.42	5.52	5.52	0.82312	Myosin tail (1);	0.000000	0.43579	U	0.000542	D	0.89413	0.6708	M	0.83603	2.65	0.58432	D	0.999999	P	0.42908	0.793	P	0.58210	0.835	D	0.90727	0.4639	10	0.87932	D	0	.	15.9239	0.79597	0.0:0.0:0.0:1.0	.	1568	P12882	MYH1_HUMAN	A	1568	ENSP00000226207:E1568A	ENSP00000226207:E1568A	E	-	2	0	MYH1	10340545	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.972000	0.88022	2.207000	0.71202	0.533000	0.62120	GAG	MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.413	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0.00	52	0	T	NM_005963		10399820	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	19.70	53	13	SNP	1.000	G
MYH1	4619	genome.wustl.edu	37	17	10399820	10399820	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:10399820T>G	ENST00000226207.5	-	34	4797	c.4703A>C	c.(4702-4704)gAg>gCg	p.E1568A	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1568					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGGTTCAACTCAAGCTGGAT	0.413																																																	0													106.0	106.0	106.0					17																	10399820		2203	4297	6500	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4703A>C	17.37:g.10399820T>G	ENSP00000226207:p.Glu1568Ala		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1568A	ENST00000226207.5	37	c.4703	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275113	0.80580	.	.	ENSG00000109061	ENST00000226207	T	0.80824	-1.42	5.52	5.52	0.82312	Myosin tail (1);	0.000000	0.43579	U	0.000542	D	0.89413	0.6708	M	0.83603	2.65	0.58432	D	0.999999	P	0.42908	0.793	P	0.58210	0.835	D	0.90727	0.4639	10	0.87932	D	0	.	15.9239	0.79597	0.0:0.0:0.0:1.0	.	1568	P12882	MYH1_HUMAN	A	1568	ENSP00000226207:E1568A	ENSP00000226207:E1568A	E	-	2	0	MYH1	10340545	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.972000	0.88022	2.207000	0.71202	0.533000	0.62120	GAG	MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.413	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0.00	74	0	T	NM_005963		10399820	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	19.70	53	13	SNP	1.000	G
MYH7	4625	genome.wustl.edu	37	14	23885406	23885406	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:23885406T>G	ENST00000355349.3	-	34	4922	c.4760A>C	c.(4759-4761)aAg>aCg	p.K1587T	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1587					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTGGTTGCGCTTGGCCTGTTC	0.617																																																	0													180.0	158.0	165.0					14																	23885406		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4760A>C	14.37:g.23885406T>G	ENSP00000347507:p.Lys1587Thr		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1587T	ENST00000355349.3	37	c.4760	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092893	0.76756	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.80909	-1.43	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.90779	0.7105	M	0.90922	3.16	0.58432	D	0.999999	D	0.53619	0.961	D	0.64410	0.925	D	0.92889	0.6329	9	0.87932	D	0	.	14.3618	0.66776	0.0:0.0:0.0:1.0	.	1587	P12883	MYH7_HUMAN	T	1587;1592	ENSP00000347507:K1587T	ENSP00000347507:K1587T	K	-	2	0	MYH7	22955246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.611000	0.67674	2.052000	0.61016	0.533000	0.62120	AAG	MYH7	-	pfam_Myosin_tail	ENSG00000092054		0.617	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0.00	53	0	T	NM_000257		23885406	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	G
MYH7	4625	genome.wustl.edu	37	14	23885406	23885406	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:23885406T>G	ENST00000355349.3	-	34	4922	c.4760A>C	c.(4759-4761)aAg>aCg	p.K1587T	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1587					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTGGTTGCGCTTGGCCTGTTC	0.617																																																	0													180.0	158.0	165.0					14																	23885406		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4760A>C	14.37:g.23885406T>G	ENSP00000347507:p.Lys1587Thr		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1587T	ENST00000355349.3	37	c.4760	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092893	0.76756	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.80909	-1.43	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.90779	0.7105	M	0.90922	3.16	0.58432	D	0.999999	D	0.53619	0.961	D	0.64410	0.925	D	0.92889	0.6329	9	0.87932	D	0	.	14.3618	0.66776	0.0:0.0:0.0:1.0	.	1587	P12883	MYH7_HUMAN	T	1587;1592	ENSP00000347507:K1587T	ENSP00000347507:K1587T	K	-	2	0	MYH7	22955246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.611000	0.67674	2.052000	0.61016	0.533000	0.62120	AAG	MYH7	-	pfam_Myosin_tail	ENSG00000092054		0.617	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0.00	55	0	T	NM_000257		23885406	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	G
MYO3A	53904	genome.wustl.edu	37	10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403																																																	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)											67.0	66.0	67.0					10																	26462760		2203	4300	6503	SO:0001589	frameshift_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3567delA	10.37:g.26462760delA	ENSP00000265944:p.Pro1189fs		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.M1192fs	ENST00000265944.5	37	c.3567	CCDS7148.1	10																																																																																			MYO3A	-	superfamily_P-loop_NTPase	ENSG00000095777		0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1		0.00	42	0	A	NM_017433		26462760	+1	tier1		no_errors	ENST00000265944	ensembl	human	known	74_37	frame_shift_del	30.30	46	20	DEL	0.509	-
MYO3A	53904	genome.wustl.edu	37	10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403																																																	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)											67.0	66.0	67.0					10																	26462760		2203	4300	6503	SO:0001589	frameshift_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3567delA	10.37:g.26462760delA	ENSP00000265944:p.Pro1189fs		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.M1192fs	ENST00000265944.5	37	c.3567	CCDS7148.1	10																																																																																			MYO3A	-	superfamily_P-loop_NTPase	ENSG00000095777		0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1		0.00	67	0	A	NM_017433		26462760	+1	tier1		no_errors	ENST00000265944	ensembl	human	known	74_37	frame_shift_del	30.30	46	20	DEL	0.509	-
NAA16	79612	genome.wustl.edu	37	13	41949637	41949637	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:41949637C>T	ENST00000379406.3	+	20	2818	c.2494C>T	c.(2494-2496)Cct>Tct	p.P832S	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	832					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TAACCTGCTTCCTTTTACATC	0.408																																																	0													165.0	139.0	148.0					13																	41949637		2203	4300	6503	SO:0001583	missense	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.2494C>T	13.37:g.41949637C>T	ENSP00000368716:p.Pro832Ser		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P832S	ENST00000379406.3	37	c.2494	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273666	0.80580	.	.	ENSG00000172766	ENST00000379406	T	0.54071	0.59	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.73218	0.3559	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.74937	-0.3494	10	0.59425	D	0.04	-13.655	19.4133	0.94685	0.0:1.0:0.0:0.0	.	832	Q6N069	NAA16_HUMAN	S	832	ENSP00000368716:P832S	ENSP00000368716:P832S	P	+	1	0	NAA16	40847637	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.169000	0.58223	2.597000	0.87782	0.650000	0.86243	CCT	NAA16	-	NULL	ENSG00000172766		0.408	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	-	0.00	54	0	C	NM_018527		41949637	+1	tier1	-	no_errors	ENST00000379406	ensembl	human	known	74_37	missense	6.25	59	4	SNP	1.000	T
NAA16	79612	genome.wustl.edu	37	13	41949637	41949637	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:41949637C>T	ENST00000379406.3	+	20	2818	c.2494C>T	c.(2494-2496)Cct>Tct	p.P832S	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	832					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TAACCTGCTTCCTTTTACATC	0.408																																																	0													165.0	139.0	148.0					13																	41949637		2203	4300	6503	SO:0001583	missense	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.2494C>T	13.37:g.41949637C>T	ENSP00000368716:p.Pro832Ser		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P832S	ENST00000379406.3	37	c.2494	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273666	0.80580	.	.	ENSG00000172766	ENST00000379406	T	0.54071	0.59	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.73218	0.3559	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.74937	-0.3494	10	0.59425	D	0.04	-13.655	19.4133	0.94685	0.0:1.0:0.0:0.0	.	832	Q6N069	NAA16_HUMAN	S	832	ENSP00000368716:P832S	ENSP00000368716:P832S	P	+	1	0	NAA16	40847637	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.169000	0.58223	2.597000	0.87782	0.650000	0.86243	CCT	NAA16	-	NULL	ENSG00000172766		0.408	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	-	0.00	79	0	C	NM_018527		41949637	+1	tier1	-	no_errors	ENST00000379406	ensembl	human	known	74_37	missense	6.25	59	4	SNP	1.000	T
NAV2	89797	genome.wustl.edu	37	11	20005691	20005691	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:20005691T>G	ENST00000396087.3	+	12	2834	c.2735T>G	c.(2734-2736)cTt>cGt	p.L912R	NAV2_ENST00000360655.4_Missense_Mutation_p.L825R|NAV2_ENST00000349880.4_Missense_Mutation_p.L889R|NAV2_ENST00000540292.1_Missense_Mutation_p.L843R|NAV2_ENST00000396085.1_Missense_Mutation_p.L889R|NAV2_ENST00000527559.2_Missense_Mutation_p.L841R|NAV2-AS3_ENST00000534036.1_RNA	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	912					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GATGGTGGACTTGGCCTCTAT	0.532																																																	0													152.0	144.0	147.0					11																	20005691		2203	4300	6503	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2735T>G	11.37:g.20005691T>G	ENSP00000379396:p.Leu912Arg		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.L912R	ENST00000396087.3	37	c.2735	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404275	0.83230	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.37058	1.22;1.46;1.46;1.44;1.35;1.34	5.65	5.65	0.86999	.	0.000000	0.51477	D	0.000086	T	0.49932	0.1586	L	0.43923	1.385	0.80722	D	1	D;D	0.64830	0.99;0.994	D;D	0.65010	0.931;0.926	T	0.40117	-0.9580	9	.	.	.	.	15.1588	0.72764	0.0:0.0:0.0:1.0	.	889;825	Q8IVL1-3;Q8IVL1-4	.;.	R	825;889;889;912;841;843	ENSP00000353871:L825R;ENSP00000379394:L889R;ENSP00000309577:L889R;ENSP00000379396:L912R;ENSP00000435395:L841R;ENSP00000443489:L843R	.	L	+	2	0	NAV2	19962267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.992000	0.76238	2.279000	0.76181	0.533000	0.62120	CTT	NAV2	-	NULL	ENSG00000166833		0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0.00	85	0	T	NM_145117		20005691	+1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	G
NAV2	89797	genome.wustl.edu	37	11	20005691	20005691	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:20005691T>G	ENST00000396087.3	+	12	2834	c.2735T>G	c.(2734-2736)cTt>cGt	p.L912R	NAV2_ENST00000360655.4_Missense_Mutation_p.L825R|NAV2_ENST00000349880.4_Missense_Mutation_p.L889R|NAV2_ENST00000540292.1_Missense_Mutation_p.L843R|NAV2_ENST00000396085.1_Missense_Mutation_p.L889R|NAV2_ENST00000527559.2_Missense_Mutation_p.L841R|NAV2-AS3_ENST00000534036.1_RNA	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	912					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GATGGTGGACTTGGCCTCTAT	0.532																																																	0													152.0	144.0	147.0					11																	20005691		2203	4300	6503	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2735T>G	11.37:g.20005691T>G	ENSP00000379396:p.Leu912Arg		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.L912R	ENST00000396087.3	37	c.2735	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404275	0.83230	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.37058	1.22;1.46;1.46;1.44;1.35;1.34	5.65	5.65	0.86999	.	0.000000	0.51477	D	0.000086	T	0.49932	0.1586	L	0.43923	1.385	0.80722	D	1	D;D	0.64830	0.99;0.994	D;D	0.65010	0.931;0.926	T	0.40117	-0.9580	9	.	.	.	.	15.1588	0.72764	0.0:0.0:0.0:1.0	.	889;825	Q8IVL1-3;Q8IVL1-4	.;.	R	825;889;889;912;841;843	ENSP00000353871:L825R;ENSP00000379394:L889R;ENSP00000309577:L889R;ENSP00000379396:L912R;ENSP00000435395:L841R;ENSP00000443489:L843R	.	L	+	2	0	NAV2	19962267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.992000	0.76238	2.279000	0.76181	0.533000	0.62120	CTT	NAV2	-	NULL	ENSG00000166833		0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0.00	99	0	T	NM_145117		20005691	+1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	G
NBAS	51594	genome.wustl.edu	37	2	15615819	15615819	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:15615819T>A	ENST00000281513.5	-	14	1358	c.1333A>T	c.(1333-1335)Agt>Tgt	p.S445C	NBAS_ENST00000441750.1_Missense_Mutation_p.S445C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	445					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACCTCCAAACTTAAAAATCCC	0.323																																																	0													68.0	69.0	68.0					2																	15615819		2203	4300	6503	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1333A>T	2.37:g.15615819T>A	ENSP00000281513:p.Ser445Cys		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.S445C	ENST00000281513.5	37	c.1333	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500355	0.44455	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09911	2.93;3.08	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.18425	0.0442	L	0.27053	0.805	0.27683	N	0.946389	D	0.69078	0.997	P	0.57371	0.819	T	0.02698	-1.1122	10	0.87932	D	0	.	16.2421	0.82418	0.0:0.0:0.0:1.0	.	445	A2RRP1	NBAS_HUMAN	C	445	ENSP00000413201:S445C;ENSP00000281513:S445C	ENSP00000281513:S445C	S	-	1	0	NBAS	15533270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.256000	0.72473	2.239000	0.73571	0.459000	0.35465	AGT	NBAS	-	NULL	ENSG00000151779		0.323	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	-	0.00	113	0	T	NM_015909		15615819	-1	tier1	-	no_errors	ENST00000281513	ensembl	human	known	74_37	missense	20.25	63	16	SNP	1.000	A
NBAS	51594	genome.wustl.edu	37	2	15615819	15615819	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:15615819T>A	ENST00000281513.5	-	14	1358	c.1333A>T	c.(1333-1335)Agt>Tgt	p.S445C	NBAS_ENST00000441750.1_Missense_Mutation_p.S445C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	445					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACCTCCAAACTTAAAAATCCC	0.323																																																	0													68.0	69.0	68.0					2																	15615819		2203	4300	6503	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1333A>T	2.37:g.15615819T>A	ENSP00000281513:p.Ser445Cys		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.S445C	ENST00000281513.5	37	c.1333	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500355	0.44455	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09911	2.93;3.08	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.18425	0.0442	L	0.27053	0.805	0.27683	N	0.946389	D	0.69078	0.997	P	0.57371	0.819	T	0.02698	-1.1122	10	0.87932	D	0	.	16.2421	0.82418	0.0:0.0:0.0:1.0	.	445	A2RRP1	NBAS_HUMAN	C	445	ENSP00000413201:S445C;ENSP00000281513:S445C	ENSP00000281513:S445C	S	-	1	0	NBAS	15533270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.256000	0.72473	2.239000	0.73571	0.459000	0.35465	AGT	NBAS	-	NULL	ENSG00000151779		0.323	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	-	0.00	80	0	T	NM_015909		15615819	-1	tier1	-	no_errors	ENST00000281513	ensembl	human	known	74_37	missense	20.25	63	16	SNP	1.000	A
NBN	4683	genome.wustl.edu	37	8	90983510	90983510	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:90983510G>T	ENST00000265433.3	-	6	747	c.593C>A	c.(592-594)cCa>cAa	p.P198Q	NBN_ENST00000409330.1_Missense_Mutation_p.P116Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	198	Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATCAAGAGGTGGGTAAAAACT	0.299								Homologous recombination																																									0													45.0	46.0	46.0					8																	90983510		2201	4294	6495	SO:0001583	missense	0			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.593C>A	8.37:g.90983510G>T	ENSP00000265433:p.Pro198Gln		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.P198Q	ENST00000265433.3	37	c.593	CCDS6249.1	8	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382702	0.82792	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000519426;ENST00000517772	T;T;T;T	0.79940	-1.32;-1.11;1.31;-1.14	5.84	5.84	0.93424	.	0.050989	0.85682	D	0.000000	D	0.91633	0.7356	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92172	0.5744	10	0.87932	D	0	-17.6889	20.1346	0.98019	0.0:0.0:1.0:0.0	.	198;198	A6H8Y5;O60934	.;NBN_HUMAN	Q	198;116;198;110;116	ENSP00000265433:P198Q;ENSP00000386924:P116Q;ENSP00000430983:P110Q;ENSP00000428717:P116Q	ENSP00000265433:P198Q	P	-	2	0	NBN	91052686	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.987000	0.76206	2.765000	0.95021	0.655000	0.94253	CCA	NBN	-	pirsf_Nibrin_met	ENSG00000104320		0.299	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3	-	0.00	59	0	G	NM_001024688		90983510	-1	tier1	-	no_errors	ENST00000265433	ensembl	human	known	74_37	missense	5.49	86	5	SNP	1.000	T
NBPF10	100132406	genome.wustl.edu	37	1	145354324	145354324	+	Missense_Mutation	SNP	G	G	A	rs372557852		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:145354324G>A	ENST00000369339.3	+	11	1323	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.G2751E			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	628						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGAGAAAGGGCCTGAAGTC	0.478																																																	0																																										SO:0001583	missense	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1070G>A	1.37:g.145354324G>A	ENSP00000358345:p.Gly357Glu		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.G2751E	ENST00000369339.3	37	c.8252		1	.	.	.	.	.	.	.	.	.	.	.	0	-2.674612	0.00104	.	.	ENSG00000163386	ENST00000448873;ENST00000342960	T	0.02579	4.24	0.557	0.557	0.17260	.	.	.	.	.	T	0.00178	0.0005	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36817	-0.9732	8	0.02654	T	1	.	.	.	.	.	2507	A6NDV3	.	E	553;2751	ENSP00000345684:G2751E	ENSP00000345684:G2751E	G	+	2	0	NBPF10	144065681	0.001000	0.12720	0.017000	0.16124	0.016000	0.09150	0.195000	0.17155	-0.360000	0.08138	-1.353000	0.01230	GGG	NBPF10	-	pfam_NBPF_dom	ENSG00000163386		0.478	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	-	0.00	11	0	G	NM_001039703		145354324	+1	tier1	-	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.022	A
NCKAP1L	3071	genome.wustl.edu	37	12	54910699	54910699	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:54910699C>T	ENST00000293373.6	+	11	1097	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R290W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	340					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCATTGTCAACGGCGGCAATT	0.502																																																	0													117.0	111.0	113.0					12																	54910699		2203	4300	6503	SO:0001583	missense	0			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1018C>T	12.37:g.54910699C>T	ENSP00000293373:p.Arg340Trp		B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.R340W	ENST00000293373.6	37	c.1018	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755694	0.69648	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57752	0.38;0.38	5.19	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.78049	2.395	0.45791	D	0.998673	D	0.89917	1.0	D	0.79784	0.993	T	0.72701	-0.4214	10	0.87932	D	0	-15.0223	11.6326	0.51185	0.466:0.534:0.0:0.0	.	340	P55160	NCKPL_HUMAN	W	340;290	ENSP00000293373:R340W;ENSP00000445596:R290W	ENSP00000293373:R340W	R	+	1	2	NCKAP1L	53196966	0.956000	0.32656	1.000000	0.80357	0.983000	0.72400	0.578000	0.23773	0.659000	0.30945	0.591000	0.81541	CGG	NCKAP1L	-	pfam_Nck-associated_protein-1	ENSG00000123338		0.502	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	-	0.00	124	0	C	NM_005337		54910699	+1	tier1	-	no_errors	ENST00000293373	ensembl	human	known	74_37	missense	26.26	73	26	SNP	1.000	T
NDST3	9348	genome.wustl.edu	37	4	119036076	119036076	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:119036076T>C	ENST00000296499.5	+	4	1588	c.1185T>C	c.(1183-1185)tcT>tcC	p.S395S	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	395	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATGAGTCATCTTTGGTGGAGC	0.428																																																	0													134.0	124.0	128.0					4																	119036076		2203	4300	6503	SO:0001819	synonymous_variant	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1185T>C	4.37:g.119036076T>C			B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S395	ENST00000296499.5	37	c.1185	CCDS3708.1	4																																																																																			NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.428	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0.00	216	0	T	NM_004784		119036076	+1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	silent	22.10	141	40	SNP	0.138	C
NDST3	9348	genome.wustl.edu	37	4	119036076	119036076	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:119036076T>C	ENST00000296499.5	+	4	1588	c.1185T>C	c.(1183-1185)tcT>tcC	p.S395S	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	395	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATGAGTCATCTTTGGTGGAGC	0.428																																																	0													134.0	124.0	128.0					4																	119036076		2203	4300	6503	SO:0001819	synonymous_variant	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1185T>C	4.37:g.119036076T>C			B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S395	ENST00000296499.5	37	c.1185	CCDS3708.1	4																																																																																			NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.428	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0.00	294	0	T	NM_004784		119036076	+1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	silent	22.10	141	40	SNP	0.138	C
NELL1	4745	genome.wustl.edu	37	11	20948936	20948936	+	Missense_Mutation	SNP	G	G	T	rs140129150	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:20948936G>T	ENST00000357134.5	+	8	994	c.842G>T	c.(841-843)cGa>cTa	p.R281L	NELL1_ENST00000532434.1_Missense_Mutation_p.R281L|NELL1_ENST00000298925.5_Missense_Mutation_p.R309L|NELL1_ENST00000325319.5_Missense_Mutation_p.R224L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	281	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGCTCTATCGAGATCAAGAC	0.393																																																	0													127.0	120.0	123.0					11																	20948936		2203	4300	6503	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.842G>T	11.37:g.20948936G>T	ENSP00000349654:p.Arg281Leu		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.R281L	ENST00000357134.5	37	c.842	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784172	0.90282	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.7	5.7	0.88788	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	L	0.49126	1.545	0.58432	D	0.999996	D;D;D;D	0.76494	0.998;0.999;0.994;0.999	D;D;D;D	0.85130	0.994;0.997;0.954;0.997	T	0.81484	-0.0912	10	0.54805	T	0.06	-14.2843	19.851	0.96740	0.0:0.0:1.0:0.0	.	224;309;281;281	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	L	309;281;224;281	ENSP00000298925:R309L;ENSP00000349654:R281L;ENSP00000317837:R224L;ENSP00000437170:R281L	ENSP00000298925:R309L	R	+	2	0	NELL1	20905512	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.199000	0.95003	2.687000	0.91594	0.557000	0.71058	CGA	NELL1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000165973		0.393	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1		0.00	88	0	G	NM_006157		20948936	+1			no_errors	ENST00000357134	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
NEO1	4756	genome.wustl.edu	37	15	73566202	73566202	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:73566202G>A	ENST00000339362.5	+	21	3463	c.3016G>A	c.(3016-3018)Gtt>Att	p.V1006I	NEO1_ENST00000261908.6_Missense_Mutation_p.V1006I|NEO1_ENST00000558964.1_Missense_Mutation_p.V1006I|NEO1_ENST00000560262.1_Missense_Mutation_p.V1006I			Q92859	NEO1_HUMAN	neogenin 1	1006	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACATGACTGGGTTATTGAGCC	0.408																																																	0													146.0	134.0	138.0					15																	73566202		2198	4297	6495	SO:0001583	missense	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3016G>A	15.37:g.73566202G>A	ENSP00000341198:p.Val1006Ile		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1006I	ENST00000339362.5	37	c.3016	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909852	0.72983	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.57436	0.4;0.4	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	L	0.38953	1.18	0.80722	D	1	D;B;B;P	0.62365	0.991;0.026;0.059;0.605	D;B;B;B	0.75020	0.985;0.053;0.053;0.377	T	0.57745	-0.7758	10	0.30078	T	0.28	-19.3741	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1006;1006;728;1006	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	I	1006;728;1006	ENSP00000341198:V1006I;ENSP00000261908:V1006I	ENSP00000261908:V1006I	V	+	1	0	NEO1	71353255	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GTT	NEO1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000067141		0.408	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	-	0.00	45	0	G	NM_002499		73566202	+1	tier1	-	no_errors	ENST00000261908	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A
NEO1	4756	genome.wustl.edu	37	15	73566202	73566202	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:73566202G>A	ENST00000339362.5	+	21	3463	c.3016G>A	c.(3016-3018)Gtt>Att	p.V1006I	NEO1_ENST00000261908.6_Missense_Mutation_p.V1006I|NEO1_ENST00000558964.1_Missense_Mutation_p.V1006I|NEO1_ENST00000560262.1_Missense_Mutation_p.V1006I			Q92859	NEO1_HUMAN	neogenin 1	1006	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACATGACTGGGTTATTGAGCC	0.408																																																	0													146.0	134.0	138.0					15																	73566202		2198	4297	6495	SO:0001583	missense	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3016G>A	15.37:g.73566202G>A	ENSP00000341198:p.Val1006Ile		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1006I	ENST00000339362.5	37	c.3016	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909852	0.72983	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.57436	0.4;0.4	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	L	0.38953	1.18	0.80722	D	1	D;B;B;P	0.62365	0.991;0.026;0.059;0.605	D;B;B;B	0.75020	0.985;0.053;0.053;0.377	T	0.57745	-0.7758	10	0.30078	T	0.28	-19.3741	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1006;1006;728;1006	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	I	1006;728;1006	ENSP00000341198:V1006I;ENSP00000261908:V1006I	ENSP00000261908:V1006I	V	+	1	0	NEO1	71353255	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GTT	NEO1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000067141		0.408	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	-	0.00	68	0	G	NM_002499		73566202	+1	tier1	-	no_errors	ENST00000261908	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A
NEO1	4756	genome.wustl.edu	37	15	73580673	73580673	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:73580673T>A	ENST00000339362.5	+	25	3877	c.3430T>A	c.(3430-3432)Tca>Aca	p.S1144T	NEO1_ENST00000261908.6_Missense_Mutation_p.S1144T|NEO1_ENST00000558964.1_Missense_Mutation_p.S1133T|NEO1_ENST00000560262.1_Missense_Mutation_p.S1144T			Q92859	NEO1_HUMAN	neogenin 1	1144					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGCCTGCAAATCAGTGAATGG	0.408																																																	0													106.0	111.0	109.0					15																	73580673		2198	4297	6495	SO:0001583	missense	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3430T>A	15.37:g.73580673T>A	ENSP00000341198:p.Ser1144Thr		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1144T	ENST00000339362.5	37	c.3430	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153003	0.78001	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.58060	0.36;0.36	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	L	0.38175	1.15	0.80722	D	1	D;B;D;D	0.67145	0.996;0.264;0.992;0.986	P;B;P;P	0.60286	0.872;0.258;0.82;0.82	T	0.56288	-0.8004	10	0.31617	T	0.26	-15.9309	15.6369	0.76961	0.0:0.0:0.0:1.0	.	1144;1133;855;1144	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	T	1144;855;1144	ENSP00000341198:S1144T;ENSP00000261908:S1144T	ENSP00000261908:S1144T	S	+	1	0	NEO1	71367726	1.000000	0.71417	0.933000	0.37362	0.767000	0.43475	7.698000	0.84413	2.097000	0.63578	0.459000	0.35465	TCA	NEO1	-	pfam_Neogenin_C	ENSG00000067141		0.408	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	-	0.00	94	0	T	NM_002499		73580673	+1	tier1	-	no_errors	ENST00000261908	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	A
NEO1	4756	genome.wustl.edu	37	15	73580673	73580673	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:73580673T>A	ENST00000339362.5	+	25	3877	c.3430T>A	c.(3430-3432)Tca>Aca	p.S1144T	NEO1_ENST00000261908.6_Missense_Mutation_p.S1144T|NEO1_ENST00000558964.1_Missense_Mutation_p.S1133T|NEO1_ENST00000560262.1_Missense_Mutation_p.S1144T			Q92859	NEO1_HUMAN	neogenin 1	1144					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGCCTGCAAATCAGTGAATGG	0.408																																																	0													106.0	111.0	109.0					15																	73580673		2198	4297	6495	SO:0001583	missense	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3430T>A	15.37:g.73580673T>A	ENSP00000341198:p.Ser1144Thr		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1144T	ENST00000339362.5	37	c.3430	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153003	0.78001	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.58060	0.36;0.36	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	L	0.38175	1.15	0.80722	D	1	D;B;D;D	0.67145	0.996;0.264;0.992;0.986	P;B;P;P	0.60286	0.872;0.258;0.82;0.82	T	0.56288	-0.8004	10	0.31617	T	0.26	-15.9309	15.6369	0.76961	0.0:0.0:0.0:1.0	.	1144;1133;855;1144	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	T	1144;855;1144	ENSP00000341198:S1144T;ENSP00000261908:S1144T	ENSP00000261908:S1144T	S	+	1	0	NEO1	71367726	1.000000	0.71417	0.933000	0.37362	0.767000	0.43475	7.698000	0.84413	2.097000	0.63578	0.459000	0.35465	TCA	NEO1	-	pfam_Neogenin_C	ENSG00000067141		0.408	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	-	0.00	95	0	T	NM_002499		73580673	+1	tier1	-	no_errors	ENST00000261908	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	A
NEUROD4	58158	genome.wustl.edu	37	12	55420233	55420233	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:55420233A>C	ENST00000242994.3	+	2	388	c.10A>C	c.(10-12)Act>Cct	p.T4P		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	4					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AATGTCAAAAACTTTTGTAAA	0.378																																																	0													52.0	55.0	54.0					12																	55420233		2203	4300	6503	SO:0001583	missense	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.10A>C	12.37:g.55420233A>C	ENSP00000242994:p.Thr4Pro		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.T4P	ENST00000242994.3	37	c.10	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	A	0.131	-1.113994	0.01799	.	.	ENSG00000123307	ENST00000242994	D	0.95205	-3.64	5.25	-4.75	0.03239	.	0.681915	0.14581	N	0.310855	T	0.81503	0.4836	N	0.10874	0.06	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.69599	-0.5102	10	0.38643	T	0.18	4.0E-4	0.8796	0.01231	0.2364:0.1269:0.295:0.3417	.	4	Q9HD90	NDF4_HUMAN	P	4	ENSP00000242994:T4P	ENSP00000242994:T4P	T	+	1	0	NEUROD4	53706500	0.011000	0.17503	0.157000	0.22605	0.163000	0.22366	0.265000	0.18515	-0.827000	0.04278	-0.911000	0.02809	ACT	NEUROD4	-	pirsf_TF_bHLH_NeuroD	ENSG00000123307		0.378	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	-	0.00	123	0	A			55420233	+1	tier1	-	no_errors	ENST00000242994	ensembl	human	known	74_37	missense	26.17	79	28	SNP	0.166	C
NEUROD4	58158	genome.wustl.edu	37	12	55420233	55420233	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:55420233A>C	ENST00000242994.3	+	2	388	c.10A>C	c.(10-12)Act>Cct	p.T4P		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	4					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AATGTCAAAAACTTTTGTAAA	0.378																																																	0													52.0	55.0	54.0					12																	55420233		2203	4300	6503	SO:0001583	missense	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.10A>C	12.37:g.55420233A>C	ENSP00000242994:p.Thr4Pro		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.T4P	ENST00000242994.3	37	c.10	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	A	0.131	-1.113994	0.01799	.	.	ENSG00000123307	ENST00000242994	D	0.95205	-3.64	5.25	-4.75	0.03239	.	0.681915	0.14581	N	0.310855	T	0.81503	0.4836	N	0.10874	0.06	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.69599	-0.5102	10	0.38643	T	0.18	4.0E-4	0.8796	0.01231	0.2364:0.1269:0.295:0.3417	.	4	Q9HD90	NDF4_HUMAN	P	4	ENSP00000242994:T4P	ENSP00000242994:T4P	T	+	1	0	NEUROD4	53706500	0.011000	0.17503	0.157000	0.22605	0.163000	0.22366	0.265000	0.18515	-0.827000	0.04278	-0.911000	0.02809	ACT	NEUROD4	-	pirsf_TF_bHLH_NeuroD	ENSG00000123307		0.378	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	-	0.00	77	0	A			55420233	+1	tier1	-	no_errors	ENST00000242994	ensembl	human	known	74_37	missense	26.17	79	28	SNP	0.166	C
NFIB	4781	genome.wustl.edu	37	9	14125636	14125636	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:14125636T>A	ENST00000380959.3	-	7	1528	c.1055A>T	c.(1054-1056)cAc>cTc	p.H352L	NFIB_ENST00000397575.3_Missense_Mutation_p.H352L|NFIB_ENST00000397581.2_Missense_Mutation_p.H352L|NFIB_ENST00000543693.1_Missense_Mutation_p.H100L|NFIB_ENST00000397579.2_Missense_Mutation_p.H352L|NFIB_ENST00000380953.1_Missense_Mutation_p.H352L|NFIB_ENST00000380934.4_Missense_Mutation_p.H378L|NFIB_ENST00000380924.1_Missense_Mutation_p.H100L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	352					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CTCACCACTGTGTGCAACTCC	0.507			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)			Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	0													162.0	153.0	156.0					9																	14125636		2203	4300	6503	SO:0001583	missense	0			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.1055A>T	9.37:g.14125636T>A	ENSP00000370346:p.His352Leu		G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.H352L	ENST00000380959.3	37	c.1055	CCDS6474.1	9	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749903	0.89753	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.7	5.7	0.88788	.	0.046833	0.85682	D	0.000000	T	0.60971	0.2310	L	0.46157	1.445	0.58432	D	0.999998	D;P;D;P	0.58268	0.982;0.911;0.982;0.89	P;B;P;D	0.64237	0.757;0.382;0.757;0.923	T	0.61569	-0.7036	10	0.52906	T	0.07	.	15.9724	0.80031	0.0:0.0:0.0:1.0	.	352;352;352;100	Q5VW27;Q5VW29;O00712;G3V1P1	.;.;NFIB_HUMAN;.	L	378;352;352;352;352;352;100;100	ENSP00000370321:H378L;ENSP00000370346:H352L;ENSP00000370340:H352L;ENSP00000380705:H352L;ENSP00000380711:H352L;ENSP00000380709:H352L;ENSP00000442888:H100L;ENSP00000370311:H100L	ENSP00000370311:H100L	H	-	2	0	NFIB	14115636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.630000	0.67805	2.175000	0.68902	0.477000	0.44152	CAC	NFIB	-	pfam_CTF/NFI	ENSG00000147862		0.507	NFIB-001	KNOWN	basic|CCDS	protein_coding	NFIB	HGNC	protein_coding	OTTHUMT00000055468.1	-	0.00	146	0	T	NM_005596		14125636	-1	tier1	-	no_errors	ENST00000397581	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A
NFIB	4781	genome.wustl.edu	37	9	14125636	14125636	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:14125636T>A	ENST00000380959.3	-	7	1528	c.1055A>T	c.(1054-1056)cAc>cTc	p.H352L	NFIB_ENST00000397575.3_Missense_Mutation_p.H352L|NFIB_ENST00000397581.2_Missense_Mutation_p.H352L|NFIB_ENST00000543693.1_Missense_Mutation_p.H100L|NFIB_ENST00000397579.2_Missense_Mutation_p.H352L|NFIB_ENST00000380953.1_Missense_Mutation_p.H352L|NFIB_ENST00000380934.4_Missense_Mutation_p.H378L|NFIB_ENST00000380924.1_Missense_Mutation_p.H100L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	352					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CTCACCACTGTGTGCAACTCC	0.507			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)			Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	0													162.0	153.0	156.0					9																	14125636		2203	4300	6503	SO:0001583	missense	0			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.1055A>T	9.37:g.14125636T>A	ENSP00000370346:p.His352Leu		G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.H352L	ENST00000380959.3	37	c.1055	CCDS6474.1	9	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749903	0.89753	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.7	5.7	0.88788	.	0.046833	0.85682	D	0.000000	T	0.60971	0.2310	L	0.46157	1.445	0.58432	D	0.999998	D;P;D;P	0.58268	0.982;0.911;0.982;0.89	P;B;P;D	0.64237	0.757;0.382;0.757;0.923	T	0.61569	-0.7036	10	0.52906	T	0.07	.	15.9724	0.80031	0.0:0.0:0.0:1.0	.	352;352;352;100	Q5VW27;Q5VW29;O00712;G3V1P1	.;.;NFIB_HUMAN;.	L	378;352;352;352;352;352;100;100	ENSP00000370321:H378L;ENSP00000370346:H352L;ENSP00000370340:H352L;ENSP00000380705:H352L;ENSP00000380711:H352L;ENSP00000380709:H352L;ENSP00000442888:H100L;ENSP00000370311:H100L	ENSP00000370311:H100L	H	-	2	0	NFIB	14115636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.630000	0.67805	2.175000	0.68902	0.477000	0.44152	CAC	NFIB	-	pfam_CTF/NFI	ENSG00000147862		0.507	NFIB-001	KNOWN	basic|CCDS	protein_coding	NFIB	HGNC	protein_coding	OTTHUMT00000055468.1	-	0.00	89	0	T	NM_005596		14125636	-1	tier1	-	no_errors	ENST00000397581	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A
NFXL1	152518	genome.wustl.edu	37	4	47857176	47857176	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:47857176G>T	ENST00000507489.1	-	20	2497	c.2321C>A	c.(2320-2322)cCt>cAt	p.P774H	NFXL1_ENST00000381538.3_Missense_Mutation_p.P774H	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	774						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ATGACCACAAGGAAGCTAAAA	0.353																																																	0													91.0	88.0	89.0					4																	47857176		2203	4297	6500	SO:0001583	missense	0			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2321C>A	4.37:g.47857176G>T	ENSP00000422037:p.Pro774His		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.P774H	ENST00000507489.1	37	c.2321	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976649	0.74360	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.29142	1.58;1.58	5.9	5.9	0.94986	.	0.293497	0.34314	N	0.004077	T	0.50446	0.1616	M	0.75884	2.315	0.80722	D	1	D	0.54397	0.966	P	0.52672	0.706	T	0.45264	-0.9273	10	0.46703	T	0.11	-14.0287	19.9278	0.97110	0.0:0.0:1.0:0.0	.	774	Q6ZNB6	NFXL1_HUMAN	H	774	ENSP00000370949:P774H;ENSP00000422037:P774H	ENSP00000370949:P774H	P	-	2	0	NFXL1	47551933	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.586000	0.67503	2.817000	0.96982	0.479000	0.44913	CCT	NFXL1	-	NULL	ENSG00000170448		0.353	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1	-	0.00	36	0	G	NM_152995		47857176	-1	tier1	-	no_errors	ENST00000381538	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
NHS	4810	genome.wustl.edu	37	X	17746822	17746822	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:17746822G>T	ENST00000380060.3	+	7	4551	c.4213G>T	c.(4213-4215)Gct>Tct	p.A1405S	NHS_ENST00000398097.3_Missense_Mutation_p.A1249S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1426					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGACTCCCAAGCTGAAGCAGA	0.438																																																	0													104.0	93.0	97.0					X																	17746822		2203	4300	6503	SO:0001583	missense	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4213G>T	X.37:g.17746822G>T	ENSP00000369400:p.Ala1405Ser		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.A1405S	ENST00000380060.3	37	c.4213	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353349	0.41700	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.44881	0.91;0.91	6.06	4.31	0.51392	.	0.219366	0.47455	D	0.000238	T	0.35219	0.0924	M	0.62723	1.935	0.40950	D	0.984532	P;P;P;B	0.41848	0.763;0.763;0.763;0.096	B;B;B;B	0.37144	0.242;0.242;0.242;0.076	T	0.19516	-1.0303	10	0.08381	T	0.77	-4.0978	12.1203	0.53887	0.1413:0.0:0.8587:0.0	.	1426;1247;1249;1405	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	S	1405;1249;1247	ENSP00000369400:A1405S;ENSP00000381170:A1249S	ENSP00000369397:A1247S	A	+	1	0	NHS	17656743	0.999000	0.42202	0.983000	0.44433	0.970000	0.65996	1.247000	0.32815	0.690000	0.31570	0.600000	0.82982	GCT	NHS	-	NULL	ENSG00000188158		0.438	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	-	0.00	42	0	G	NM_198270		17746822	+1	tier1	-	no_errors	ENST00000380060	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.994	T
NHSL2	340527	genome.wustl.edu	37	X	71363114	71363114	+	IGR	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:71363114A>C	ENST00000373677.1	+	0	3978				NHSL2_ENST00000540800.1_Missense_Mutation_p.K1123T			Q5HYW2	NHSL2_HUMAN	NHS-like 2											NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCAAAAGGAAGCTGCTCGGC	0.498																																																	0													47.0	41.0	43.0					X																	71363114		692	1591	2283	SO:0001628	intergenic_variant	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807		X.37:g.71363114A>C			B2RN94	Missense_Mutation	SNP	NULL	p.K1123T	ENST00000373677.1	37	c.3368		X	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077097	0.76415	.	.	ENSG00000204131	ENST00000540800	T	0.62232	0.04	5.91	5.91	0.95273	.	.	.	.	.	T	0.75774	0.3895	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77593	-0.2530	9	0.59425	D	0.04	.	13.0181	0.58771	1.0:0.0:0.0:0.0	.	1123	F5H593	.	T	1123	ENSP00000444617:K1123T	ENSP00000444617:K1123T	K	+	2	0	NHSL2	71279839	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.177000	0.94849	1.982000	0.57802	0.486000	0.48141	AAG	NHSL2	-	NULL	ENSG00000204131		0.498	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1		0.00	67	0	A	NM_001013627		71363114	+1			no_errors	ENST00000540800	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	C
NIPAL2	79815	genome.wustl.edu	37	8	99205159	99205159	+	3'UTR	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:99205159A>T	ENST00000341166.3	-	0	1482				NIPAL2_ENST00000520545.1_5'UTR|RNU6-914P_ENST00000516749.1_RNA|NIPAL2_ENST00000430223.2_3'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2							integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GCAATTTTTTAAAAAGGTGGT	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.*120T>A	8.37:g.99205159A>T			A2RTY8	RNA	SNP	-	NULL	ENST00000341166.3	37	NULL	CCDS6278.1	8																																																																																			NIPAL2	-	-	ENSG00000104361		0.428	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	NIPAL2	HGNC	protein_coding	OTTHUMT00000379677.1	-	0.00	58	0	A	NM_024759		99205159	-1	tier1	-	no_errors	ENST00000520545	ensembl	human	known	74_37	rna	10.53	51	6	SNP	0.825	T
NIPAL2	79815	genome.wustl.edu	37	8	99205159	99205159	+	3'UTR	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:99205159A>T	ENST00000341166.3	-	0	1482				NIPAL2_ENST00000520545.1_5'UTR|RNU6-914P_ENST00000516749.1_RNA|NIPAL2_ENST00000430223.2_3'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2							integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GCAATTTTTTAAAAAGGTGGT	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.*120T>A	8.37:g.99205159A>T			A2RTY8	RNA	SNP	-	NULL	ENST00000341166.3	37	NULL	CCDS6278.1	8																																																																																			NIPAL2	-	-	ENSG00000104361		0.428	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	NIPAL2	HGNC	protein_coding	OTTHUMT00000379677.1	-	0.00	89	0	A	NM_024759		99205159	-1	tier1	-	no_errors	ENST00000520545	ensembl	human	known	74_37	rna	10.53	51	6	SNP	0.825	T
NIPBL	25836	genome.wustl.edu	37	5	37006532	37006532	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:37006532C>T	ENST00000282516.8	+	17	4428	c.3929C>T	c.(3928-3930)gCt>gTt	p.A1310V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1310V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1310					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAGCGGATGCTTGTCTTACA	0.338																																																	0													124.0	116.0	118.0					5																	37006532		2203	4299	6502	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3929C>T	5.37:g.37006532C>T	ENSP00000282516:p.Ala1310Val		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A1310V	ENST00000282516.8	37	c.3929	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.483494	0.96307	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.58060	0.36;0.36	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.75136	-0.3424	10	0.56958	D	0.05	.	19.6236	0.95670	0.0:1.0:0.0:0.0	.	1310;1310	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	1310	ENSP00000282516:A1310V;ENSP00000406266:A1310V	ENSP00000282516:A1310V	A	+	2	0	NIPBL	37042289	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.460000	0.80816	2.643000	0.89663	0.555000	0.69702	GCT	NIPBL	-	NULL	ENSG00000164190		0.338	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0.00	53	0	C	NM_015384		37006532	+1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
NIPBL	25836	genome.wustl.edu	37	5	37006532	37006532	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:37006532C>T	ENST00000282516.8	+	17	4428	c.3929C>T	c.(3928-3930)gCt>gTt	p.A1310V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1310V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1310					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAGCGGATGCTTGTCTTACA	0.338																																																	0													124.0	116.0	118.0					5																	37006532		2203	4299	6502	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3929C>T	5.37:g.37006532C>T	ENSP00000282516:p.Ala1310Val		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A1310V	ENST00000282516.8	37	c.3929	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.483494	0.96307	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.58060	0.36;0.36	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.75136	-0.3424	10	0.56958	D	0.05	.	19.6236	0.95670	0.0:1.0:0.0:0.0	.	1310;1310	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	1310	ENSP00000282516:A1310V;ENSP00000406266:A1310V	ENSP00000282516:A1310V	A	+	2	0	NIPBL	37042289	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.460000	0.80816	2.643000	0.89663	0.555000	0.69702	GCT	NIPBL	-	NULL	ENSG00000164190		0.338	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0.00	96	0	C	NM_015384		37006532	+1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
NKX3-2	579	genome.wustl.edu	37	4	13544075	13544075	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:13544075C>T	ENST00000382438.5	-	2	1179	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	182	Poly-Gly.				determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.G182R(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						cccccgccgccggccccgctg	0.756																																																	1	Substitution - Missense(1)	lung(1)											6.0	7.0	6.0					4																	13544075		1312	3017	4329	SO:0001583	missense	0			AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.544G>A	4.37:g.13544075C>T	ENSP00000371875:p.Gly182Ser		Q2M2I7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G182S	ENST00000382438.5	37	c.544	CCDS3410.1	4	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251584	0.59212	.	.	ENSG00000109705	ENST00000382438	D	0.93019	-3.15	5.31	2.54	0.30619	.	0.625206	0.13419	N	0.389295	D	0.82522	0.5055	N	0.14661	0.345	0.09310	N	1	B	0.20550	0.046	B	0.11329	0.006	T	0.67284	-0.5709	10	0.09338	T	0.73	.	5.3428	0.15992	0.1624:0.665:0.0:0.1725	.	182	P78367	NKX32_HUMAN	S	182	ENSP00000371875:G182S	ENSP00000371875:G182S	G	-	1	0	NKX3-2	13153173	0.000000	0.05858	0.156000	0.22583	0.427000	0.31564	0.281000	0.18810	0.574000	0.29417	0.561000	0.74099	GGC	NKX3-2	-	NULL	ENSG00000109705		0.756	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX3-2	HGNC	protein_coding	OTTHUMT00000207317.3	-	0.00	37	0	C			13544075	-1	tier1	-	no_errors	ENST00000382438	ensembl	human	known	74_37	missense	43.75	18	14	SNP	0.015	T
NKX3-2	579	genome.wustl.edu	37	4	13544075	13544075	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:13544075C>T	ENST00000382438.5	-	2	1179	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	182	Poly-Gly.				determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.G182R(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						cccccgccgccggccccgctg	0.756																																																	1	Substitution - Missense(1)	lung(1)											6.0	7.0	6.0					4																	13544075		1312	3017	4329	SO:0001583	missense	0			AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.544G>A	4.37:g.13544075C>T	ENSP00000371875:p.Gly182Ser		Q2M2I7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G182S	ENST00000382438.5	37	c.544	CCDS3410.1	4	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251584	0.59212	.	.	ENSG00000109705	ENST00000382438	D	0.93019	-3.15	5.31	2.54	0.30619	.	0.625206	0.13419	N	0.389295	D	0.82522	0.5055	N	0.14661	0.345	0.09310	N	1	B	0.20550	0.046	B	0.11329	0.006	T	0.67284	-0.5709	10	0.09338	T	0.73	.	5.3428	0.15992	0.1624:0.665:0.0:0.1725	.	182	P78367	NKX32_HUMAN	S	182	ENSP00000371875:G182S	ENSP00000371875:G182S	G	-	1	0	NKX3-2	13153173	0.000000	0.05858	0.156000	0.22583	0.427000	0.31564	0.281000	0.18810	0.574000	0.29417	0.561000	0.74099	GGC	NKX3-2	-	NULL	ENSG00000109705		0.756	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX3-2	HGNC	protein_coding	OTTHUMT00000207317.3	-	0.00	45	0	C			13544075	-1	tier1	-	no_errors	ENST00000382438	ensembl	human	known	74_37	missense	43.75	18	14	SNP	0.015	T
NLRP13	126204	genome.wustl.edu	37	19	56443411	56443411	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:56443411G>T	ENST00000342929.3	-	1	266	c.267C>A	c.(265-267)ttC>ttA	p.F89L	NLRP13_ENST00000588751.1_Missense_Mutation_p.F89L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	89	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)	p.F89F(2)|p.F89L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCATTGTCTGGAAGATGCCGA	0.507																																																	3	Substitution - coding silent(2)|Substitution - Missense(1)	skin(2)|lung(1)											64.0	58.0	60.0					19																	56443411		2203	4300	6503	SO:0001583	missense	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.267C>A	19.37:g.56443411G>T	ENSP00000343891:p.Phe89Leu		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F89L	ENST00000342929.3	37	c.267	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012110	0.35511	.	.	ENSG00000173572	ENST00000342929	T	0.61742	0.08	1.97	-3.94	0.04130	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.44787	0.1310	L	0.46670	1.46	0.09310	N	1	B	0.29909	0.261	B	0.33392	0.163	T	0.39722	-0.9600	9	0.46703	T	0.11	.	4.9398	0.13960	0.2277:0.1964:0.5759:0.0	.	89	Q86W25	NAL13_HUMAN	L	89	ENSP00000343891:F89L	ENSP00000343891:F89L	F	-	3	2	NLRP13	61135223	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.504000	0.02275	-1.142000	0.02869	0.591000	0.81541	TTC	NLRP13	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000173572		0.507	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1		0.00	58	0	G	NM_176810		56443411	-1			no_errors	ENST00000342929	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	T
NME8	51314	genome.wustl.edu	37	7	37890011	37890011	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:37890011A>T	ENST00000199447.4	+	4	437	c.65A>T	c.(64-66)gAg>gTg	p.E22V	NME8_ENST00000440017.1_Missense_Mutation_p.E22V|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	22	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CTGTGGGATGAGATGTTGCAG	0.488																																																	0													171.0	171.0	171.0					7																	37890011		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.65A>T	7.37:g.37890011A>T	ENSP00000199447:p.Glu22Val		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.E22V	ENST00000199447.4	37	c.65	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	A	18.40	3.614813	0.66672	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.03801	3.8;3.8	5.12	5.12	0.69794	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.53938	D	0.000050	T	0.22205	0.0535	M	0.89287	3.02	0.42996	D	0.994506	D	0.62365	0.991	P	0.61722	0.893	T	0.02202	-1.1196	10	0.54805	T	0.06	-16.0855	12.4753	0.55809	1.0:0.0:0.0:0.0	.	22	Q8N427	TXND3_HUMAN	V	22	ENSP00000199447:E22V;ENSP00000397063:E22V	ENSP00000199447:E22V	E	+	2	0	TXNDC3	37856536	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	4.087000	0.57671	1.941000	0.56285	0.459000	0.35465	GAG	NME8	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000086288		0.488	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0.00	80	0	A	NM_016616		37890011	+1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	missense	32.95	58	29	SNP	1.000	T
NME8	51314	genome.wustl.edu	37	7	37890011	37890011	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:37890011A>T	ENST00000199447.4	+	4	437	c.65A>T	c.(64-66)gAg>gTg	p.E22V	NME8_ENST00000440017.1_Missense_Mutation_p.E22V|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	22	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CTGTGGGATGAGATGTTGCAG	0.488																																																	0													171.0	171.0	171.0					7																	37890011		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.65A>T	7.37:g.37890011A>T	ENSP00000199447:p.Glu22Val		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.E22V	ENST00000199447.4	37	c.65	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	A	18.40	3.614813	0.66672	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.03801	3.8;3.8	5.12	5.12	0.69794	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.53938	D	0.000050	T	0.22205	0.0535	M	0.89287	3.02	0.42996	D	0.994506	D	0.62365	0.991	P	0.61722	0.893	T	0.02202	-1.1196	10	0.54805	T	0.06	-16.0855	12.4753	0.55809	1.0:0.0:0.0:0.0	.	22	Q8N427	TXND3_HUMAN	V	22	ENSP00000199447:E22V;ENSP00000397063:E22V	ENSP00000199447:E22V	E	+	2	0	TXNDC3	37856536	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	4.087000	0.57671	1.941000	0.56285	0.459000	0.35465	GAG	NME8	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000086288		0.488	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0.00	97	0	A	NM_016616		37890011	+1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	missense	32.95	58	29	SNP	1.000	T
NOMO2	283820	genome.wustl.edu	37	16	18549921	18549921	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:18549921G>T	ENST00000381474.3	-	11	1212	c.1147C>A	c.(1147-1149)Cac>Aac	p.H383N	NOMO2_ENST00000330537.6_Missense_Mutation_p.H383N|NOMO2_ENST00000543392.1_Missense_Mutation_p.H216N	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	383						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						AAGTAGAGGTGCTCTTTCTGA	0.443																																																	0													75.0	54.0	60.0					16																	18549921		1581	3254	4835	SO:0001583	missense	0			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1147C>A	16.37:g.18549921G>T	ENSP00000370883:p.His383Asn		Q4G177	Missense_Mutation	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.H383N	ENST00000381474.3	37	c.1147	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	10.67	1.414107	0.25465	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.39787	1.06;1.06;1.06	2.57	2.57	0.30868	Carbohydrate-binding-like fold (1);Domain of unknown function DUF2012 (1);Carboxypeptidase, regulatory domain (1);	0.134559	0.50627	D	0.000115	T	0.36248	0.0960	L	0.43152	1.355	0.47511	D	0.999443	B;B	0.28470	0.101;0.213	B;B	0.35182	0.062;0.197	T	0.15752	-1.0426	10	0.22706	T	0.39	-14.1739	12.4834	0.55856	0.0:0.0:1.0:0.0	.	216;383	Q4G177;Q5JPE7	.;NOMO2_HUMAN	N	383;383;216	ENSP00000331851:H383N;ENSP00000370883:H383N;ENSP00000439970:H216N	ENSP00000331851:H383N	H	-	1	0	NOMO2	18457422	1.000000	0.71417	0.977000	0.42913	0.786000	0.44442	9.198000	0.94994	1.416000	0.47057	0.400000	0.26472	CAC	NOMO2	-	pfam_DUF2012,superfamily_Carb-bd-like_fold	ENSG00000185164		0.443	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1		0.00	162	0	G	NM_001004060		18549921	-1			no_errors	ENST00000381474	ensembl	human	known	74_37	missense	8.00	91	8	SNP	1.000	T
NOP16	51491	genome.wustl.edu	37	5	175813851	175813851	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:175813851A>T	ENST00000389158.5	-	3	711	c.276T>A	c.(274-276)taT>taA	p.Y92*	NOP16_ENST00000509257.1_Nonsense_Mutation_p.Y92*|NOP16_ENST00000510123.1_Nonsense_Mutation_p.Y92*|NOP16_ENST00000507413.1_Intron|HIGD2A_ENST00000274787.2_5'Flank			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	92						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CATTCAGCACATAGGGCTTCC	0.512																																																	0													137.0	139.0	138.0					5																	175813851		1999	4164	6163	SO:0001587	stop_gained	0				CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.276T>A	5.37:g.175813851A>T	ENSP00000373810:p.Tyr92*		B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Nonsense_Mutation	SNP	pfam_Ribosome_biogenesis_Nop16	p.Y92*	ENST00000389158.5	37	c.276	CCDS43403.1	5	.	.	.	.	.	.	.	.	.	.	A	38	6.848487	0.97885	.	.	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000341213;ENST00000451293;ENST00000509257	.	.	.	5.88	3.54	0.40534	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0289	0.19669	0.7477:0.0:0.2523:0.0	.	.	.	.	X	92;92;67;92;92	.	ENSP00000340662:Y67X	Y	-	3	2	NOP16	175746457	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.291000	0.33330	1.059000	0.40554	0.533000	0.62120	TAT	NOP16	-	pfam_Ribosome_biogenesis_Nop16	ENSG00000048162		0.512	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP16	HGNC	protein_coding	OTTHUMT00000371963.1	-	0.00	120	0	A	NM_016391		175813851	-1	tier1	-	no_errors	ENST00000389158	ensembl	human	known	74_37	nonsense	30.00	35	15	SNP	1.000	T
NOP16	51491	genome.wustl.edu	37	5	175813851	175813851	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:175813851A>T	ENST00000389158.5	-	3	711	c.276T>A	c.(274-276)taT>taA	p.Y92*	NOP16_ENST00000509257.1_Nonsense_Mutation_p.Y92*|NOP16_ENST00000510123.1_Nonsense_Mutation_p.Y92*|NOP16_ENST00000507413.1_Intron|HIGD2A_ENST00000274787.2_5'Flank			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	92						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CATTCAGCACATAGGGCTTCC	0.512																																																	0													137.0	139.0	138.0					5																	175813851		1999	4164	6163	SO:0001587	stop_gained	0				CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.276T>A	5.37:g.175813851A>T	ENSP00000373810:p.Tyr92*		B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Nonsense_Mutation	SNP	pfam_Ribosome_biogenesis_Nop16	p.Y92*	ENST00000389158.5	37	c.276	CCDS43403.1	5	.	.	.	.	.	.	.	.	.	.	A	38	6.848487	0.97885	.	.	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000341213;ENST00000451293;ENST00000509257	.	.	.	5.88	3.54	0.40534	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0289	0.19669	0.7477:0.0:0.2523:0.0	.	.	.	.	X	92;92;67;92;92	.	ENSP00000340662:Y67X	Y	-	3	2	NOP16	175746457	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.291000	0.33330	1.059000	0.40554	0.533000	0.62120	TAT	NOP16	-	pfam_Ribosome_biogenesis_Nop16	ENSG00000048162		0.512	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP16	HGNC	protein_coding	OTTHUMT00000371963.1	-	0.00	75	0	A	NM_016391		175813851	-1	tier1	-	no_errors	ENST00000389158	ensembl	human	known	74_37	nonsense	30.00	35	15	SNP	1.000	T
NOTO	344022	genome.wustl.edu	37	2	73435556	73435556	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:73435556C>A	ENST00000398468.3	+	2	820	c.411C>A	c.(409-411)ctC>ctA	p.L137L		NM_001134462.1	NP_001127934.1	A8MTQ0	NOTO_HUMAN	notochord homeobox	137					cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|notochord development (GO:0030903)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)	2						GCTCAGGACTCTGGGCCTTCC	0.577																																																	0													92.0	85.0	87.0					2																	73435556		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS46335.1	2p13.2	2011-06-20	2007-02-15		ENSG00000214513	ENSG00000214513		"""Homeoboxes / ANTP class : NKL subclass"""	31839	protein-coding gene	gene with protein product			"""notochord homolog (Xenopus laevis)"""			15231714	Standard	NM_001134462		Approved		uc010yrd.2	A8MTQ0	OTTHUMG00000164128	ENST00000398468.3:c.411C>A	2.37:g.73435556C>A			B4DJ59|B7ZAU5	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L137	ENST00000398468.3	37	c.411	CCDS46335.1	2																																																																																			NOTO	-	superfamily_Homeodomain-like	ENSG00000214513		0.577	NOTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTO	HGNC	protein_coding	OTTHUMT00000377385.2	-	0.00	69	0	C	XM_292889		73435556	+1	tier1	-	no_errors	ENST00000398468	ensembl	human	known	74_37	silent	18.87	43	10	SNP	0.027	A
NOSTRIN	115677	genome.wustl.edu	37	2	169707381	169707381	+	Intron	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:169707381C>G	ENST00000317647.7	+	9	859				NOSTRIN_ENST00000421711.2_Intron|NOSTRIN_ENST00000397206.2_Intron|NOSTRIN_ENST00000445023.2_Intron|NOSTRIN_ENST00000397209.2_Intron|NOSTRIN_ENST00000444448.2_Silent_p.V222V|NOSTRIN_ENST00000458381.2_Silent_p.V222V	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking						endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CCTTTTGGGTCAAAAGAGCCT	0.428																																																	0													156.0	131.0	139.0					2																	169707381		692	1591	2283	SO:0001627	intron_variant	0			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.631-213C>G	2.37:g.169707381C>G			A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.V222	ENST00000317647.7	37	c.666	CCDS42771.1	2																																																																																			NOSTRIN	-	NULL	ENSG00000163072		0.428	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOSTRIN	HGNC	protein_coding	OTTHUMT00000333356.4	-	0.00	37	0	C	NM_052946		169707381	+1	tier1	-	no_errors	ENST00000444448	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.001	G
NOSTRIN	115677	genome.wustl.edu	37	2	169707381	169707381	+	Intron	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:169707381C>G	ENST00000317647.7	+	9	859				NOSTRIN_ENST00000421711.2_Intron|NOSTRIN_ENST00000397206.2_Intron|NOSTRIN_ENST00000445023.2_Intron|NOSTRIN_ENST00000397209.2_Intron|NOSTRIN_ENST00000444448.2_Silent_p.V222V|NOSTRIN_ENST00000458381.2_Silent_p.V222V	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking						endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CCTTTTGGGTCAAAAGAGCCT	0.428																																																	0													156.0	131.0	139.0					2																	169707381		692	1591	2283	SO:0001627	intron_variant	0			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.631-213C>G	2.37:g.169707381C>G			A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.V222	ENST00000317647.7	37	c.666	CCDS42771.1	2																																																																																			NOSTRIN	-	NULL	ENSG00000163072		0.428	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOSTRIN	HGNC	protein_coding	OTTHUMT00000333356.4	-	0.00	46	0	C	NM_052946		169707381	+1	tier1	-	no_errors	ENST00000444448	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.001	G
NPL	80896	genome.wustl.edu	37	1	182787987	182787987	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:182787987G>T	ENST00000367553.1	+	9	690	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	NPL_ENST00000367555.1_Intron|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367554.3_Missense_Mutation_p.V197L|NPL_ENST00000367552.2_Intron|NPL_ENST00000258317.2_Missense_Mutation_p.V216L	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	216					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTGGAGCAGTGGGCAGGTA	0.398																																																	0													85.0	92.0	90.0					1																	182787987		2203	4300	6503	SO:0001583	missense	0			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.646G>T	1.37:g.182787987G>T	ENSP00000356524:p.Val216Leu		B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Missense_Mutation	SNP	pfam_DapA-like,prints_DapA-like	p.V216L	ENST00000367553.1	37	c.646	CCDS1350.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.318745|4.318745	0.81469|0.81469	.|.	.|.	ENSG00000135838|ENSG00000135838	ENST00000445965|ENST00000367554;ENST00000367553;ENST00000258317	.|D;D;D	.|0.95588	.|-3.75;-3.75;-3.75	5.48|5.48	4.56|4.56	0.56223|0.56223	.|Aldolase-type TIM barrel (1);	.|0.060951	.|0.64402	.|D	.|0.000004	D|D	0.96256|0.96256	0.8779|0.8779	M|M	0.72894|0.72894	2.215|2.215	0.49213|0.49213	D|D	0.999765|0.999765	.|P;D;P	.|0.63046	.|0.833;0.992;0.953	.|P;P;P	.|0.56474	.|0.457;0.799;0.548	D|D	0.96123|0.96123	0.9086|0.9086	6|10	0.87932|0.72032	D|D	0|0.01	-7.4694|-7.4694	12.5447|12.5447	0.56193|0.56193	0.0795:0.0:0.9205:0.0|0.0795:0.0:0.9205:0.0	.|.	.|216;216;197	.|Q9BXD5;Q9BXD5-3;Q9BXD5-2	.|NPL_HUMAN;.;.	I|L	131|197;216;216	.|ENSP00000356525:V197L;ENSP00000356524:V216L;ENSP00000258317:V216L	ENSP00000414118:S131I|ENSP00000258317:V216L	S|V	+|+	2|1	0|0	NPL|NPL	181054610|181054610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.505000|5.505000	0.66981|0.66981	2.561000|2.561000	0.86390|0.86390	0.655000|0.655000	0.94253|0.94253	AGT|GTG	NPL	-	pfam_DapA-like	ENSG00000135838		0.398	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPL	HGNC	protein_coding	OTTHUMT00000085463.1	-	0.00	28	0	G	NM_030769		182787987	+1	tier1	-	no_errors	ENST00000258317	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
NPL	80896	genome.wustl.edu	37	1	182787987	182787987	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:182787987G>T	ENST00000367553.1	+	9	690	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	NPL_ENST00000367555.1_Intron|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367554.3_Missense_Mutation_p.V197L|NPL_ENST00000367552.2_Intron|NPL_ENST00000258317.2_Missense_Mutation_p.V216L	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	216					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTGGAGCAGTGGGCAGGTA	0.398																																																	0													85.0	92.0	90.0					1																	182787987		2203	4300	6503	SO:0001583	missense	0			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.646G>T	1.37:g.182787987G>T	ENSP00000356524:p.Val216Leu		B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Missense_Mutation	SNP	pfam_DapA-like,prints_DapA-like	p.V216L	ENST00000367553.1	37	c.646	CCDS1350.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.318745|4.318745	0.81469|0.81469	.|.	.|.	ENSG00000135838|ENSG00000135838	ENST00000445965|ENST00000367554;ENST00000367553;ENST00000258317	.|D;D;D	.|0.95588	.|-3.75;-3.75;-3.75	5.48|5.48	4.56|4.56	0.56223|0.56223	.|Aldolase-type TIM barrel (1);	.|0.060951	.|0.64402	.|D	.|0.000004	D|D	0.96256|0.96256	0.8779|0.8779	M|M	0.72894|0.72894	2.215|2.215	0.49213|0.49213	D|D	0.999765|0.999765	.|P;D;P	.|0.63046	.|0.833;0.992;0.953	.|P;P;P	.|0.56474	.|0.457;0.799;0.548	D|D	0.96123|0.96123	0.9086|0.9086	6|10	0.87932|0.72032	D|D	0|0.01	-7.4694|-7.4694	12.5447|12.5447	0.56193|0.56193	0.0795:0.0:0.9205:0.0|0.0795:0.0:0.9205:0.0	.|.	.|216;216;197	.|Q9BXD5;Q9BXD5-3;Q9BXD5-2	.|NPL_HUMAN;.;.	I|L	131|197;216;216	.|ENSP00000356525:V197L;ENSP00000356524:V216L;ENSP00000258317:V216L	ENSP00000414118:S131I|ENSP00000258317:V216L	S|V	+|+	2|1	0|0	NPL|NPL	181054610|181054610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.505000|5.505000	0.66981|0.66981	2.561000|2.561000	0.86390|0.86390	0.655000|0.655000	0.94253|0.94253	AGT|GTG	NPL	-	pfam_DapA-like	ENSG00000135838		0.398	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPL	HGNC	protein_coding	OTTHUMT00000085463.1	-	0.00	60	0	G	NM_030769		182787987	+1	tier1	-	no_errors	ENST00000258317	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
NR4A3	8013	genome.wustl.edu	37	9	102625911	102625911	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:102625911G>T	ENST00000395097.2	+	8	2372	c.1643G>T	c.(1642-1644)gGg>gTg	p.G548V	NR4A3_ENST00000330847.1_Missense_Mutation_p.G559V	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	548					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAAAGACATGGGTTAAAAGAA	0.453			T	EWSR1	extraskeletal myxoid chondrosarcoma																																			Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	0													74.0	69.0	71.0					9																	102625911		2203	4300	6503	SO:0001583	missense	0			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1643G>T	9.37:g.102625911G>T	ENSP00000378531:p.Gly548Val		A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.G559V	ENST00000395097.2	37	c.1676	CCDS6743.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.063406	0.93898	.	.	ENSG00000119508	ENST00000395097;ENST00000330847	T;T	0.60797	0.16;0.16	6.11	6.11	0.99139	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.81786	0.4896	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.83441	0.0043	10	0.87932	D	0	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	559;548	Q92570-3;Q92570	.;NR4A3_HUMAN	V	548;559	ENSP00000378531:G548V;ENSP00000333122:G559V	ENSP00000333122:G559V	G	+	2	0	NR4A3	101665732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.906000	0.99361	0.655000	0.94253	GGG	NR4A3	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt	ENSG00000119508		0.453	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A3	HGNC	protein_coding	OTTHUMT00000055482.1	-	0.00	41	0	G			102625911	+1	tier1	-	no_errors	ENST00000330847	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T
NR4A3	8013	genome.wustl.edu	37	9	102625911	102625911	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:102625911G>T	ENST00000395097.2	+	8	2372	c.1643G>T	c.(1642-1644)gGg>gTg	p.G548V	NR4A3_ENST00000330847.1_Missense_Mutation_p.G559V	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	548					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAAAGACATGGGTTAAAAGAA	0.453			T	EWSR1	extraskeletal myxoid chondrosarcoma																																			Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	0													74.0	69.0	71.0					9																	102625911		2203	4300	6503	SO:0001583	missense	0			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1643G>T	9.37:g.102625911G>T	ENSP00000378531:p.Gly548Val		A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.G559V	ENST00000395097.2	37	c.1676	CCDS6743.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.063406	0.93898	.	.	ENSG00000119508	ENST00000395097;ENST00000330847	T;T	0.60797	0.16;0.16	6.11	6.11	0.99139	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.81786	0.4896	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.83441	0.0043	10	0.87932	D	0	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	559;548	Q92570-3;Q92570	.;NR4A3_HUMAN	V	548;559	ENSP00000378531:G548V;ENSP00000333122:G559V	ENSP00000333122:G559V	G	+	2	0	NR4A3	101665732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.906000	0.99361	0.655000	0.94253	GGG	NR4A3	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt	ENSG00000119508		0.453	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A3	HGNC	protein_coding	OTTHUMT00000055482.1	-	0.00	54	0	G			102625911	+1	tier1	-	no_errors	ENST00000330847	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T
NRXN1	9378	genome.wustl.edu	37	2	50779946	50779946	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:50779946G>C	ENST00000406316.2	-	9	3014	c.1538C>G	c.(1537-1539)cCa>cGa	p.P513R	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.P513R|NRXN1_ENST00000402717.3_Missense_Mutation_p.P505R|NRXN1_ENST00000405472.3_Missense_Mutation_p.P505R|NRXN1_ENST00000406859.3_Missense_Mutation_p.P513R|NRXN1_ENST00000404971.1_Missense_Mutation_p.P553R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	513	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGGCCATTTGGCTCTGTTGT	0.428																																																	0													161.0	149.0	153.0					2																	50779946		1893	4110	6003	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1538C>G	2.37:g.50779946G>C	ENSP00000384311:p.Pro513Arg		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.P505R	ENST00000406316.2	37	c.1514	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696317	0.88830	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.86408	0.1746	10	0.52906	T	0.07	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	553;513;505	Q9ULB1-3;F8WB18;A7E294	.;.;.	R	553;513;505;513;554;505;513	ENSP00000385142:P553R;ENSP00000384311:P513R;ENSP00000434015:P505R;ENSP00000385017:P513R;ENSP00000385434:P505R;ENSP00000385681:P513R	ENSP00000385017:P513R	P	-	2	0	NRXN1	50633450	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.810000	0.96702	0.585000	0.79938	CCA	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.428	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0.00	46	0	G			50779946	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	C
NRXN1	9378	genome.wustl.edu	37	2	50779946	50779946	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:50779946G>C	ENST00000406316.2	-	9	3014	c.1538C>G	c.(1537-1539)cCa>cGa	p.P513R	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.P513R|NRXN1_ENST00000402717.3_Missense_Mutation_p.P505R|NRXN1_ENST00000405472.3_Missense_Mutation_p.P505R|NRXN1_ENST00000406859.3_Missense_Mutation_p.P513R|NRXN1_ENST00000404971.1_Missense_Mutation_p.P553R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	513	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGGCCATTTGGCTCTGTTGT	0.428																																																	0													161.0	149.0	153.0					2																	50779946		1893	4110	6003	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1538C>G	2.37:g.50779946G>C	ENSP00000384311:p.Pro513Arg		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.P505R	ENST00000406316.2	37	c.1514	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696317	0.88830	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.86408	0.1746	10	0.52906	T	0.07	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	553;513;505	Q9ULB1-3;F8WB18;A7E294	.;.;.	R	553;513;505;513;554;505;513	ENSP00000385142:P553R;ENSP00000384311:P513R;ENSP00000434015:P505R;ENSP00000385017:P513R;ENSP00000385434:P505R;ENSP00000385681:P513R	ENSP00000385017:P513R	P	-	2	0	NRXN1	50633450	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.810000	0.96702	0.585000	0.79938	CCA	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.428	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0.00	57	0	G			50779946	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	C
NSA2	10412	genome.wustl.edu	37	5	74065074	74065074	+	Missense_Mutation	SNP	A	A	G	rs139165108		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:74065074A>G	ENST00000296802.5	+	3	596	c.227A>G	c.(226-228)aAg>aGg	p.K76R	NSA2_ENST00000513356.1_3'UTR|GFM2_ENST00000345239.2_5'Flank|GFM2_ENST00000427854.2_5'Flank|GFM2_ENST00000509430.1_5'Flank|GFM2_ENST00000296805.3_5'Flank	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	76	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ACCAAACAAAAGAATGATGAA	0.353																																																	0													104.0	113.0	109.0					5																	74065074		2203	4300	6503	SO:0001583	missense	0			AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.227A>G	5.37:g.74065074A>G	ENSP00000296802:p.Lys76Arg			Missense_Mutation	SNP	pfam_Ribosomal_S8e/biogenesis_NSA2	p.K76R	ENST00000296802.5	37	c.227	CCDS4025.1	5	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313800	0.60414	.	.	ENSG00000164346	ENST00000296802	T	0.47177	0.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	N	0.17838	0.53	0.80722	D	1	B	0.19331	0.035	B	0.18263	0.021	T	0.09818	-1.0657	10	0.34782	T	0.22	.	16.1432	0.81544	1.0:0.0:0.0:0.0	.	76	O95478	NSA2_HUMAN	R	76	ENSP00000296802:K76R	ENSP00000296802:K76R	K	+	2	0	NSA2	74100830	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.615000	0.90920	2.276000	0.75962	0.397000	0.26171	AAG	NSA2	-	pfam_Ribosomal_S8e/biogenesis_NSA2	ENSG00000164346		0.353	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSA2	HGNC	protein_coding	OTTHUMT00000254041.3	-	0.00	32	0	A	NM_014886		74065074	+1	tier1	-	no_errors	ENST00000296802	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	G
NSA2	10412	genome.wustl.edu	37	5	74065074	74065074	+	Missense_Mutation	SNP	A	A	G	rs139165108		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:74065074A>G	ENST00000296802.5	+	3	596	c.227A>G	c.(226-228)aAg>aGg	p.K76R	NSA2_ENST00000513356.1_3'UTR|GFM2_ENST00000345239.2_5'Flank|GFM2_ENST00000427854.2_5'Flank|GFM2_ENST00000509430.1_5'Flank|GFM2_ENST00000296805.3_5'Flank	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	76	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ACCAAACAAAAGAATGATGAA	0.353																																																	0													104.0	113.0	109.0					5																	74065074		2203	4300	6503	SO:0001583	missense	0			AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.227A>G	5.37:g.74065074A>G	ENSP00000296802:p.Lys76Arg			Missense_Mutation	SNP	pfam_Ribosomal_S8e/biogenesis_NSA2	p.K76R	ENST00000296802.5	37	c.227	CCDS4025.1	5	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313800	0.60414	.	.	ENSG00000164346	ENST00000296802	T	0.47177	0.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	N	0.17838	0.53	0.80722	D	1	B	0.19331	0.035	B	0.18263	0.021	T	0.09818	-1.0657	10	0.34782	T	0.22	.	16.1432	0.81544	1.0:0.0:0.0:0.0	.	76	O95478	NSA2_HUMAN	R	76	ENSP00000296802:K76R	ENSP00000296802:K76R	K	+	2	0	NSA2	74100830	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.615000	0.90920	2.276000	0.75962	0.397000	0.26171	AAG	NSA2	-	pfam_Ribosomal_S8e/biogenesis_NSA2	ENSG00000164346		0.353	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSA2	HGNC	protein_coding	OTTHUMT00000254041.3	-	0.00	57	0	A	NM_014886		74065074	+1	tier1	-	no_errors	ENST00000296802	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	G
NUP210	23225	genome.wustl.edu	37	3	13363225	13363225	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:13363225A>C	ENST00000254508.5	-	36	5108	c.5026T>G	c.(5026-5028)Ttc>Gtc	p.F1676V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1676					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCTGTGGAGAAGTGGCTGCTG	0.582																																																	0													141.0	142.0	142.0					3																	13363225		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5026T>G	3.37:g.13363225A>C	ENSP00000254508:p.Phe1676Val		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.F1676V	ENST00000254508.5	37	c.5026	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	A	8.056	0.766974	0.15983	.	.	ENSG00000132182	ENST00000254508	T	0.04551	3.6	5.56	0.0618	0.14342	.	0.443423	0.25984	N	0.027054	T	0.03871	0.0109	L	0.56769	1.78	0.25631	N	0.986302	B	0.16603	0.018	B	0.18871	0.023	T	0.44498	-0.9324	10	0.13470	T	0.59	-1.9439	0.7536	0.00994	0.4425:0.1287:0.1447:0.2841	.	1676	Q8TEM1	PO210_HUMAN	V	1676	ENSP00000254508:F1676V	ENSP00000254508:F1676V	F	-	1	0	NUP210	13338225	0.001000	0.12720	0.003000	0.11579	0.354000	0.29330	0.648000	0.24828	-0.218000	0.10018	0.482000	0.46254	TTC	NUP210	-	NULL	ENSG00000132182		0.582	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0.00	36	0	A	NM_024923		13363225	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.606	C
NUP210	23225	genome.wustl.edu	37	3	13363225	13363225	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:13363225A>C	ENST00000254508.5	-	36	5108	c.5026T>G	c.(5026-5028)Ttc>Gtc	p.F1676V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1676					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCTGTGGAGAAGTGGCTGCTG	0.582																																																	0													141.0	142.0	142.0					3																	13363225		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5026T>G	3.37:g.13363225A>C	ENSP00000254508:p.Phe1676Val		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.F1676V	ENST00000254508.5	37	c.5026	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	A	8.056	0.766974	0.15983	.	.	ENSG00000132182	ENST00000254508	T	0.04551	3.6	5.56	0.0618	0.14342	.	0.443423	0.25984	N	0.027054	T	0.03871	0.0109	L	0.56769	1.78	0.25631	N	0.986302	B	0.16603	0.018	B	0.18871	0.023	T	0.44498	-0.9324	10	0.13470	T	0.59	-1.9439	0.7536	0.00994	0.4425:0.1287:0.1447:0.2841	.	1676	Q8TEM1	PO210_HUMAN	V	1676	ENSP00000254508:F1676V	ENSP00000254508:F1676V	F	-	1	0	NUP210	13338225	0.001000	0.12720	0.003000	0.11579	0.354000	0.29330	0.648000	0.24828	-0.218000	0.10018	0.482000	0.46254	TTC	NUP210	-	NULL	ENSG00000132182		0.582	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0.00	52	0	A	NM_024923		13363225	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.606	C
NUP98	4928	genome.wustl.edu	37	11	3744539	3744539	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:3744539T>C	ENST00000324932.7	-	16	2414	c.1994A>G	c.(1993-1995)aAc>aGc	p.N665S	NUP98_ENST00000397007.4_Missense_Mutation_p.N682S|NUP98_ENST00000397004.4_Missense_Mutation_p.N665S|NUP98_ENST00000355260.3_Missense_Mutation_p.N665S|NUP98_ENST00000359171.4_Missense_Mutation_p.N665S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	682					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATCCACACTGTTGCTGTTGCT	0.418			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													193.0	153.0	166.0					11																	3744539		2201	4298	6499	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1994A>G	11.37:g.3744539T>C	ENSP00000316032:p.Asn665Ser		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.N665S	ENST00000324932.7	37	c.1994	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	T	0.126	-1.119328	0.01785	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	4.44	-8.88	0.00789	.	0.891822	0.09702	N	0.766871	T	0.13543	0.0328	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.001	B;B;B;B	0.12156	0.007;0.001;0.002;0.001	T	0.36696	-0.9737	9	0.02654	T	1	.	5.0251	0.14381	0.1559:0.576:0.0828:0.1852	.	682;665;665;665	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	S	665;665;665;665;682	.	ENSP00000316032:N665S	N	-	2	0	NUP98	3701115	0.000000	0.05858	0.163000	0.22734	0.624000	0.37722	-2.173000	0.01265	-1.388000	0.02092	-2.055000	0.00403	AAC	NUP98	-	NULL	ENSG00000110713		0.418	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	-	0.00	102	0	T	NM_016320		3744539	-1	tier1	-	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	16.00	42	8	SNP	0.016	C
NUP98	4928	genome.wustl.edu	37	11	3744539	3744539	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:3744539T>C	ENST00000324932.7	-	16	2414	c.1994A>G	c.(1993-1995)aAc>aGc	p.N665S	NUP98_ENST00000397007.4_Missense_Mutation_p.N682S|NUP98_ENST00000397004.4_Missense_Mutation_p.N665S|NUP98_ENST00000355260.3_Missense_Mutation_p.N665S|NUP98_ENST00000359171.4_Missense_Mutation_p.N665S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	682					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATCCACACTGTTGCTGTTGCT	0.418			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													193.0	153.0	166.0					11																	3744539		2201	4298	6499	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1994A>G	11.37:g.3744539T>C	ENSP00000316032:p.Asn665Ser		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.N665S	ENST00000324932.7	37	c.1994	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	T	0.126	-1.119328	0.01785	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	4.44	-8.88	0.00789	.	0.891822	0.09702	N	0.766871	T	0.13543	0.0328	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.001	B;B;B;B	0.12156	0.007;0.001;0.002;0.001	T	0.36696	-0.9737	9	0.02654	T	1	.	5.0251	0.14381	0.1559:0.576:0.0828:0.1852	.	682;665;665;665	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	S	665;665;665;665;682	.	ENSP00000316032:N665S	N	-	2	0	NUP98	3701115	0.000000	0.05858	0.163000	0.22734	0.624000	0.37722	-2.173000	0.01265	-1.388000	0.02092	-2.055000	0.00403	AAC	NUP98	-	NULL	ENSG00000110713		0.418	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	-	0.00	59	0	T	NM_016320		3744539	-1	tier1	-	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	16.00	42	8	SNP	0.016	C
NUSAP1	51203	genome.wustl.edu	37	15	41625228	41625228	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:41625228G>T	ENST00000559596.1	+	1	160	c.73G>T	c.(73-75)Ggt>Tgt	p.G25C	NUSAP1_ENST00000558123.1_Intron|NUSAP1_ENST00000560747.1_Missense_Mutation_p.G25C|NUSAP1_ENST00000260359.6_Missense_Mutation_p.G25C|NUSAP1_ENST00000450592.2_Missense_Mutation_p.G25C|OIP5_ENST00000220514.3_5'Flank|NUSAP1_ENST00000560177.1_Missense_Mutation_p.G25C|NUSAP1_ENST00000450318.1_Missense_Mutation_p.G25C|NUSAP1_ENST00000414849.2_Missense_Mutation_p.G25C			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	25					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CAAGAGTCTGGGTCTCCGGGC	0.647																																																	0													33.0	34.0	34.0					15																	41625228		1898	4122	6020	SO:0001583	missense	0			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.73G>T	15.37:g.41625228G>T	ENSP00000453403:p.Gly25Cys		B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	NULL	p.G25C	ENST00000559596.1	37	c.73	CCDS45234.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.086757	0.94100	.	.	ENSG00000137804	ENST00000260359;ENST00000414849;ENST00000450318;ENST00000450592	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.66524	-0.5902	10	0.87932	D	0	.	17.4736	0.87653	0.0:0.0:1.0:0.0	.	25;25;25;25;25;25;25	E7ERR5;E9PB35;Q9BXS6-3;Q9BXS6-5;A8K4B4;Q9BXS6;Q9BXS6-2	.;.;.;.;.;NUSAP_HUMAN;.	C	25	ENSP00000260359:G25C;ENSP00000400746:G25C;ENSP00000401351:G25C;ENSP00000401014:G25C	ENSP00000260359:G25C	G	+	1	0	NUSAP1	39412520	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.436000	0.66538	2.861000	0.98227	0.655000	0.94253	GGT	NUSAP1	-	NULL	ENSG00000137804		0.647	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUSAP1	HGNC	protein_coding	OTTHUMT00000419427.1		0.00	79	0	G	NM_016359		41625228	+1			no_errors	ENST00000559596	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
OAS1	4938	genome.wustl.edu	37	12	113354384	113354384	+	Missense_Mutation	SNP	G	G	C	rs56006713	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:113354384G>C	ENST00000202917.5	+	4	988	c.725G>C	c.(724-726)cGa>cCa	p.R242P	OAS1_ENST00000445409.2_Missense_Mutation_p.R242P|OAS1_ENST00000551241.1_Missense_Mutation_p.R242P|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000452357.2_Missense_Mutation_p.R242P	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	242					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCTTGGGAGCGAGGGAGCATG	0.463																																																	0													93.0	85.0	87.0					12																	113354384		2203	4300	6503	SO:0001583	missense	0			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.725G>C	12.37:g.113354384G>C	ENSP00000202917:p.Arg242Pro		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.R242P	ENST00000202917.5	37	c.725	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357684	0.41801	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.84	-9.68	0.00528	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	1.647440	0.03719	N	0.251441	T	0.59335	0.2186	M	0.74881	2.28	0.09310	N	0.999999	P;P;P;D;P	0.56521	0.723;0.861;0.629;0.976;0.926	P;P;P;P;P	0.57371	0.546;0.584;0.657;0.819;0.754	T	0.74565	-0.3623	10	0.49607	T	0.09	6.1564	19.1858	0.93644	0.849:0.0:0.151:0.0	.	242;242;242;242;242	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	P	242;242;242;242;242;238	ENSP00000202917:R242P;ENSP00000388001:R242P;ENSP00000415721:R242P;ENSP00000448790:R242P;ENSP00000448348:R238P	ENSP00000202917:R242P	R	+	2	0	OAS1	111838767	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.247000	0.00541	-3.525000	0.00147	-3.095000	0.00064	CGA	OAS1	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000089127		0.463	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	-	0.00	108	0	G			113354384	+1	tier1	-	no_errors	ENST00000445409	ensembl	human	known	74_37	missense	25.61	61	21	SNP	0.000	C
OAS1	4938	genome.wustl.edu	37	12	113354384	113354384	+	Missense_Mutation	SNP	G	G	C	rs56006713	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:113354384G>C	ENST00000202917.5	+	4	988	c.725G>C	c.(724-726)cGa>cCa	p.R242P	OAS1_ENST00000445409.2_Missense_Mutation_p.R242P|OAS1_ENST00000551241.1_Missense_Mutation_p.R242P|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000452357.2_Missense_Mutation_p.R242P	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	242					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCTTGGGAGCGAGGGAGCATG	0.463																																																	0													93.0	85.0	87.0					12																	113354384		2203	4300	6503	SO:0001583	missense	0			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.725G>C	12.37:g.113354384G>C	ENSP00000202917:p.Arg242Pro		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.R242P	ENST00000202917.5	37	c.725	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357684	0.41801	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.84	-9.68	0.00528	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	1.647440	0.03719	N	0.251441	T	0.59335	0.2186	M	0.74881	2.28	0.09310	N	0.999999	P;P;P;D;P	0.56521	0.723;0.861;0.629;0.976;0.926	P;P;P;P;P	0.57371	0.546;0.584;0.657;0.819;0.754	T	0.74565	-0.3623	10	0.49607	T	0.09	6.1564	19.1858	0.93644	0.849:0.0:0.151:0.0	.	242;242;242;242;242	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	P	242;242;242;242;242;238	ENSP00000202917:R242P;ENSP00000388001:R242P;ENSP00000415721:R242P;ENSP00000448790:R242P;ENSP00000448348:R238P	ENSP00000202917:R242P	R	+	2	0	OAS1	111838767	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.247000	0.00541	-3.525000	0.00147	-3.095000	0.00064	CGA	OAS1	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000089127		0.463	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	-	0.00	87	0	G			113354384	+1	tier1	-	no_errors	ENST00000445409	ensembl	human	known	74_37	missense	25.61	61	21	SNP	0.000	C
OAT	4942	genome.wustl.edu	37	10	126094007	126094007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:126094007C>A	ENST00000368845.5	-	5	738	c.646G>T	c.(646-648)Gag>Tag	p.E216*	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Nonsense_Mutation_p.E78*	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	216					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	TGAAATACCTCCAGTGCGGGC	0.398																																																	0													97.0	84.0	88.0					10																	126094007		2203	4300	6503	SO:0001587	stop_gained	0			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.646G>T	10.37:g.126094007C>A	ENSP00000357838:p.Glu216*		D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Nonsense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans	p.E216*	ENST00000368845.5	37	c.646	CCDS7639.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.321916	0.98210	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-4.5449	17.8803	0.88838	0.0:1.0:0.0:0.0	.	.	.	.	X	78;216	.	ENSP00000357838:E216X	E	-	1	0	OAT	126083997	1.000000	0.71417	0.987000	0.45799	0.684000	0.39900	7.406000	0.80017	2.406000	0.81754	0.563000	0.77884	GAG	OAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans	ENSG00000065154		0.398	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	-	0.00	62	0	C	NM_000274		126094007	-1	tier1	-	no_errors	ENST00000368845	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	A
OAT	4942	genome.wustl.edu	37	10	126094007	126094007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:126094007C>A	ENST00000368845.5	-	5	738	c.646G>T	c.(646-648)Gag>Tag	p.E216*	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Nonsense_Mutation_p.E78*	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	216					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	TGAAATACCTCCAGTGCGGGC	0.398																																																	0													97.0	84.0	88.0					10																	126094007		2203	4300	6503	SO:0001587	stop_gained	0			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.646G>T	10.37:g.126094007C>A	ENSP00000357838:p.Glu216*		D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Nonsense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans	p.E216*	ENST00000368845.5	37	c.646	CCDS7639.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.321916	0.98210	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-4.5449	17.8803	0.88838	0.0:1.0:0.0:0.0	.	.	.	.	X	78;216	.	ENSP00000357838:E216X	E	-	1	0	OAT	126083997	1.000000	0.71417	0.987000	0.45799	0.684000	0.39900	7.406000	0.80017	2.406000	0.81754	0.563000	0.77884	GAG	OAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans	ENSG00000065154		0.398	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	-	0.00	91	0	C	NM_000274		126094007	-1	tier1	-	no_errors	ENST00000368845	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	A
OCLN	100506658	genome.wustl.edu	37	5	68849595	68849595	+	3'UTR	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:68849595A>T	ENST00000355237.2	+	0	2102				OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000380766.2_3'UTR	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin						apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CGGAAGCCAAACCTCTGTGAG	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.*97A>T	5.37:g.68849595A>T			B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	RNA	SNP	-	NULL	ENST00000355237.2	37	NULL	CCDS4006.1	5																																																																																			OCLN	-	-	ENSG00000197822		0.388	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	-	0.00	122	0	A	NM_002538		68849595	+1	tier1	-	no_errors	ENST00000514370	ensembl	human	known	74_37	rna	10.64	84	10	SNP	0.000	T
OCLN	100506658	genome.wustl.edu	37	5	68849595	68849595	+	3'UTR	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:68849595A>T	ENST00000355237.2	+	0	2102				OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000380766.2_3'UTR	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin						apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CGGAAGCCAAACCTCTGTGAG	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.*97A>T	5.37:g.68849595A>T			B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	RNA	SNP	-	NULL	ENST00000355237.2	37	NULL	CCDS4006.1	5																																																																																			OCLN	-	-	ENSG00000197822		0.388	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	-	0.00	90	0	A	NM_002538		68849595	+1	tier1	-	no_errors	ENST00000514370	ensembl	human	known	74_37	rna	10.64	84	10	SNP	0.000	T
OLFM1	10439	genome.wustl.edu	37	9	138011558	138011558	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:138011558T>A	ENST00000371793.3	+	6	1243	c.992T>A	c.(991-993)cTc>cAc	p.L331H	OLFM1_ENST00000252854.4_Missense_Mutation_p.L313H|OLFM1_ENST00000371796.3_Missense_Mutation_p.L304H	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	331	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GAGACCATCCTCAAGACCCGC	0.562																																																	0													103.0	88.0	93.0					9																	138011558		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.992T>A	9.37:g.138011558T>A	ENSP00000360858:p.Leu331His		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.L331H	ENST00000371793.3	37	c.992		9	.	.	.	.	.	.	.	.	.	.	T	18.37	3.608226	0.66558	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.90955	-2.76;-2.76;-2.76	5.07	5.07	0.68467	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.110120	0.64402	D	0.000008	D	0.93321	0.7871	L	0.55990	1.75	0.51767	D	0.99993	D;D	0.62365	0.97;0.991	P;D	0.66979	0.739;0.948	D	0.93282	0.6661	10	0.48119	T	0.1	.	14.8166	0.70039	0.0:0.0:0.0:1.0	.	331;313	Q99784;Q6IMJ8	NOE1_HUMAN;.	H	313;304;331	ENSP00000252854:L313H;ENSP00000360861:L304H;ENSP00000360858:L331H	ENSP00000252854:L313H	L	+	2	0	OLFM1	137151379	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.012000	0.64017	1.909000	0.55274	0.459000	0.35465	CTC	OLFM1	-	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	ENSG00000130558		0.562	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0.00	41	0	T	NM_014279		138011558	+1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	A
OLFM1	10439	genome.wustl.edu	37	9	138011558	138011558	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:138011558T>A	ENST00000371793.3	+	6	1243	c.992T>A	c.(991-993)cTc>cAc	p.L331H	OLFM1_ENST00000252854.4_Missense_Mutation_p.L313H|OLFM1_ENST00000371796.3_Missense_Mutation_p.L304H	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	331	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GAGACCATCCTCAAGACCCGC	0.562																																																	0													103.0	88.0	93.0					9																	138011558		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.992T>A	9.37:g.138011558T>A	ENSP00000360858:p.Leu331His		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.L331H	ENST00000371793.3	37	c.992		9	.	.	.	.	.	.	.	.	.	.	T	18.37	3.608226	0.66558	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.90955	-2.76;-2.76;-2.76	5.07	5.07	0.68467	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.110120	0.64402	D	0.000008	D	0.93321	0.7871	L	0.55990	1.75	0.51767	D	0.99993	D;D	0.62365	0.97;0.991	P;D	0.66979	0.739;0.948	D	0.93282	0.6661	10	0.48119	T	0.1	.	14.8166	0.70039	0.0:0.0:0.0:1.0	.	331;313	Q99784;Q6IMJ8	NOE1_HUMAN;.	H	313;304;331	ENSP00000252854:L313H;ENSP00000360861:L304H;ENSP00000360858:L331H	ENSP00000252854:L313H	L	+	2	0	OLFM1	137151379	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.012000	0.64017	1.909000	0.55274	0.459000	0.35465	CTC	OLFM1	-	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	ENSG00000130558		0.562	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0.00	52	0	T	NM_014279		138011558	+1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	A
OLFM3	118427	genome.wustl.edu	37	1	102269549	102269549	+	3'UTR	DEL	T	T	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:102269549delT	ENST00000338858.5	-	0	1681				OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_3'UTR|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3						eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ACTTAAACTCTTTTTTTTTTT	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.*245A>-	1.37:g.102269549delT			Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	RNA	DEL	-	NULL	ENST00000338858.5	37	NULL		1																																																																																			OLFM3	-	-	ENSG00000118733		0.338	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1		0.00	10	0	T			102269549	-1	tier1		no_errors	ENST00000462354	ensembl	human	known	74_37	rna	29.63	19	8	DEL	0.475	-
OPTN	10133	genome.wustl.edu	37	10	13161018	13161018	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:13161018G>A	ENST00000378748.3	+	8	1119	c.757G>A	c.(757-759)Gca>Aca	p.A253T	OPTN_ENST00000378757.2_Missense_Mutation_p.A253T|OPTN_ENST00000263036.5_Missense_Mutation_p.A253T|OPTN_ENST00000378747.3_Missense_Mutation_p.A253T|OPTN_ENST00000378752.3_Missense_Mutation_p.A247T|OPTN_ENST00000378764.2_Missense_Mutation_p.A247T	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	253					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACTTGAAGTTGCACTCAAGGA	0.408																																																	0													92.0	89.0	90.0					10																	13161018		2203	4300	6503	SO:0001583	missense	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.757G>A	10.37:g.13161018G>A	ENSP00000368022:p.Ala253Thr		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	pfam_NEMO_N	p.A253T	ENST00000378748.3	37	c.757	CCDS7094.1	10	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885348	0.33255	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.86562	-2.13;-2.14;-2.13;-2.14;-2.13;-2.13	6.16	5.25	0.73442	.	0.246803	0.46758	D	0.000266	D	0.83866	0.5347	L	0.55481	1.735	0.09310	N	0.999999	B;B	0.15930	0.01;0.015	B;B	0.17098	0.017;0.008	T	0.67684	-0.5607	10	0.15499	T	0.54	-9.0011	15.7668	0.78131	0.0:0.0:0.8625:0.1375	.	247;253	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	T	253;247;253;247;253;253	ENSP00000263036:A253T;ENSP00000368040:A247T;ENSP00000368032:A253T;ENSP00000368027:A247T;ENSP00000368022:A253T;ENSP00000368021:A253T	ENSP00000263036:A253T	A	+	1	0	OPTN	13201024	0.715000	0.27946	0.292000	0.24919	0.838000	0.47535	3.800000	0.55537	1.579000	0.49836	0.650000	0.86243	GCA	OPTN	-	NULL	ENSG00000123240		0.408	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	-	0.00	78	0	G	NM_021980		13161018	+1	tier1	-	no_errors	ENST00000263036	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.222	A
OPTN	10133	genome.wustl.edu	37	10	13161018	13161018	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:13161018G>A	ENST00000378748.3	+	8	1119	c.757G>A	c.(757-759)Gca>Aca	p.A253T	OPTN_ENST00000378757.2_Missense_Mutation_p.A253T|OPTN_ENST00000263036.5_Missense_Mutation_p.A253T|OPTN_ENST00000378747.3_Missense_Mutation_p.A253T|OPTN_ENST00000378752.3_Missense_Mutation_p.A247T|OPTN_ENST00000378764.2_Missense_Mutation_p.A247T	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	253					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACTTGAAGTTGCACTCAAGGA	0.408																																																	0													92.0	89.0	90.0					10																	13161018		2203	4300	6503	SO:0001583	missense	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.757G>A	10.37:g.13161018G>A	ENSP00000368022:p.Ala253Thr		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	pfam_NEMO_N	p.A253T	ENST00000378748.3	37	c.757	CCDS7094.1	10	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885348	0.33255	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.86562	-2.13;-2.14;-2.13;-2.14;-2.13;-2.13	6.16	5.25	0.73442	.	0.246803	0.46758	D	0.000266	D	0.83866	0.5347	L	0.55481	1.735	0.09310	N	0.999999	B;B	0.15930	0.01;0.015	B;B	0.17098	0.017;0.008	T	0.67684	-0.5607	10	0.15499	T	0.54	-9.0011	15.7668	0.78131	0.0:0.0:0.8625:0.1375	.	247;253	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	T	253;247;253;247;253;253	ENSP00000263036:A253T;ENSP00000368040:A247T;ENSP00000368032:A253T;ENSP00000368027:A247T;ENSP00000368022:A253T;ENSP00000368021:A253T	ENSP00000263036:A253T	A	+	1	0	OPTN	13201024	0.715000	0.27946	0.292000	0.24919	0.838000	0.47535	3.800000	0.55537	1.579000	0.49836	0.650000	0.86243	GCA	OPTN	-	NULL	ENSG00000123240		0.408	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	-	0.00	87	0	G	NM_021980		13161018	+1	tier1	-	no_errors	ENST00000263036	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.222	A
OR10J3	441911	genome.wustl.edu	37	1	159284376	159284376	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:159284376T>C	ENST00000332217.5	-	1	73	c.74A>G	c.(73-75)aAa>aGa	p.K25R		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GAAGACAAGTTTGTGCTGCCG	0.443																																																	0													185.0	193.0	191.0					1																	159284376		2203	4300	6503	SO:0001583	missense	0				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.74A>G	1.37:g.159284376T>C	ENSP00000331789:p.Lys25Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K25R	ENST00000332217.5	37	c.74	CCDS30909.1	1	.	.	.	.	.	.	.	.	.	.	T	1.187	-0.636437	0.03557	.	.	ENSG00000196266	ENST00000332217	T	0.00344	8.02	5.13	4.22	0.49857	.	0.000000	0.31872	N	0.006921	T	0.00039	0.0001	N	0.03268	-0.37	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32587	-0.9901	10	0.38643	T	0.18	.	7.6716	0.28462	0.0:0.8153:0.0:0.1847	.	25	Q5JRS4	O10J3_HUMAN	R	25	ENSP00000331789:K25R	ENSP00000331789:K25R	K	-	2	0	OR10J3	157551000	0.004000	0.15560	0.895000	0.35142	0.010000	0.07245	1.731000	0.38135	1.390000	0.46547	-0.232000	0.12228	AAA	OR10J3	-	NULL	ENSG00000196266		0.443	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	-	0.00	60	0	T			159284376	-1	tier1	-	no_errors	ENST00000332217	ensembl	human	known	74_37	missense	17.31	43	9	SNP	0.062	C
OR14A2	388761	genome.wustl.edu	37	1	247886430	247886430	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:247886430T>C	ENST00000366485.1	-	1	915	c.916A>G	c.(916-918)Aca>Gca	p.T306A	RP11-634B7.5_ENST00000426444.1_RNA|RP11-634B7.4_ENST00000449298.1_RNA			Q96R54	O14A2_HUMAN	olfactory receptor, family 14, subfamily A, member 2	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TGACCATATGTTTTCTGCAGC	0.403																																																	0																																										SO:0001583	missense	0			AB065620		1q44	2013-01-16	2008-04-02	2008-04-02	ENSG00000241128	ENSG00000241128		"""GPCR / Class A : Olfactory receptors"""	15024	other	unknown			"""olfactory receptor, family 5, subfamily AX, member 1 pseudogene"", ""olfactory receptor, family 5, subfamily AX, member 1"""	OR5AX1P, OR5AX1			Standard	NG_002409		Approved			Q96R54	OTTHUMG00000040207	ENST00000366485.1:c.916A>G	1.37:g.247886430T>C	ENSP00000355441:p.Thr306Ala			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T306A	ENST00000366485.1	37	c.916		1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.484447	0.01027	.	.	ENSG00000241128	ENST00000366485	T	0.36878	1.23	2.01	0.726	0.18248	.	1816.090000	0.00397	U	0.000055	T	0.21761	0.0524	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13710	-1.0499	7	0.15066	T	0.55	.	7.0506	0.25071	0.0:0.0:0.6241:0.3759	.	.	.	.	A	306	ENSP00000355441:T306A	ENSP00000355441:T306A	T	-	1	0	OR14A2	245953053	0.012000	0.17670	0.000000	0.03702	0.001000	0.01503	2.073000	0.41519	0.153000	0.19213	0.528000	0.53228	ACA	OR14A2	-	NULL	ENSG00000241128		0.403	OR14A2-001	KNOWN	basic|appris_principal	protein_coding	OR14A2	HGNC	protein_coding	OTTHUMT00000096864.1	-	0.00	67	0	T	NG_002409		247886430	-1	tier1	-	no_errors	ENST00000366485	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.000	C
OR14A2	388761	genome.wustl.edu	37	1	247886430	247886430	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:247886430T>C	ENST00000366485.1	-	1	915	c.916A>G	c.(916-918)Aca>Gca	p.T306A	RP11-634B7.5_ENST00000426444.1_RNA|RP11-634B7.4_ENST00000449298.1_RNA			Q96R54	O14A2_HUMAN	olfactory receptor, family 14, subfamily A, member 2	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TGACCATATGTTTTCTGCAGC	0.403																																																	0																																										SO:0001583	missense	0			AB065620		1q44	2013-01-16	2008-04-02	2008-04-02	ENSG00000241128	ENSG00000241128		"""GPCR / Class A : Olfactory receptors"""	15024	other	unknown			"""olfactory receptor, family 5, subfamily AX, member 1 pseudogene"", ""olfactory receptor, family 5, subfamily AX, member 1"""	OR5AX1P, OR5AX1			Standard	NG_002409		Approved			Q96R54	OTTHUMG00000040207	ENST00000366485.1:c.916A>G	1.37:g.247886430T>C	ENSP00000355441:p.Thr306Ala			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T306A	ENST00000366485.1	37	c.916		1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.484447	0.01027	.	.	ENSG00000241128	ENST00000366485	T	0.36878	1.23	2.01	0.726	0.18248	.	1816.090000	0.00397	U	0.000055	T	0.21761	0.0524	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13710	-1.0499	7	0.15066	T	0.55	.	7.0506	0.25071	0.0:0.0:0.6241:0.3759	.	.	.	.	A	306	ENSP00000355441:T306A	ENSP00000355441:T306A	T	-	1	0	OR14A2	245953053	0.012000	0.17670	0.000000	0.03702	0.001000	0.01503	2.073000	0.41519	0.153000	0.19213	0.528000	0.53228	ACA	OR14A2	-	NULL	ENSG00000241128		0.403	OR14A2-001	KNOWN	basic|appris_principal	protein_coding	OR14A2	HGNC	protein_coding	OTTHUMT00000096864.1	-	0.00	97	0	T	NG_002409		247886430	-1	tier1	-	no_errors	ENST00000366485	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.000	C
OR2J3	442186	genome.wustl.edu	37	6	29080488	29080488	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:29080488G>A	ENST00000377169.1	+	1	821	c.821G>A	c.(820-822)gGc>gAc	p.G274D		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CAAGATCAAGGCAAGTTCATT	0.433																																																	0													103.0	105.0	104.0					6																	29080488		1247	2545	3792	SO:0001583	missense	0				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.821G>A	6.37:g.29080488G>A	ENSP00000366374:p.Gly274Asp		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G274D	ENST00000377169.1	37	c.821	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	G	9.684	1.150044	0.21371	.	.	ENSG00000204701	ENST00000377169	T	0.00020	9.04	3.02	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.13043	0.29	0.09310	N	1	B	0.24675	0.109	B	0.33750	0.169	T	0.06881	-1.0802	9	0.56958	D	0.05	.	5.8593	0.18736	0.5856:0.0:0.4144:0.0	.	274	O76001	OR2J3_HUMAN	D	274	ENSP00000366374:G274D	ENSP00000366374:G274D	G	+	2	0	OR2J3	29188467	0.000000	0.05858	0.790000	0.31976	0.920000	0.55202	0.099000	0.15210	0.131000	0.18576	0.436000	0.28706	GGC	OR2J3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204701		0.433	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2	-	0.00	25	0	G			29080488	+1	tier1	-	no_errors	ENST00000377169	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.014	A
OR2J3	442186	genome.wustl.edu	37	6	29080488	29080488	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:29080488G>A	ENST00000377169.1	+	1	821	c.821G>A	c.(820-822)gGc>gAc	p.G274D		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CAAGATCAAGGCAAGTTCATT	0.433																																																	0													103.0	105.0	104.0					6																	29080488		1247	2545	3792	SO:0001583	missense	0				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.821G>A	6.37:g.29080488G>A	ENSP00000366374:p.Gly274Asp		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G274D	ENST00000377169.1	37	c.821	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	G	9.684	1.150044	0.21371	.	.	ENSG00000204701	ENST00000377169	T	0.00020	9.04	3.02	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.13043	0.29	0.09310	N	1	B	0.24675	0.109	B	0.33750	0.169	T	0.06881	-1.0802	9	0.56958	D	0.05	.	5.8593	0.18736	0.5856:0.0:0.4144:0.0	.	274	O76001	OR2J3_HUMAN	D	274	ENSP00000366374:G274D	ENSP00000366374:G274D	G	+	2	0	OR2J3	29188467	0.000000	0.05858	0.790000	0.31976	0.920000	0.55202	0.099000	0.15210	0.131000	0.18576	0.436000	0.28706	GGC	OR2J3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204701		0.433	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2	-	0.00	32	0	G			29080488	+1	tier1	-	no_errors	ENST00000377169	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.014	A
OR2K2	26248	genome.wustl.edu	37	9	114090461	114090461	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:114090461A>C	ENST00000374428.1	-	1	339	c.340T>G	c.(340-342)Ttg>Gtg	p.L114V	OR2K2_ENST00000302681.1_Missense_Mutation_p.L85V			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GATGACAGCAAGTTCACCAGC	0.458																																																	0													73.0	73.0	73.0					9																	114090461		2203	4300	6503	SO:0001583	missense	0			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.340T>G	9.37:g.114090461A>C	ENSP00000363550:p.Leu114Val		Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L114V	ENST00000374428.1	37	c.340		9	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234612	0.39498	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00408	7.54;7.54	4.58	-0.733	0.11144	GPCR, rhodopsin-like superfamily (1);	0.236269	0.21783	U	0.069169	T	0.00300	0.0009	M	0.69358	2.11	0.31038	N	0.716672	P	0.45827	0.867	B	0.36244	0.22	T	0.52388	-0.8582	10	0.87932	D	0	.	4.2188	0.10547	0.6044:0.0:0.2538:0.1418	.	114	Q8NGT1	OR2K2_HUMAN	V	85;114	ENSP00000305055:L85V;ENSP00000363550:L114V	ENSP00000305055:L85V	L	-	1	2	OR2K2	113130282	0.000000	0.05858	0.995000	0.50966	0.990000	0.78478	-0.277000	0.08502	-0.196000	0.10366	0.482000	0.46254	TTG	OR2K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171133		0.458	OR2K2-201	KNOWN	basic	protein_coding	OR2K2	HGNC	protein_coding		-	0.00	23	0	A	NM_205859		114090461	-1	tier1	-	no_errors	ENST00000374428	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.982	C
OR2K2	26248	genome.wustl.edu	37	9	114090461	114090461	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:114090461A>C	ENST00000374428.1	-	1	339	c.340T>G	c.(340-342)Ttg>Gtg	p.L114V	OR2K2_ENST00000302681.1_Missense_Mutation_p.L85V			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GATGACAGCAAGTTCACCAGC	0.458																																																	0													73.0	73.0	73.0					9																	114090461		2203	4300	6503	SO:0001583	missense	0			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.340T>G	9.37:g.114090461A>C	ENSP00000363550:p.Leu114Val		Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L114V	ENST00000374428.1	37	c.340		9	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234612	0.39498	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00408	7.54;7.54	4.58	-0.733	0.11144	GPCR, rhodopsin-like superfamily (1);	0.236269	0.21783	U	0.069169	T	0.00300	0.0009	M	0.69358	2.11	0.31038	N	0.716672	P	0.45827	0.867	B	0.36244	0.22	T	0.52388	-0.8582	10	0.87932	D	0	.	4.2188	0.10547	0.6044:0.0:0.2538:0.1418	.	114	Q8NGT1	OR2K2_HUMAN	V	85;114	ENSP00000305055:L85V;ENSP00000363550:L114V	ENSP00000305055:L85V	L	-	1	2	OR2K2	113130282	0.000000	0.05858	0.995000	0.50966	0.990000	0.78478	-0.277000	0.08502	-0.196000	0.10366	0.482000	0.46254	TTG	OR2K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171133		0.458	OR2K2-201	KNOWN	basic	protein_coding	OR2K2	HGNC	protein_coding		-	0.00	47	0	A	NM_205859		114090461	-1	tier1	-	no_errors	ENST00000374428	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.982	C
OR2M2	391194	genome.wustl.edu	37	1	248344067	248344067	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:248344067A>G	ENST00000359682.2	+	1	780	c.780A>G	c.(778-780)atA>atG	p.I260M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATGTACATACGGCCCACAT	0.517																																																	0													225.0	200.0	209.0					1																	248344067		2203	4300	6503	SO:0001583	missense	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.780A>G	1.37:g.248344067A>G	ENSP00000352710:p.Ile260Met		A3KFT4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I260M	ENST00000359682.2	37	c.780	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.219775	0.00024	.	.	ENSG00000198601	ENST00000359682	T	0.38722	1.12	2.03	-4.06	0.03986	GPCR, rhodopsin-like superfamily (1);	0.434403	0.16686	N	0.203754	T	0.08935	0.0221	N	0.01086	-1.025	0.09310	N	1	B	0.15930	0.015	B	0.12156	0.007	T	0.17319	-1.0373	10	0.02654	T	1	.	3.9931	0.09546	0.3743:0.0:0.3683:0.2574	.	260	Q96R28	OR2M2_HUMAN	M	260	ENSP00000352710:I260M	ENSP00000352710:I260M	I	+	3	3	OR2M2	246410690	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.409000	0.00481	-1.701000	0.01413	-3.304000	0.00045	ATA	OR2M2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198601		0.517	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	-	0.00	120	0	A	NM_001004688		248344067	+1	tier1	-	no_errors	ENST00000359682	ensembl	human	known	74_37	missense	14.16	97	16	SNP	0.000	G
OR2T4	127074	genome.wustl.edu	37	1	248525601	248525601	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:248525601T>A	ENST00000366475.1	+	1	719	c.719T>A	c.(718-720)cTc>cAc	p.L240H		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCATGCTCCTCATCCCTGTG	0.483																																																	0													159.0	151.0	154.0					1																	248525601		2203	4300	6503	SO:0001583	missense	0			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.719T>A	1.37:g.248525601T>A	ENSP00000355431:p.Leu240His		Q6IEZ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L240H	ENST00000366475.1	37	c.719	CCDS31113.1	1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903794	0.33628	.	.	ENSG00000196944	ENST00000366475	T	0.45276	0.9	3.09	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000848	T	0.70518	0.3233	H	0.96365	3.81	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61342	-0.7082	10	0.87932	D	0	.	8.8978	0.35476	0.0:0.0:0.1879:0.8121	.	240	Q8NH00	OR2T4_HUMAN	H	240	ENSP00000355431:L240H	ENSP00000355431:L240H	L	+	2	0	OR2T4	246592224	0.000000	0.05858	0.543000	0.28128	0.332000	0.28634	0.417000	0.21214	1.264000	0.44198	0.477000	0.44152	CTC	OR2T4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196944		0.483	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T4	HGNC	protein_coding	OTTHUMT00000097349.2	-	0.00	170	0	T	NM_001004696		248525601	+1	tier1	-	no_errors	ENST00000366475	ensembl	human	known	74_37	missense	42.98	69	52	SNP	0.082	A
OR2T4	127074	genome.wustl.edu	37	1	248525601	248525601	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:248525601T>A	ENST00000366475.1	+	1	719	c.719T>A	c.(718-720)cTc>cAc	p.L240H		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCATGCTCCTCATCCCTGTG	0.483																																																	0													159.0	151.0	154.0					1																	248525601		2203	4300	6503	SO:0001583	missense	0			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.719T>A	1.37:g.248525601T>A	ENSP00000355431:p.Leu240His		Q6IEZ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L240H	ENST00000366475.1	37	c.719	CCDS31113.1	1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903794	0.33628	.	.	ENSG00000196944	ENST00000366475	T	0.45276	0.9	3.09	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000848	T	0.70518	0.3233	H	0.96365	3.81	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61342	-0.7082	10	0.87932	D	0	.	8.8978	0.35476	0.0:0.0:0.1879:0.8121	.	240	Q8NH00	OR2T4_HUMAN	H	240	ENSP00000355431:L240H	ENSP00000355431:L240H	L	+	2	0	OR2T4	246592224	0.000000	0.05858	0.543000	0.28128	0.332000	0.28634	0.417000	0.21214	1.264000	0.44198	0.477000	0.44152	CTC	OR2T4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196944		0.483	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T4	HGNC	protein_coding	OTTHUMT00000097349.2	-	0.00	179	0	T	NM_001004696		248525601	+1	tier1	-	no_errors	ENST00000366475	ensembl	human	known	74_37	missense	42.98	69	52	SNP	0.082	A
OR2Z1	284383	genome.wustl.edu	37	19	8841919	8841919	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:8841919T>G	ENST00000324060.2	+	1	604	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTGGATCACTTCTTCTGTGA	0.572																																																	0													180.0	166.0	171.0					19																	8841919		2203	4300	6503	SO:0001583	missense	0			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.529T>G	19.37:g.8841919T>G	ENSP00000316284:p.Phe177Val		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F177V	ENST00000324060.2	37	c.529	CCDS32895.1	19	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213726	0.39102	.	.	ENSG00000181733	ENST00000324060	T	0.00350	7.98	4.67	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00906	0.0030	M	0.90145	3.09	0.23232	N	0.99808	D	0.89917	1.0	D	0.87578	0.998	T	0.26430	-1.0103	10	0.87932	D	0	.	8.8022	0.34916	0.0:0.0918:0.0:0.9082	.	177	Q8NG97	OR2Z1_HUMAN	V	177	ENSP00000316284:F177V	ENSP00000316284:F177V	F	+	1	0	OR2Z1	8702919	0.974000	0.33945	1.000000	0.80357	0.313000	0.28021	0.770000	0.26618	0.773000	0.33404	0.444000	0.29173	TTC	OR2Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181733		0.572	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	HGNC	protein_coding	OTTHUMT00000459954.1	-	0.00	35	0	T			8841919	+1	tier1	-	no_errors	ENST00000324060	ensembl	human	known	74_37	missense	53.57	13	15	SNP	0.996	G
OR2Z1	284383	genome.wustl.edu	37	19	8841919	8841919	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:8841919T>G	ENST00000324060.2	+	1	604	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTGGATCACTTCTTCTGTGA	0.572																																																	0													180.0	166.0	171.0					19																	8841919		2203	4300	6503	SO:0001583	missense	0			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.529T>G	19.37:g.8841919T>G	ENSP00000316284:p.Phe177Val		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F177V	ENST00000324060.2	37	c.529	CCDS32895.1	19	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213726	0.39102	.	.	ENSG00000181733	ENST00000324060	T	0.00350	7.98	4.67	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00906	0.0030	M	0.90145	3.09	0.23232	N	0.99808	D	0.89917	1.0	D	0.87578	0.998	T	0.26430	-1.0103	10	0.87932	D	0	.	8.8022	0.34916	0.0:0.0918:0.0:0.9082	.	177	Q8NG97	OR2Z1_HUMAN	V	177	ENSP00000316284:F177V	ENSP00000316284:F177V	F	+	1	0	OR2Z1	8702919	0.974000	0.33945	1.000000	0.80357	0.313000	0.28021	0.770000	0.26618	0.773000	0.33404	0.444000	0.29173	TTC	OR2Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181733		0.572	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	HGNC	protein_coding	OTTHUMT00000459954.1	-	0.00	62	0	T			8841919	+1	tier1	-	no_errors	ENST00000324060	ensembl	human	known	74_37	missense	53.57	13	15	SNP	0.996	G
OR52K1	390036	genome.wustl.edu	37	11	4510950	4510950	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:4510950G>T	ENST00000307632.3	+	1	842	c.820G>T	c.(820-822)Gtc>Ttc	p.V274F		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCCCCTCGTGTCCACATACT	0.498																																																	0													199.0	177.0	185.0					11																	4510950		2201	4298	6499	SO:0001583	missense	0			AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.820G>T	11.37:g.4510950G>T	ENSP00000302422:p.Val274Phe		B9EH54|Q6IFK5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V274F	ENST00000307632.3	37	c.820	CCDS31352.1	11	.	.	.	.	.	.	.	.	.	.	G	3.805	-0.040963	0.07452	.	.	ENSG00000196778	ENST00000307632	T	0.00130	8.69	4.5	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000693	T	0.00241	0.0007	L	0.51853	1.615	0.09310	N	1	P	0.52463	0.953	D	0.64144	0.922	T	0.47661	-0.9100	10	0.49607	T	0.09	.	3.2862	0.06932	0.2713:0.0:0.5393:0.1894	.	274	Q8NGK4	O52K1_HUMAN	F	274	ENSP00000302422:V274F	ENSP00000302422:V274F	V	+	1	0	OR52K1	4467526	0.010000	0.17322	0.842000	0.33263	0.075000	0.17131	-0.009000	0.12765	0.593000	0.29745	0.411000	0.27672	GTC	OR52K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196778		0.498	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K1	HGNC	protein_coding	OTTHUMT00000385846.1	-	0.00	47	0	G	NM_001005171		4510950	+1	tier1	-	no_errors	ENST00000307632	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.005	T
OR4S2	219431	genome.wustl.edu	37	11	55418905	55418905	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:55418905T>A	ENST00000312422.2	+	1	526	c.526T>A	c.(526-528)Ttt>Att	p.F176I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGATCACTACTTTTGTGATGT	0.458																																																	0													258.0	197.0	218.0					11																	55418905		2182	4043	6225	SO:0001583	missense	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.526T>A	11.37:g.55418905T>A	ENSP00000310337:p.Phe176Ile		Q6IF72	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F176I	ENST00000312422.2	37	c.526	CCDS31505.1	11	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767793	0.69878	.	.	ENSG00000174982	ENST00000312422	T	0.00220	8.52	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00580	0.0019	M	0.85041	2.73	0.36600	D	0.874604	D	0.71674	0.998	D	0.70227	0.968	T	0.79145	-0.1924	10	0.30078	T	0.28	.	13.8976	0.63783	0.0:0.0:0.0:1.0	.	176	Q8NH73	OR4S2_HUMAN	I	176	ENSP00000310337:F176I	ENSP00000310337:F176I	F	+	1	0	OR4S2	55175481	0.025000	0.19082	1.000000	0.80357	0.996000	0.88848	2.197000	0.42696	1.964000	0.57103	0.443000	0.29094	TTT	OR4S2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000174982		0.458	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	-	0.00	34	0	T	NM_001004059		55418905	+1	tier1	-	no_errors	ENST00000312422	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A
OR4S2	219431	genome.wustl.edu	37	11	55418905	55418905	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:55418905T>A	ENST00000312422.2	+	1	526	c.526T>A	c.(526-528)Ttt>Att	p.F176I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGATCACTACTTTTGTGATGT	0.458																																																	0													258.0	197.0	218.0					11																	55418905		2182	4043	6225	SO:0001583	missense	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.526T>A	11.37:g.55418905T>A	ENSP00000310337:p.Phe176Ile		Q6IF72	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F176I	ENST00000312422.2	37	c.526	CCDS31505.1	11	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767793	0.69878	.	.	ENSG00000174982	ENST00000312422	T	0.00220	8.52	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00580	0.0019	M	0.85041	2.73	0.36600	D	0.874604	D	0.71674	0.998	D	0.70227	0.968	T	0.79145	-0.1924	10	0.30078	T	0.28	.	13.8976	0.63783	0.0:0.0:0.0:1.0	.	176	Q8NH73	OR4S2_HUMAN	I	176	ENSP00000310337:F176I	ENSP00000310337:F176I	F	+	1	0	OR4S2	55175481	0.025000	0.19082	1.000000	0.80357	0.996000	0.88848	2.197000	0.42696	1.964000	0.57103	0.443000	0.29094	TTT	OR4S2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000174982		0.458	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	-	0.00	41	0	T	NM_001004059		55418905	+1	tier1	-	no_errors	ENST00000312422	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A
OR8H3	390152	genome.wustl.edu	37	11	55890329	55890329	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:55890329G>C	ENST00000313472.3	+	1	481	c.481G>C	c.(481-483)Gtt>Ctt	p.V161L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTCAATGTGGTTTCCATGAG	0.438																																																	0													238.0	211.0	220.0					11																	55890329		2201	4296	6497	SO:0001583	missense	0			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.481G>C	11.37:g.55890329G>C	ENSP00000323928:p.Val161Leu		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V161L	ENST00000313472.3	37	c.481	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.805540	0.00606	.	.	ENSG00000181761	ENST00000313472	T	0.34859	1.34	3.62	-7.23	0.01480	GPCR, rhodopsin-like superfamily (1);	0.540237	0.15052	N	0.283278	T	0.10981	0.0268	N	0.04275	-0.24	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.11421	-1.0588	10	0.25751	T	0.34	.	4.1865	0.10400	0.084:0.2089:0.4234:0.2837	.	161	Q8N146	OR8H3_HUMAN	L	161	ENSP00000323928:V161L	ENSP00000323928:V161L	V	+	1	0	OR8H3	55646905	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.044000	0.03532	-1.767000	0.01300	0.173000	0.16961	GTT	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181761		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0.00	40	0	G	NM_001005201		55890329	+1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.000	C
OR8H3	390152	genome.wustl.edu	37	11	55890329	55890329	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:55890329G>C	ENST00000313472.3	+	1	481	c.481G>C	c.(481-483)Gtt>Ctt	p.V161L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTCAATGTGGTTTCCATGAG	0.438																																																	0													238.0	211.0	220.0					11																	55890329		2201	4296	6497	SO:0001583	missense	0			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.481G>C	11.37:g.55890329G>C	ENSP00000323928:p.Val161Leu		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V161L	ENST00000313472.3	37	c.481	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.805540	0.00606	.	.	ENSG00000181761	ENST00000313472	T	0.34859	1.34	3.62	-7.23	0.01480	GPCR, rhodopsin-like superfamily (1);	0.540237	0.15052	N	0.283278	T	0.10981	0.0268	N	0.04275	-0.24	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.11421	-1.0588	10	0.25751	T	0.34	.	4.1865	0.10400	0.084:0.2089:0.4234:0.2837	.	161	Q8N146	OR8H3_HUMAN	L	161	ENSP00000323928:V161L	ENSP00000323928:V161L	V	+	1	0	OR8H3	55646905	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.044000	0.03532	-1.767000	0.01300	0.173000	0.16961	GTT	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181761		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0.00	42	0	G	NM_001005201		55890329	+1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.000	C
OR5T2	219464	genome.wustl.edu	37	11	56000497	56000497	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:56000497G>T	ENST00000313264.4	-	1	240	c.165C>A	c.(163-165)ggC>ggA	p.G55G		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCTGTGAAGCCCTTCAGTA	0.353																																																	0													69.0	60.0	63.0					11																	56000497		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.165C>A	11.37:g.56000497G>T			B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G55	ENST00000313264.4	37	c.165	CCDS31523.1	11																																																																																			OR5T2	-	NULL	ENSG00000181718		0.353	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1		0.00	43	0	G	NM_001004746		56000497	-1			no_errors	ENST00000313264	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.464	T
OR8J1	219477	genome.wustl.edu	37	11	56128335	56128335	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:56128335A>C	ENST00000303039.3	+	1	645	c.613A>C	c.(613-615)Aca>Cca	p.T205P		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATCTGCAGCAACAAATGTGGT	0.294																																																	0													169.0	157.0	161.0					11																	56128335		2201	4296	6497	SO:0001583	missense	0			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.613A>C	11.37:g.56128335A>C	ENSP00000304060:p.Thr205Pro		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T205P	ENST00000303039.3	37	c.613	CCDS31529.1	11	.	.	.	.	.	.	.	.	.	.	A	11.52	1.662662	0.29515	.	.	ENSG00000172487	ENST00000303039	T	0.37915	1.17	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.182272	0.39274	N	0.001410	T	0.34948	0.0915	N	0.25060	0.705	0.23665	N	0.997161	P	0.49961	0.93	P	0.57720	0.826	T	0.09885	-1.0654	10	0.87932	D	0	.	4.8208	0.13390	0.6239:0.1914:0.0:0.1848	.	205	Q8NGP2	OR8J1_HUMAN	P	205	ENSP00000304060:T205P	ENSP00000304060:T205P	T	+	1	0	OR8J1	55884911	0.000000	0.05858	0.990000	0.47175	0.205000	0.24178	-0.377000	0.07456	1.772000	0.52199	0.448000	0.29417	ACA	OR8J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172487		0.294	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J1	HGNC	protein_coding	OTTHUMT00000391606.2	-	0.00	38	0	A	NM_001005205		56128335	+1	tier1	-	no_errors	ENST00000303039	ensembl	human	known	74_37	missense	23.33	46	14	SNP	0.677	C
OR8J1	219477	genome.wustl.edu	37	11	56128335	56128335	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:56128335A>C	ENST00000303039.3	+	1	645	c.613A>C	c.(613-615)Aca>Cca	p.T205P		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATCTGCAGCAACAAATGTGGT	0.294																																																	0													169.0	157.0	161.0					11																	56128335		2201	4296	6497	SO:0001583	missense	0			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.613A>C	11.37:g.56128335A>C	ENSP00000304060:p.Thr205Pro		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T205P	ENST00000303039.3	37	c.613	CCDS31529.1	11	.	.	.	.	.	.	.	.	.	.	A	11.52	1.662662	0.29515	.	.	ENSG00000172487	ENST00000303039	T	0.37915	1.17	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.182272	0.39274	N	0.001410	T	0.34948	0.0915	N	0.25060	0.705	0.23665	N	0.997161	P	0.49961	0.93	P	0.57720	0.826	T	0.09885	-1.0654	10	0.87932	D	0	.	4.8208	0.13390	0.6239:0.1914:0.0:0.1848	.	205	Q8NGP2	OR8J1_HUMAN	P	205	ENSP00000304060:T205P	ENSP00000304060:T205P	T	+	1	0	OR8J1	55884911	0.000000	0.05858	0.990000	0.47175	0.205000	0.24178	-0.377000	0.07456	1.772000	0.52199	0.448000	0.29417	ACA	OR8J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172487		0.294	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J1	HGNC	protein_coding	OTTHUMT00000391606.2	-	0.00	60	0	A	NM_001005205		56128335	+1	tier1	-	no_errors	ENST00000303039	ensembl	human	known	74_37	missense	23.33	46	14	SNP	0.677	C
OR4D6	219983	genome.wustl.edu	37	11	59224556	59224556	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:59224556A>G	ENST00000300127.2	+	1	146	c.123A>G	c.(121-123)ggA>ggG	p.G41G		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CAGTCCTGGGAAATGCACTCA	0.448																																																	0													203.0	180.0	188.0					11																	59224556		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.123A>G	11.37:g.59224556A>G			B2RNP7|Q6IFF5|Q96R74	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G41	ENST00000300127.2	37	c.123	CCDS31562.1	11																																																																																			OR4D6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000166884		0.448	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D6	HGNC	protein_coding	OTTHUMT00000394234.1	-	0.00	48	0	A	NM_001004708		59224556	+1	tier1	-	no_errors	ENST00000300127	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.274	G
OR4D6	219983	genome.wustl.edu	37	11	59224556	59224556	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:59224556A>G	ENST00000300127.2	+	1	146	c.123A>G	c.(121-123)ggA>ggG	p.G41G		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CAGTCCTGGGAAATGCACTCA	0.448																																																	0													203.0	180.0	188.0					11																	59224556		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.123A>G	11.37:g.59224556A>G			B2RNP7|Q6IFF5|Q96R74	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G41	ENST00000300127.2	37	c.123	CCDS31562.1	11																																																																																			OR4D6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000166884		0.448	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D6	HGNC	protein_coding	OTTHUMT00000394234.1	-	0.00	86	0	A	NM_001004708		59224556	+1	tier1	-	no_errors	ENST00000300127	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.274	G
OSBPL6	114880	genome.wustl.edu	37	2	179259041	179259041	+	Splice_Site	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:179259041T>G	ENST00000190611.4	+	24	2951	c.2575T>G	c.(2575-2577)Ttt>Gtt	p.F859V	OSBPL6_ENST00000315022.2_Splice_Site_p.F863V|OSBPL6_ENST00000409045.3_Splice_Site_p.F828V|OSBPL6_ENST00000409631.1_Splice_Site_p.F823V|OSBPL6_ENST00000359685.3_Splice_Site_p.F823V|OSBPL6_ENST00000392505.2_Splice_Site_p.F884V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	859					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCTGCTTAGATTTTTGGAAGA	0.348																																																	0													90.0	104.0	100.0					2																	179259041		2203	4300	6503	SO:0001630	splice_region_variant	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2574-1T>G	2.37:g.179259041T>G			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F863V	ENST00000190611.4	37	c.2587	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722211	0.48728	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	5.48	5.48	0.80851	.	0.192464	0.56097	D	0.000024	T	0.23806	0.0576	L	0.39245	1.2	0.44603	D	0.997578	B;B;B;B;B	0.15719	0.002;0.0;0.0;0.014;0.005	B;B;B;B;B	0.17098	0.009;0.003;0.001;0.017;0.008	T	0.07462	-1.0771	10	0.17832	T	0.49	-17.5929	10.3608	0.43991	0.0:0.0819:0.0:0.9181	.	828;863;823;884;859	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	V	884;823;828;859;823;863	ENSP00000376293:F884V;ENSP00000352713:F823V;ENSP00000387248:F828V;ENSP00000190611:F859V;ENSP00000386885:F823V;ENSP00000318723:F863V	ENSP00000190611:F859V	F	+	1	0	OSBPL6	178967287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.992000	0.49417	2.302000	0.77476	0.528000	0.53228	TTT	OSBPL6	-	pfam_Oxysterol-bd	ENSG00000079156		0.348	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	-	0.00	52	0	T	NM_032523	Missense_Mutation	179259041	+1	tier1	-	no_errors	ENST00000315022	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	G
OSBPL6	114880	genome.wustl.edu	37	2	179259041	179259041	+	Splice_Site	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:179259041T>G	ENST00000190611.4	+	24	2951	c.2575T>G	c.(2575-2577)Ttt>Gtt	p.F859V	OSBPL6_ENST00000315022.2_Splice_Site_p.F863V|OSBPL6_ENST00000409045.3_Splice_Site_p.F828V|OSBPL6_ENST00000409631.1_Splice_Site_p.F823V|OSBPL6_ENST00000359685.3_Splice_Site_p.F823V|OSBPL6_ENST00000392505.2_Splice_Site_p.F884V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	859					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCTGCTTAGATTTTTGGAAGA	0.348																																																	0													90.0	104.0	100.0					2																	179259041		2203	4300	6503	SO:0001630	splice_region_variant	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2574-1T>G	2.37:g.179259041T>G			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F863V	ENST00000190611.4	37	c.2587	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722211	0.48728	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	5.48	5.48	0.80851	.	0.192464	0.56097	D	0.000024	T	0.23806	0.0576	L	0.39245	1.2	0.44603	D	0.997578	B;B;B;B;B	0.15719	0.002;0.0;0.0;0.014;0.005	B;B;B;B;B	0.17098	0.009;0.003;0.001;0.017;0.008	T	0.07462	-1.0771	10	0.17832	T	0.49	-17.5929	10.3608	0.43991	0.0:0.0819:0.0:0.9181	.	828;863;823;884;859	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	V	884;823;828;859;823;863	ENSP00000376293:F884V;ENSP00000352713:F823V;ENSP00000387248:F828V;ENSP00000190611:F859V;ENSP00000386885:F823V;ENSP00000318723:F863V	ENSP00000190611:F859V	F	+	1	0	OSBPL6	178967287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.992000	0.49417	2.302000	0.77476	0.528000	0.53228	TTT	OSBPL6	-	pfam_Oxysterol-bd	ENSG00000079156		0.348	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	-	0.00	85	0	T	NM_032523	Missense_Mutation	179259041	+1	tier1	-	no_errors	ENST00000315022	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	G
P2RY1	5028	genome.wustl.edu	37	3	152554205	152554205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:152554205C>T	ENST00000305097.3	+	1	1470	c.634C>T	c.(634-636)Cga>Tga	p.R212*	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	212					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.R212*(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CGAGTACCTGCGAAGTTATTT	0.512																																																	1	Substitution - Nonsense(1)	large_intestine(1)											169.0	154.0	159.0					3																	152554205		2203	4300	6503	SO:0001587	stop_gained	0			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.634C>T	3.37:g.152554205C>T	ENSP00000304767:p.Arg212*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn	p.R212*	ENST00000305097.3	37	c.634	CCDS3169.1	3	.	.	.	.	.	.	.	.	.	.	C	44	11.252287	0.99537	.	.	ENSG00000169860	ENST00000305097	.	.	.	5.57	3.61	0.41365	.	0.071981	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	13.3084	0.60365	0.5161:0.4839:0.0:0.0	.	.	.	.	X	212	.	ENSP00000304767:R212X	R	+	1	2	P2RY1	154036895	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.417000	0.44653	1.274000	0.44362	0.655000	0.94253	CGA	P2RY1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000169860		0.512	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	HGNC	protein_coding	OTTHUMT00000356943.1		0.00	55	0	C	NM_002563		152554205	+1			no_errors	ENST00000305097	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T
PAN3	255967	genome.wustl.edu	37	13	28840936	28840936	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:28840936A>C	ENST00000380958.3	+	10	1648	c.1496A>C	c.(1495-1497)aAt>aCt	p.N499T	PAN3_ENST00000282391.5_Missense_Mutation_p.N187T|PAN3_ENST00000399613.1_Missense_Mutation_p.N299T	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAATCAAGTAATTTTGGATAT	0.403																																																	0													90.0	89.0	89.0					13																	28840936		2203	4300	6503	SO:0001583	missense	0			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1496A>C	13.37:g.28840936A>C	ENSP00000370345:p.Asn499Thr			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom	p.N499T	ENST00000380958.3	37	c.1496	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380344	0.24944	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.19806	2.12;2.12;2.12	5.41	5.41	0.78517	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	N	0.00926	-1.1	0.80722	D	1	B;B;B;B	0.24920	0.022;0.114;0.007;0.092	B;B;B;B	0.24541	0.054;0.038;0.006;0.028	T	0.34204	-0.9838	10	0.21014	T	0.42	-17.9285	15.4453	0.75225	1.0:0.0:0.0:0.0	.	499;499;187;445	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	T	499;299;187	ENSP00000370345:N499T;ENSP00000382522:N299T;ENSP00000282391:N187T	ENSP00000282391:N187T	N	+	2	0	PAN3	27738936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.306000	0.78905	2.046000	0.60703	0.528000	0.53228	AAT	PAN3	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000152520		0.403	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	-	0.00	59	0	A	NM_175854		28840936	+1	tier1	-	no_errors	ENST00000380958	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	C
PAN3	255967	genome.wustl.edu	37	13	28840936	28840936	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:28840936A>C	ENST00000380958.3	+	10	1648	c.1496A>C	c.(1495-1497)aAt>aCt	p.N499T	PAN3_ENST00000282391.5_Missense_Mutation_p.N187T|PAN3_ENST00000399613.1_Missense_Mutation_p.N299T	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAATCAAGTAATTTTGGATAT	0.403																																																	0													90.0	89.0	89.0					13																	28840936		2203	4300	6503	SO:0001583	missense	0			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1496A>C	13.37:g.28840936A>C	ENSP00000370345:p.Asn499Thr			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom	p.N499T	ENST00000380958.3	37	c.1496	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380344	0.24944	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.19806	2.12;2.12;2.12	5.41	5.41	0.78517	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	N	0.00926	-1.1	0.80722	D	1	B;B;B;B	0.24920	0.022;0.114;0.007;0.092	B;B;B;B	0.24541	0.054;0.038;0.006;0.028	T	0.34204	-0.9838	10	0.21014	T	0.42	-17.9285	15.4453	0.75225	1.0:0.0:0.0:0.0	.	499;499;187;445	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	T	499;299;187	ENSP00000370345:N499T;ENSP00000382522:N299T;ENSP00000282391:N187T	ENSP00000282391:N187T	N	+	2	0	PAN3	27738936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.306000	0.78905	2.046000	0.60703	0.528000	0.53228	AAT	PAN3	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000152520		0.403	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	-	0.00	64	0	A	NM_175854		28840936	+1	tier1	-	no_errors	ENST00000380958	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	C
PAQR5	54852	genome.wustl.edu	37	15	69692375	69692375	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:69692375G>A	ENST00000340965.3	+	8	1340	c.672G>A	c.(670-672)atG>atA	p.M224I	PAQR5_ENST00000561153.1_Missense_Mutation_p.M224I|PAQR5_ENST00000395407.2_Missense_Mutation_p.M224I|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	224					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						AGAAGCACATGATCATGACCC	0.532																																																	0													255.0	203.0	220.0					15																	69692375		2199	4298	6497	SO:0001583	missense	0				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.672G>A	15.37:g.69692375G>A	ENSP00000343877:p.Met224Ile		Q8IXU2	Missense_Mutation	SNP	pfam_HlyIII-related	p.M224I	ENST00000340965.3	37	c.672	CCDS10232.1	15	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463450	0.26248	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.28255	1.62;1.62	5.42	2.49	0.30216	.	0.534882	0.22677	N	0.056985	T	0.11281	0.0275	N	0.05124	-0.11	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.34254	-0.9836	10	0.05721	T	0.95	-21.6745	7.9969	0.30273	0.2636:0.0:0.7364:0.0	.	224	Q9NXK6	MPRG_HUMAN	I	224	ENSP00000378803:M224I;ENSP00000343877:M224I	ENSP00000343877:M224I	M	+	3	0	PAQR5	67479429	0.002000	0.14202	0.944000	0.38274	0.992000	0.81027	-0.001000	0.12947	0.667000	0.31107	0.561000	0.74099	ATG	PAQR5	-	pfam_HlyIII-related	ENSG00000137819		0.532	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR5	HGNC	protein_coding	OTTHUMT00000416671.1	-	0.00	42	0	G	NM_017705		69692375	+1	tier1	-	no_errors	ENST00000340965	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.201	A
PAQR5	54852	genome.wustl.edu	37	15	69692375	69692375	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:69692375G>A	ENST00000340965.3	+	8	1340	c.672G>A	c.(670-672)atG>atA	p.M224I	PAQR5_ENST00000561153.1_Missense_Mutation_p.M224I|PAQR5_ENST00000395407.2_Missense_Mutation_p.M224I|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	224					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						AGAAGCACATGATCATGACCC	0.532																																																	0													255.0	203.0	220.0					15																	69692375		2199	4298	6497	SO:0001583	missense	0				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.672G>A	15.37:g.69692375G>A	ENSP00000343877:p.Met224Ile		Q8IXU2	Missense_Mutation	SNP	pfam_HlyIII-related	p.M224I	ENST00000340965.3	37	c.672	CCDS10232.1	15	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463450	0.26248	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.28255	1.62;1.62	5.42	2.49	0.30216	.	0.534882	0.22677	N	0.056985	T	0.11281	0.0275	N	0.05124	-0.11	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.34254	-0.9836	10	0.05721	T	0.95	-21.6745	7.9969	0.30273	0.2636:0.0:0.7364:0.0	.	224	Q9NXK6	MPRG_HUMAN	I	224	ENSP00000378803:M224I;ENSP00000343877:M224I	ENSP00000343877:M224I	M	+	3	0	PAQR5	67479429	0.002000	0.14202	0.944000	0.38274	0.992000	0.81027	-0.001000	0.12947	0.667000	0.31107	0.561000	0.74099	ATG	PAQR5	-	pfam_HlyIII-related	ENSG00000137819		0.532	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR5	HGNC	protein_coding	OTTHUMT00000416671.1	-	0.00	58	0	G	NM_017705		69692375	+1	tier1	-	no_errors	ENST00000340965	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.201	A
PARD3	56288	genome.wustl.edu	37	10	34601286	34601286	+	Intron	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:34601286C>T	ENST00000374789.3	-	20	3400				PARD3_ENST00000545260.1_Intron|PARD3_ENST00000466092.1_Intron|PARD3_ENST00000340077.5_Silent_p.K1030K|PARD3_ENST00000374788.3_Intron|PARD3_ENST00000374773.1_Silent_p.K1000K|PARD3_ENST00000374776.1_Silent_p.K987K|PARD3_ENST00000545693.1_Intron|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000346874.4_Intron|PARD3_ENST00000544292.1_Silent_p.K746K|PARD3_ENST00000350537.4_Intron	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator						apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGTTCATCTCTTCTCGGGCT	0.358																																																	0													307.0	281.0	289.0					10																	34601286		876	1991	2867	SO:0001627	intron_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3074+4748G>A	10.37:g.34601286C>T			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K1030	ENST00000374789.3	37	c.3090	CCDS7178.1	10																																																																																			PARD3	-	NULL	ENSG00000148498		0.358	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0.00	124	0	C	NM_019619		34601286	-1	tier1	-	no_errors	ENST00000340077	ensembl	human	known	74_37	silent	13.21	92	14	SNP	1.000	T
PARD3	56288	genome.wustl.edu	37	10	34601286	34601286	+	Intron	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:34601286C>T	ENST00000374789.3	-	20	3400				PARD3_ENST00000545260.1_Intron|PARD3_ENST00000466092.1_Intron|PARD3_ENST00000340077.5_Silent_p.K1030K|PARD3_ENST00000374788.3_Intron|PARD3_ENST00000374773.1_Silent_p.K1000K|PARD3_ENST00000374776.1_Silent_p.K987K|PARD3_ENST00000545693.1_Intron|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000346874.4_Intron|PARD3_ENST00000544292.1_Silent_p.K746K|PARD3_ENST00000350537.4_Intron	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator						apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGTTCATCTCTTCTCGGGCT	0.358																																																	0													307.0	281.0	289.0					10																	34601286		876	1991	2867	SO:0001627	intron_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3074+4748G>A	10.37:g.34601286C>T			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K1030	ENST00000374789.3	37	c.3090	CCDS7178.1	10																																																																																			PARD3	-	NULL	ENSG00000148498		0.358	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0.00	94	0	C	NM_019619		34601286	-1	tier1	-	no_errors	ENST00000340077	ensembl	human	known	74_37	silent	13.21	92	14	SNP	1.000	T
PARP10	84875	genome.wustl.edu	37	8	145059731	145059731	+	Silent	SNP	C	C	T	rs147869775		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:145059731C>T	ENST00000313028.7	-	4	616	c.522G>A	c.(520-522)gcG>gcA	p.A174A	PARP10_ENST00000525773.1_Silent_p.A186A|PARP10_ENST00000524918.1_Silent_p.A174A|PARP10_ENST00000533665.1_5'UTR	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	174					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACACGCACCGCTCGGGCCT	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		16931	0.001		0.0	False		,,,				2504	0.0																0										0,4406		0,0,2203	45.0	50.0	48.0		522	-8.1	0.0	8	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PARP10	NM_032789.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		174/1026	145059731	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.522G>A	8.37:g.145059731C>T			Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.A174	ENST00000313028.7	37	c.522	CCDS34960.1	8																																																																																			PARP10	-	NULL	ENSG00000178685		0.672	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	-	0.00	25	0	C	NM_032789		145059731	-1	tier1	rs147869775	no_errors	ENST00000313028	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.000	T
PARP8	79668	genome.wustl.edu	37	5	50093060	50093060	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:50093060T>G	ENST00000281631.5	+	14	1726	c.1568T>G	c.(1567-1569)aTg>aGg	p.M523R	PARP8_ENST00000514342.2_Missense_Mutation_p.M276R|PARP8_ENST00000503750.2_Missense_Mutation_p.M523R|PARP8_ENST00000514067.2_Missense_Mutation_p.M523R|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.M502R|PARP8_ENST00000505697.2_Missense_Mutation_p.M523R	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	523						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AATGGCCCTATGCTTAGGGTA	0.328																																																	0													135.0	119.0	125.0					5																	50093060		2203	4299	6502	SO:0001583	missense	0			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1568T>G	5.37:g.50093060T>G	ENSP00000281631:p.Met523Arg		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.M523R	ENST00000281631.5	37	c.1568	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	T	25.4	4.630269	0.87660	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.36672	1.1	0.80722	D	1	P;P;P	0.52316	0.94;0.952;0.94	P;P;P	0.55112	0.769;0.643;0.769	T	0.59311	-0.7478	8	.	.	.	-23.285	16.0796	0.80995	0.0:0.0:0.0:1.0	.	415;523;523	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	R	523;523;276;523;523;502;276;276	.	.	M	+	2	0	PARP8	50128817	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.877000	0.87225	2.206000	0.71126	0.533000	0.62120	ATG	PARP8	-	NULL	ENSG00000151883		0.328	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	-	0.00	47	0	T	NM_024615		50093060	+1	tier1	-	no_errors	ENST00000281631	ensembl	human	known	74_37	missense	13.89	30	5	SNP	1.000	G
PARP8	79668	genome.wustl.edu	37	5	50093060	50093060	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:50093060T>G	ENST00000281631.5	+	14	1726	c.1568T>G	c.(1567-1569)aTg>aGg	p.M523R	PARP8_ENST00000514342.2_Missense_Mutation_p.M276R|PARP8_ENST00000503750.2_Missense_Mutation_p.M523R|PARP8_ENST00000514067.2_Missense_Mutation_p.M523R|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.M502R|PARP8_ENST00000505697.2_Missense_Mutation_p.M523R	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	523						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AATGGCCCTATGCTTAGGGTA	0.328																																																	0													135.0	119.0	125.0					5																	50093060		2203	4299	6502	SO:0001583	missense	0			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1568T>G	5.37:g.50093060T>G	ENSP00000281631:p.Met523Arg		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.M523R	ENST00000281631.5	37	c.1568	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	T	25.4	4.630269	0.87660	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.36672	1.1	0.80722	D	1	P;P;P	0.52316	0.94;0.952;0.94	P;P;P	0.55112	0.769;0.643;0.769	T	0.59311	-0.7478	8	.	.	.	-23.285	16.0796	0.80995	0.0:0.0:0.0:1.0	.	415;523;523	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	R	523;523;276;523;523;502;276;276	.	.	M	+	2	0	PARP8	50128817	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.877000	0.87225	2.206000	0.71126	0.533000	0.62120	ATG	PARP8	-	NULL	ENSG00000151883		0.328	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	-	0.00	56	0	T	NM_024615		50093060	+1	tier1	-	no_errors	ENST00000281631	ensembl	human	known	74_37	missense	13.89	30	5	SNP	1.000	G
PAXBP1	94104	genome.wustl.edu	37	21	34134584	34134584	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:34134584G>T	ENST00000331923.4	-	4	883	c.694C>A	c.(694-696)Cgc>Agc	p.R232S	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.R232S	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	232					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCCATTTGGCGCTTTTTCCTT	0.413																																																	0													65.0	65.0	65.0					21																	34134584		2203	4300	6503	SO:0001583	missense	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.694C>A	21.37:g.34134584G>T	ENSP00000328992:p.Arg232Ser		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	pfam_GCFC_dom	p.R232S	ENST00000331923.4	37	c.694	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650134	0.87958	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.71579	-0.22;-0.58	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.86083	0.5848	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87546	0.2462	10	0.59425	D	0.04	-12.8813	14.521	0.67851	0.0:0.0:0.8533:0.1467	.	232;232	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	S	232	ENSP00000328992:R232S;ENSP00000290178:R232S	ENSP00000290178:R232S	R	-	1	0	GCFC1	33056455	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.125000	0.71627	2.752000	0.94435	0.557000	0.71058	CGC	PAXBP1	-	NULL	ENSG00000159086		0.413	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAXBP1	HGNC	protein_coding	OTTHUMT00000139563.1	-	0.00	44	0	G	NM_013329		34134584	-1	tier1	-	no_errors	ENST00000331923	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	55582821	55582821	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:55582821T>C	ENST00000320301.6	-	33	5059	c.4665A>G	c.(4663-4665)aaA>aaG	p.K1555K	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Silent_p.K1515K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Silent_p.K1557K|PCDH15_ENST00000395430.1_Silent_p.K1552K|PCDH15_ENST00000437009.1_Silent_p.K1486K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.K1532K|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1555					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCTTGTATTTTGGGTGAAA	0.423										HNSCC(58;0.16)																																							0													84.0	89.0	87.0					10																	55582821		2203	4299	6502	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4665A>G	10.37:g.55582821T>C			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K1555	ENST00000320301.6	37	c.4665	CCDS7248.1	10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	41	0	T	NM_033056		55582821	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.059	C
PCDH15	65217	genome.wustl.edu	37	10	55582821	55582821	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:55582821T>C	ENST00000320301.6	-	33	5059	c.4665A>G	c.(4663-4665)aaA>aaG	p.K1555K	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Silent_p.K1515K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Silent_p.K1557K|PCDH15_ENST00000395430.1_Silent_p.K1552K|PCDH15_ENST00000437009.1_Silent_p.K1486K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.K1532K|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1555					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCTTGTATTTTGGGTGAAA	0.423										HNSCC(58;0.16)																																							0													84.0	89.0	87.0					10																	55582821		2203	4299	6502	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4665A>G	10.37:g.55582821T>C			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K1555	ENST00000320301.6	37	c.4665	CCDS7248.1	10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	54	0	T	NM_033056		55582821	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.059	C
PCDH15	65217	genome.wustl.edu	37	10	55955475	55955475	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:55955475T>G	ENST00000320301.6	-	11	1667	c.1273A>C	c.(1273-1275)Aga>Cga	p.R425R	PCDH15_ENST00000395440.1_Silent_p.R425R|PCDH15_ENST00000373957.3_Silent_p.R403R|PCDH15_ENST00000373965.2_Silent_p.R425R|PCDH15_ENST00000395438.1_Silent_p.R425R|PCDH15_ENST00000395445.1_Silent_p.R425R|PCDH15_ENST00000395432.2_Silent_p.R388R|PCDH15_ENST00000414778.1_Silent_p.R430R|PCDH15_ENST00000395446.1_Silent_p.R425R|PCDH15_ENST00000361849.3_Silent_p.R425R|PCDH15_ENST00000395430.1_Silent_p.R425R|PCDH15_ENST00000437009.1_Silent_p.R425R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.R403R|PCDH15_ENST00000373955.1_Silent_p.R425R|PCDH15_ENST00000409834.1_Silent_p.R29R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	425	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTACTATTCTTAAAGGTGAA	0.368										HNSCC(58;0.16)																																							0													112.0	105.0	107.0					10																	55955475		2203	4300	6503	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1273A>C	10.37:g.55955475T>G			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R425	ENST00000320301.6	37	c.1273	CCDS7248.1	10																																																																																			PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150275		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	51	0	T	NM_033056		55955475	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	silent	38.24	42	26	SNP	1.000	G
PCDH15	65217	genome.wustl.edu	37	10	55955475	55955475	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:55955475T>G	ENST00000320301.6	-	11	1667	c.1273A>C	c.(1273-1275)Aga>Cga	p.R425R	PCDH15_ENST00000395440.1_Silent_p.R425R|PCDH15_ENST00000373957.3_Silent_p.R403R|PCDH15_ENST00000373965.2_Silent_p.R425R|PCDH15_ENST00000395438.1_Silent_p.R425R|PCDH15_ENST00000395445.1_Silent_p.R425R|PCDH15_ENST00000395432.2_Silent_p.R388R|PCDH15_ENST00000414778.1_Silent_p.R430R|PCDH15_ENST00000395446.1_Silent_p.R425R|PCDH15_ENST00000361849.3_Silent_p.R425R|PCDH15_ENST00000395430.1_Silent_p.R425R|PCDH15_ENST00000437009.1_Silent_p.R425R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.R403R|PCDH15_ENST00000373955.1_Silent_p.R425R|PCDH15_ENST00000409834.1_Silent_p.R29R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	425	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTACTATTCTTAAAGGTGAA	0.368										HNSCC(58;0.16)																																							0													112.0	105.0	107.0					10																	55955475		2203	4300	6503	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1273A>C	10.37:g.55955475T>G			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R425	ENST00000320301.6	37	c.1273	CCDS7248.1	10																																																																																			PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150275		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	80	0	T	NM_033056		55955475	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	silent	38.24	42	26	SNP	1.000	G
PCDH20	64881	genome.wustl.edu	37	13	61986873	61986873	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:61986873A>C	ENST00000409186.1	-	5	3464	c.1359T>G	c.(1357-1359)ttT>ttG	p.F453L	PCDH20_ENST00000409204.4_Missense_Mutation_p.F453L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	453	Cadherin 3. {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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTATGGTGAAAAACGCAATGG	0.413																																																	0													102.0	103.0	103.0					13																	61986873		2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1359T>G	13.37:g.61986873A>C	ENSP00000386653:p.Phe453Leu		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F453L	ENST00000409186.1	37	c.1359	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	A	2.720	-0.266715	0.05754	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.59364	0.27;0.27	5.6	0.953	0.19590	.	0.000000	0.64402	D	0.000003	T	0.24236	0.0587	N	0.10733	0.035	0.58432	D	0.999994	P	0.34864	0.473	B	0.24848	0.056	T	0.35450	-0.9788	10	0.02654	T	1	.	8.6294	0.33911	0.7151:0.0:0.2849:0.0	.	453	A8K1K9	.	L	453;453;199	ENSP00000387250:F453L;ENSP00000386653:F453L	ENSP00000351500:F199L	F	-	3	2	PCDH20	60884874	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.156000	0.42310	0.004000	0.14682	0.528000	0.53228	TTT	PCDH20	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197991		0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	-	0.00	36	0	A	NM_022843		61986873	-1	tier1	-	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	C
PCDH20	64881	genome.wustl.edu	37	13	61986873	61986873	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:61986873A>C	ENST00000409186.1	-	5	3464	c.1359T>G	c.(1357-1359)ttT>ttG	p.F453L	PCDH20_ENST00000409204.4_Missense_Mutation_p.F453L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	453	Cadherin 3. {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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTATGGTGAAAAACGCAATGG	0.413																																																	0													102.0	103.0	103.0					13																	61986873		2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1359T>G	13.37:g.61986873A>C	ENSP00000386653:p.Phe453Leu		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F453L	ENST00000409186.1	37	c.1359	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	A	2.720	-0.266715	0.05754	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.59364	0.27;0.27	5.6	0.953	0.19590	.	0.000000	0.64402	D	0.000003	T	0.24236	0.0587	N	0.10733	0.035	0.58432	D	0.999994	P	0.34864	0.473	B	0.24848	0.056	T	0.35450	-0.9788	10	0.02654	T	1	.	8.6294	0.33911	0.7151:0.0:0.2849:0.0	.	453	A8K1K9	.	L	453;453;199	ENSP00000387250:F453L;ENSP00000386653:F453L	ENSP00000351500:F199L	F	-	3	2	PCDH20	60884874	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.156000	0.42310	0.004000	0.14682	0.528000	0.53228	TTT	PCDH20	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197991		0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	-	0.00	43	0	A	NM_022843		61986873	-1	tier1	-	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	C
PCDHA13	56136	genome.wustl.edu	37	5	140264110	140264110	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:140264110C>G	ENST00000289272.2	+	1	2257	c.2257C>G	c.(2257-2259)Cag>Gag	p.Q753E	PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.Q753E	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	753	6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTCGCAGCAGAGGCGGCC	0.687																																					Melanoma(147;1739 1852 5500 27947 37288)												0													42.0	47.0	45.0					5																	140264110		2203	4300	6503	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2257C>G	5.37:g.140264110C>G	ENSP00000289272:p.Gln753Glu		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q753E	ENST00000289272.2	37	c.2257	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073600	0.20147	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.13901	2.55;2.55	4.61	3.73	0.42828	.	.	.	.	.	T	0.26268	0.0641	M	0.90705	3.14	0.22866	N	0.998632	B;B;B	0.12013	0.003;0.001;0.005	B;B;B	0.17979	0.003;0.003;0.02	T	0.16630	-1.0396	9	0.37606	T	0.19	.	14.2436	0.65973	0.0:0.8494:0.1506:0.0	.	753;753;753	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	E	753	ENSP00000386821:Q753E;ENSP00000289272:Q753E	ENSP00000289272:Q753E	Q	+	1	0	PCDHA13	140244294	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	2.030000	0.41108	0.896000	0.36366	0.655000	0.94253	CAG	PCDHA13	-	NULL	ENSG00000239389		0.687	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0.00	66	0	C	NM_018904		140264110	+1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	G
PCDHA13	56136	genome.wustl.edu	37	5	140264110	140264110	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:140264110C>G	ENST00000289272.2	+	1	2257	c.2257C>G	c.(2257-2259)Cag>Gag	p.Q753E	PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.Q753E	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	753	6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTCGCAGCAGAGGCGGCC	0.687																																					Melanoma(147;1739 1852 5500 27947 37288)												0													42.0	47.0	45.0					5																	140264110		2203	4300	6503	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2257C>G	5.37:g.140264110C>G	ENSP00000289272:p.Gln753Glu		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q753E	ENST00000289272.2	37	c.2257	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073600	0.20147	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.13901	2.55;2.55	4.61	3.73	0.42828	.	.	.	.	.	T	0.26268	0.0641	M	0.90705	3.14	0.22866	N	0.998632	B;B;B	0.12013	0.003;0.001;0.005	B;B;B	0.17979	0.003;0.003;0.02	T	0.16630	-1.0396	9	0.37606	T	0.19	.	14.2436	0.65973	0.0:0.8494:0.1506:0.0	.	753;753;753	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	E	753	ENSP00000386821:Q753E;ENSP00000289272:Q753E	ENSP00000289272:Q753E	Q	+	1	0	PCDHA13	140244294	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	2.030000	0.41108	0.896000	0.36366	0.655000	0.94253	CAG	PCDHA13	-	NULL	ENSG00000239389		0.687	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0.00	86	0	C	NM_018904		140264110	+1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	G
PCDHB8	56128	genome.wustl.edu	37	5	140559227	140559227	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:140559227G>A	ENST00000239444.2	+	1	1857	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGACCGCGGCTCCCCGGC	0.667																																																	0													66.0	113.0	97.0					5																	140559227		2203	4299	6502	SO:0001583	missense	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1612G>A	5.37:g.140559227G>A	ENSP00000239444:p.Gly538Ser		B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G538S	ENST00000239444.2	37	c.1612	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376331	0.61735	.	.	ENSG00000120322	ENST00000239444	T	0.01647	4.71	4.22	4.22	0.49857	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17831	0.0428	H	0.95850	3.73	0.51012	D	0.999906	D	0.89917	1.0	D	0.87578	0.998	T	0.30650	-0.9971	9	0.87932	D	0	.	16.2834	0.82708	0.0:0.0:1.0:0.0	.	538	Q9UN66	PCDB8_HUMAN	S	538	ENSP00000239444:G538S	ENSP00000239444:G538S	G	+	1	0	PCDHB8	140539411	1.000000	0.71417	0.942000	0.38095	0.031000	0.12232	9.342000	0.97044	1.915000	0.55452	0.298000	0.19748	GGC	PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120322		0.667	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0.00	433	0	G	NM_019120		140559227	+1	tier1	-	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	15.97	242	46	SNP	1.000	A
PCDHB11	56125	genome.wustl.edu	37	5	140581066	140581066	+	Silent	SNP	C	C	T	rs564395093	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:140581066C>T	ENST00000354757.3	+	1	1719	c.1719C>T	c.(1717-1719)acC>acT	p.T573T	PCDHB11_ENST00000536699.1_Silent_p.T208T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	573	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.706																																																	0													3.0	5.0	4.0					5																	140581066		1349	3171	4520	SO:0001819	synonymous_variant	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1719C>T	5.37:g.140581066C>T			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T573	ENST00000354757.3	37	c.1719	CCDS4253.1	5																																																																																			PCDHB11	-	superfamily_Cadherin-like	ENSG00000197479		0.706	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	-	0.00	72	0	C	NM_018931		140581066	+1	tier1	-	no_errors	ENST00000354757	ensembl	human	known	74_37	silent	17.95	32	7	SNP	0.036	T
PCDHB11	56125	genome.wustl.edu	37	5	140581066	140581066	+	Silent	SNP	C	C	T	rs564395093	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:140581066C>T	ENST00000354757.3	+	1	1719	c.1719C>T	c.(1717-1719)acC>acT	p.T573T	PCDHB11_ENST00000536699.1_Silent_p.T208T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	573	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.706																																																	0													3.0	5.0	4.0					5																	140581066		1349	3171	4520	SO:0001819	synonymous_variant	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1719C>T	5.37:g.140581066C>T			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T573	ENST00000354757.3	37	c.1719	CCDS4253.1	5																																																																																			PCDHB11	-	superfamily_Cadherin-like	ENSG00000197479		0.706	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	-	0.00	80	0	C	NM_018931		140581066	+1	tier1	-	no_errors	ENST00000354757	ensembl	human	known	74_37	silent	17.95	32	7	SNP	0.036	T
PCDHGA8	9708	genome.wustl.edu	37	5	140772817	140772817	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:140772817C>T	ENST00000398604.2	+	1	437	c.437C>T	c.(436-438)gCg>gTg	p.A146V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	146	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.A146V(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGAAATCGCGGTTCCTGGA	0.448																																																	1	Substitution - Missense(1)	lung(1)											52.0	56.0	54.0					5																	140772817		1933	4151	6084	SO:0001583	missense	0			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.437C>T	5.37:g.140772817C>T	ENSP00000381605:p.Ala146Val		A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A146V	ENST00000398604.2	37	c.437	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	12.60	1.987214	0.35036	.	.	ENSG00000253767	ENST00000398604	T	0.55588	0.51	5.41	5.41	0.78517	Cadherin (3);Cadherin-like (1);	0.699665	0.10826	U	0.629889	T	0.52370	0.1730	L	0.48935	1.535	0.26103	N	0.980788	B;B	0.22604	0.072;0.054	B;B	0.21151	0.033;0.016	T	0.47129	-0.9141	10	0.46703	T	0.11	.	18.8047	0.92032	0.0:1.0:0.0:0.0	.	146;146	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	146	ENSP00000381605:A146V	ENSP00000381605:A146V	A	+	2	0	PCDHGA8	140753001	0.051000	0.20477	0.873000	0.34254	0.683000	0.39861	3.317000	0.51968	2.552000	0.86080	0.655000	0.94253	GCG	PCDHGA8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000253767		0.448	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1		0.00	92	0	C	NM_032088		140772817	+1			no_errors	ENST00000398604	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.684	T
PCLO	27445	genome.wustl.edu	37	7	82545247	82545247	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:82545247T>C	ENST00000333891.9	-	7	12392	c.12055A>G	c.(12055-12057)Agt>Ggt	p.S4019G	PCLO_ENST00000437081.1_Missense_Mutation_p.S739G|PCLO_ENST00000423517.2_Missense_Mutation_p.S4019G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCATGCTACTTCTTTCCTCC	0.383																																																	0													231.0	217.0	221.0					7																	82545247		1930	4141	6071	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12055A>G	7.37:g.82545247T>C	ENSP00000334319:p.Ser4019Gly			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S4019G	ENST00000333891.9	37	c.12055	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	3.708	-0.060060	0.07317	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18016	2.24;2.24	5.85	4.71	0.59529	.	.	.	.	.	T	0.10165	0.0249	N	0.11341	0.13	0.25616	N	0.986444	B;B;B	0.11235	0.0;0.004;0.004	B;B;B	0.13407	0.0;0.009;0.009	T	0.11155	-1.0599	9	0.87932	D	0	.	8.6064	0.33775	0.0:0.1428:0.0:0.8572	.	3950;4019;4019	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	G	4019;4019;739	ENSP00000334319:S4019G;ENSP00000388393:S4019G	ENSP00000334319:S4019G	S	-	1	0	PCLO	82383183	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.220000	0.32491	2.234000	0.73211	0.460000	0.39030	AGT	PCLO	-	NULL	ENSG00000186472		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	36	0	T	NM_014510		82545247	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	37.25	32	19	SNP	1.000	C
PCLO	27445	genome.wustl.edu	37	7	82545247	82545247	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:82545247T>C	ENST00000333891.9	-	7	12392	c.12055A>G	c.(12055-12057)Agt>Ggt	p.S4019G	PCLO_ENST00000437081.1_Missense_Mutation_p.S739G|PCLO_ENST00000423517.2_Missense_Mutation_p.S4019G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCATGCTACTTCTTTCCTCC	0.383																																																	0													231.0	217.0	221.0					7																	82545247		1930	4141	6071	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12055A>G	7.37:g.82545247T>C	ENSP00000334319:p.Ser4019Gly			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S4019G	ENST00000333891.9	37	c.12055	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	3.708	-0.060060	0.07317	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18016	2.24;2.24	5.85	4.71	0.59529	.	.	.	.	.	T	0.10165	0.0249	N	0.11341	0.13	0.25616	N	0.986444	B;B;B	0.11235	0.0;0.004;0.004	B;B;B	0.13407	0.0;0.009;0.009	T	0.11155	-1.0599	9	0.87932	D	0	.	8.6064	0.33775	0.0:0.1428:0.0:0.8572	.	3950;4019;4019	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	G	4019;4019;739	ENSP00000334319:S4019G;ENSP00000388393:S4019G	ENSP00000334319:S4019G	S	-	1	0	PCLO	82383183	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.220000	0.32491	2.234000	0.73211	0.460000	0.39030	AGT	PCLO	-	NULL	ENSG00000186472		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	48	0	T	NM_014510		82545247	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	37.25	32	19	SNP	1.000	C
PCLO	27445	genome.wustl.edu	37	7	82581924	82581924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:82581924G>T	ENST00000333891.9	-	5	8682	c.8345C>A	c.(8344-8346)tCa>tAa	p.S2782*	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Nonsense_Mutation_p.S2782*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTATTGATGATGTCACACT	0.428																																																	0													164.0	149.0	154.0					7																	82581924		1963	4152	6115	SO:0001587	stop_gained	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8345C>A	7.37:g.82581924G>T	ENSP00000334319:p.Ser2782*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S2782*	ENST00000333891.9	37	c.8345	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	49	15.117970	0.99823	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.69	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7677	0.46303	0.0741:0.1428:0.7831:0.0	.	.	.	.	X	2713;2782;2782	.	ENSP00000334319:S2782X	S	-	2	0	PCLO	82419860	0.961000	0.32948	0.149000	0.22428	0.333000	0.28666	4.161000	0.58170	2.674000	0.91012	0.655000	0.94253	TCA	PCLO	-	NULL	ENSG00000186472		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	39	0	G	NM_014510		82581924	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	0.004	T
PCLO	27445	genome.wustl.edu	37	7	82581924	82581924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:82581924G>T	ENST00000333891.9	-	5	8682	c.8345C>A	c.(8344-8346)tCa>tAa	p.S2782*	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Nonsense_Mutation_p.S2782*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTATTGATGATGTCACACT	0.428																																																	0													164.0	149.0	154.0					7																	82581924		1963	4152	6115	SO:0001587	stop_gained	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8345C>A	7.37:g.82581924G>T	ENSP00000334319:p.Ser2782*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S2782*	ENST00000333891.9	37	c.8345	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	49	15.117970	0.99823	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.69	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7677	0.46303	0.0741:0.1428:0.7831:0.0	.	.	.	.	X	2713;2782;2782	.	ENSP00000334319:S2782X	S	-	2	0	PCLO	82419860	0.961000	0.32948	0.149000	0.22428	0.333000	0.28666	4.161000	0.58170	2.674000	0.91012	0.655000	0.94253	TCA	PCLO	-	NULL	ENSG00000186472		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	63	0	G	NM_014510		82581924	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	0.004	T
PCLO	27445	genome.wustl.edu	37	7	82585562	82585562	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:82585562A>C	ENST00000333891.9	-	5	5044	c.4707T>G	c.(4705-4707)gcT>gcG	p.A1569A	PCLO_ENST00000423517.2_Silent_p.A1569A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAACCTGAAGCATCTTCAT	0.418																																																	0													162.0	152.0	155.0					7																	82585562		1922	4134	6056	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4707T>G	7.37:g.82585562A>C				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.A1569	ENST00000333891.9	37	c.4707	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	32	0	A	NM_014510		82585562	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	29.03	44	18	SNP	0.936	C
PCLO	27445	genome.wustl.edu	37	7	82585562	82585562	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:82585562A>C	ENST00000333891.9	-	5	5044	c.4707T>G	c.(4705-4707)gcT>gcG	p.A1569A	PCLO_ENST00000423517.2_Silent_p.A1569A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAACCTGAAGCATCTTCAT	0.418																																																	0													162.0	152.0	155.0					7																	82585562		1922	4134	6056	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4707T>G	7.37:g.82585562A>C				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.A1569	ENST00000333891.9	37	c.4707	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	69	0	A	NM_014510		82585562	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	29.03	44	18	SNP	0.936	C
PCNT	5116	genome.wustl.edu	37	21	47783564	47783564	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:47783564G>C	ENST00000359568.5	+	14	2431	c.2324G>C	c.(2323-2325)aGa>aCa	p.R775T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	775	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTGAACTGAGAGAAAAGGCT	0.453																																																	0													113.0	114.0	114.0					21																	47783564		2203	4300	6503	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2324G>C	21.37:g.47783564G>C	ENSP00000352572:p.Arg775Thr		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.R775T	ENST00000359568.5	37	c.2324	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477790	0.26511	.	.	ENSG00000160299	ENST00000359568	T	0.25085	1.82	5.02	0.245	0.15512	.	0.235104	0.21991	N	0.066153	T	0.19927	0.0479	L	0.39898	1.24	0.09310	N	1	P;D	0.53151	0.557;0.958	B;P	0.45343	0.368;0.477	T	0.11616	-1.0580	10	0.44086	T	0.13	.	6.7049	0.23244	0.6646:0.0:0.3354:0.0	.	657;775	O95613-2;O95613	.;PCNT_HUMAN	T	775	ENSP00000352572:R775T	ENSP00000352572:R775T	R	+	2	0	PCNT	46607992	0.001000	0.12720	0.046000	0.18839	0.016000	0.09150	0.422000	0.21296	0.127000	0.18452	0.585000	0.79938	AGA	PCNT	-	NULL	ENSG00000160299		0.453	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1		0.00	84	0	G	NM_006031		47783564	+1			no_errors	ENST00000359568	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.028	C
PCNX	22990	genome.wustl.edu	37	14	71413732	71413732	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:71413732T>G	ENST00000304743.2	+	2	700	c.254T>G	c.(253-255)cTt>cGt	p.L85R	PCNX_ENST00000238570.5_Missense_Mutation_p.L85R|PCNX_ENST00000439984.3_Missense_Mutation_p.L85R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	85						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CACAGAGCACTTGATGCTGGA	0.433																																																	0													128.0	109.0	115.0					14																	71413732		2203	4300	6503	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.254T>G	14.37:g.71413732T>G	ENSP00000304192:p.Leu85Arg		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.L85R	ENST00000304743.2	37	c.254	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582393	0.65992	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.62498	0.02;0.02;0.02	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	L	0.55481	1.735	0.54753	D	0.999989	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.996;0.999	T	0.77101	-0.2712	10	0.59425	D	0.04	.	16.6	0.84812	0.0:0.0:0.0:1.0	.	85;85;85	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	R	85	ENSP00000304192:L85R;ENSP00000238570:L85R;ENSP00000396617:L85R	ENSP00000238570:L85R	L	+	2	0	PCNX	70483485	1.000000	0.71417	0.759000	0.31340	0.991000	0.79684	6.423000	0.73361	2.323000	0.78572	0.533000	0.62120	CTT	PCNX	-	NULL	ENSG00000100731		0.433	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	-	0.00	45	0	T	NM_014982		71413732	+1	tier1	-	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.974	G
PCNX	22990	genome.wustl.edu	37	14	71413732	71413732	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:71413732T>G	ENST00000304743.2	+	2	700	c.254T>G	c.(253-255)cTt>cGt	p.L85R	PCNX_ENST00000238570.5_Missense_Mutation_p.L85R|PCNX_ENST00000439984.3_Missense_Mutation_p.L85R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	85						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CACAGAGCACTTGATGCTGGA	0.433																																																	0													128.0	109.0	115.0					14																	71413732		2203	4300	6503	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.254T>G	14.37:g.71413732T>G	ENSP00000304192:p.Leu85Arg		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.L85R	ENST00000304743.2	37	c.254	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582393	0.65992	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.62498	0.02;0.02;0.02	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	L	0.55481	1.735	0.54753	D	0.999989	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.996;0.999	T	0.77101	-0.2712	10	0.59425	D	0.04	.	16.6	0.84812	0.0:0.0:0.0:1.0	.	85;85;85	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	R	85	ENSP00000304192:L85R;ENSP00000238570:L85R;ENSP00000396617:L85R	ENSP00000238570:L85R	L	+	2	0	PCNX	70483485	1.000000	0.71417	0.759000	0.31340	0.991000	0.79684	6.423000	0.73361	2.323000	0.78572	0.533000	0.62120	CTT	PCNX	-	NULL	ENSG00000100731		0.433	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	-	0.00	72	0	T	NM_014982		71413732	+1	tier1	-	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.974	G
PDCD1LG2	80380	genome.wustl.edu	37	9	5549493	5549493	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:5549493T>A	ENST00000397747.3	+	4	768	c.520T>A	c.(520-522)Tac>Aac	p.Y174N	PDCD1LG2_ENST00000397745.2_Intron	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	174	Ig-like C2-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TGAAGGCCTCTACCAGGTCAC	0.562																																																	0													61.0	64.0	63.0					9																	5549493		2203	4300	6503	SO:0001583	missense	0			AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	18731	protein-coding gene	gene with protein product	"""B7 dendritic cell molecule"""	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.520T>A	9.37:g.5549493T>A	ENSP00000380855:p.Tyr174Asn		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	p.Y174N	ENST00000397747.3	37	c.520	CCDS6465.1	9	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212121	0.79240	.	.	ENSG00000197646	ENST00000397747	T	0.19105	2.17	5.16	5.16	0.70880	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000023	T	0.47875	0.1469	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.52961	-0.8505	10	0.87932	D	0	-8.2368	12.5066	0.55986	0.0:0.0:0.0:1.0	.	163;174;174	Q2LC89;A4GW21;Q9BQ51	.;.;PD1L2_HUMAN	N	174	ENSP00000380855:Y174N	ENSP00000380855:Y174N	Y	+	1	0	PDCD1LG2	5539493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.550000	0.60733	1.956000	0.56807	0.533000	0.62120	TAC	PDCD1LG2	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000197646		0.562	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1LG2	HGNC	protein_coding	OTTHUMT00000051634.1	-	0.00	112	0	T	NM_025239		5549493	+1	tier1	-	no_errors	ENST00000397747	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	A
PDCD1LG2	80380	genome.wustl.edu	37	9	5549493	5549493	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:5549493T>A	ENST00000397747.3	+	4	768	c.520T>A	c.(520-522)Tac>Aac	p.Y174N	PDCD1LG2_ENST00000397745.2_Intron	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	174	Ig-like C2-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TGAAGGCCTCTACCAGGTCAC	0.562																																																	0													61.0	64.0	63.0					9																	5549493		2203	4300	6503	SO:0001583	missense	0			AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	18731	protein-coding gene	gene with protein product	"""B7 dendritic cell molecule"""	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.520T>A	9.37:g.5549493T>A	ENSP00000380855:p.Tyr174Asn		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	p.Y174N	ENST00000397747.3	37	c.520	CCDS6465.1	9	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212121	0.79240	.	.	ENSG00000197646	ENST00000397747	T	0.19105	2.17	5.16	5.16	0.70880	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000023	T	0.47875	0.1469	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.52961	-0.8505	10	0.87932	D	0	-8.2368	12.5066	0.55986	0.0:0.0:0.0:1.0	.	163;174;174	Q2LC89;A4GW21;Q9BQ51	.;.;PD1L2_HUMAN	N	174	ENSP00000380855:Y174N	ENSP00000380855:Y174N	Y	+	1	0	PDCD1LG2	5539493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.550000	0.60733	1.956000	0.56807	0.533000	0.62120	TAC	PDCD1LG2	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000197646		0.562	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1LG2	HGNC	protein_coding	OTTHUMT00000051634.1	-	0.00	91	0	T	NM_025239		5549493	+1	tier1	-	no_errors	ENST00000397747	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	A
PDE4DIP	9659	genome.wustl.edu	37	1	144931675	144931675	+	Intron	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:144931675G>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.L12M|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L12M			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTCCACACAGCTCTCGGGCA	0.622			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													47.0	49.0	49.0					1																	144931675		2203	4300	6503	SO:0001627	intron_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7854C>A	1.37:g.144931675G>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L12M	ENST00000369354.3	37	c.34	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740802	0.89573	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.35605	1.3;1.34	5.44	5.44	0.79542	.	.	.	.	.	T	0.52581	0.1743	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55823	-0.8080	9	0.87932	D	0	.	16.7495	0.85481	0.0:0.0:1.0:0.0	.	12	Q5VU43-2	.	M	12	ENSP00000316434:L12M;ENSP00000433392:L12M	ENSP00000316434:L12M	L	-	1	2	PDE4DIP	143643032	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.555000	0.86185	0.462000	0.41574	CTG	PDE4DIP	-	NULL	ENSG00000178104		0.622	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2		0.00	108	0	G	NM_022359		144931675	-1			no_errors	ENST00000313431	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	31983269	31983269	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:31983269C>A	ENST00000438447.1	+	3	873	c.485C>A	c.(484-486)gCt>gAt	p.A162D	PDZD2_ENST00000282493.3_Missense_Mutation_p.A162D			O15018	PDZD2_HUMAN	PDZ domain containing 2	162	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTTACCTGGCTGAGCAGTGC	0.527																																																	0													94.0	99.0	97.0					5																	31983269		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.485C>A	5.37:g.31983269C>A	ENSP00000402033:p.Ala162Asp		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A162D	ENST00000438447.1	37	c.485	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730238	0.89390	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.73469	-0.75;-0.75	5.23	5.23	0.72850	PDZ/DHR/GLGF (2);	0.000000	0.48767	D	0.000168	T	0.76586	0.4008	N	0.14661	0.345	0.53005	D	0.999961	D	0.89917	1.0	D	0.87578	0.998	T	0.80487	-0.1361	10	0.72032	D	0.01	.	16.3449	0.83120	0.0:1.0:0.0:0.0	.	162	O15018	PDZD2_HUMAN	D	162	ENSP00000402033:A162D;ENSP00000282493:A162D	ENSP00000282493:A162D	A	+	2	0	PDZD2	32019026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.283000	0.65621	2.722000	0.93159	0.650000	0.86243	GCT	PDZD2	-	superfamily_PDZ,smart_PDZ	ENSG00000133401		0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0.00	107	0	C			31983269	+1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	19.64	45	11	SNP	1.000	A
PDZD2	23037	genome.wustl.edu	37	5	31983269	31983269	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:31983269C>A	ENST00000438447.1	+	3	873	c.485C>A	c.(484-486)gCt>gAt	p.A162D	PDZD2_ENST00000282493.3_Missense_Mutation_p.A162D			O15018	PDZD2_HUMAN	PDZ domain containing 2	162	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTTACCTGGCTGAGCAGTGC	0.527																																																	0													94.0	99.0	97.0					5																	31983269		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.485C>A	5.37:g.31983269C>A	ENSP00000402033:p.Ala162Asp		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A162D	ENST00000438447.1	37	c.485	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730238	0.89390	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.73469	-0.75;-0.75	5.23	5.23	0.72850	PDZ/DHR/GLGF (2);	0.000000	0.48767	D	0.000168	T	0.76586	0.4008	N	0.14661	0.345	0.53005	D	0.999961	D	0.89917	1.0	D	0.87578	0.998	T	0.80487	-0.1361	10	0.72032	D	0.01	.	16.3449	0.83120	0.0:1.0:0.0:0.0	.	162	O15018	PDZD2_HUMAN	D	162	ENSP00000402033:A162D;ENSP00000282493:A162D	ENSP00000282493:A162D	A	+	2	0	PDZD2	32019026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.283000	0.65621	2.722000	0.93159	0.650000	0.86243	GCT	PDZD2	-	superfamily_PDZ,smart_PDZ	ENSG00000133401		0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0.00	84	0	C			31983269	+1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	19.64	45	11	SNP	1.000	A
PDZRN3	23024	genome.wustl.edu	37	3	73673724	73673724	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:73673724C>T	ENST00000263666.4	-	1	367	c.253G>A	c.(253-255)Gcg>Acg	p.A85T	PDZRN3-AS1_ENST00000608304.1_RNA|PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3-AS1_ENST00000478988.1_RNA|PDZRN3_ENST00000308537.4_Missense_Mutation_p.A85T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	85					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCGCGCGTCGCGTACGCGCAC	0.716																																																	0																																										SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.253G>A	3.37:g.73673724C>T	ENSP00000263666:p.Ala85Thr		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.A85T	ENST00000263666.4	37	c.253	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067853	0.36470	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.31769	1.48;1.48	4.49	2.62	0.31277	TRAF-like (1);Seven In Absentia Homolog-type (1);	0.222309	0.36778	N	0.002420	T	0.11537	0.0281	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10753	-1.0616	10	0.18710	T	0.47	.	2.6784	0.05086	0.1406:0.4548:0.2885:0.1161	.	85	Q9UPQ7	PZRN3_HUMAN	T	85	ENSP00000263666:A85T;ENSP00000308831:A85T	ENSP00000263666:A85T	A	-	1	0	PDZRN3	73756414	1.000000	0.71417	0.974000	0.42286	0.416000	0.31233	2.309000	0.43699	0.859000	0.35456	0.313000	0.20887	GCG	PDZRN3	-	superfamily_TRAF-like	ENSG00000121440		0.716	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0.00	59	0	C	XM_041363		73673724	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	missense	32.56	29	14	SNP	1.000	T
PDZRN3	23024	genome.wustl.edu	37	3	73673724	73673724	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:73673724C>T	ENST00000263666.4	-	1	367	c.253G>A	c.(253-255)Gcg>Acg	p.A85T	PDZRN3-AS1_ENST00000608304.1_RNA|PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3-AS1_ENST00000478988.1_RNA|PDZRN3_ENST00000308537.4_Missense_Mutation_p.A85T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	85					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCGCGCGTCGCGTACGCGCAC	0.716																																																	0																																										SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.253G>A	3.37:g.73673724C>T	ENSP00000263666:p.Ala85Thr		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.A85T	ENST00000263666.4	37	c.253	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067853	0.36470	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.31769	1.48;1.48	4.49	2.62	0.31277	TRAF-like (1);Seven In Absentia Homolog-type (1);	0.222309	0.36778	N	0.002420	T	0.11537	0.0281	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10753	-1.0616	10	0.18710	T	0.47	.	2.6784	0.05086	0.1406:0.4548:0.2885:0.1161	.	85	Q9UPQ7	PZRN3_HUMAN	T	85	ENSP00000263666:A85T;ENSP00000308831:A85T	ENSP00000263666:A85T	A	-	1	0	PDZRN3	73756414	1.000000	0.71417	0.974000	0.42286	0.416000	0.31233	2.309000	0.43699	0.859000	0.35456	0.313000	0.20887	GCG	PDZRN3	-	superfamily_TRAF-like	ENSG00000121440		0.716	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0.00	73	0	C	XM_041363		73673724	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	missense	32.56	29	14	SNP	1.000	T
PELP1	27043	genome.wustl.edu	37	17	4578413	4578413	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:4578413C>T	ENST00000574876.1	-	11	1252	c.1235G>A	c.(1234-1236)gGt>gAt	p.G412D	PELP1_ENST00000572293.1_Missense_Mutation_p.G462D|PELP1_ENST00000301396.4_Missense_Mutation_p.G556D|PELP1_ENST00000436683.2_Missense_Mutation_p.G265D|PELP1_ENST00000269230.7_Missense_Mutation_p.G410D|AC091153.4_ENST00000441700.2_RNA			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	412					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGAATCTCTACCGATGCTCCA	0.602																																																	0													30.0	31.0	31.0					17																	4578413		1909	4118	6027	SO:0001583	missense	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1235G>A	17.37:g.4578413C>T	ENSP00000461625:p.Gly412Asp		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.G556D	ENST00000574876.1	37	c.1667	CCDS58503.1	17	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189601	0.38707	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.46819	0.86;0.97;1.51	5.59	5.59	0.84812	.	0.131315	0.52532	D	0.000074	T	0.39279	0.1072	L	0.54323	1.7	0.39350	D	0.965737	P;P	0.37015	0.578;0.578	B;B	0.31547	0.132;0.132	T	0.36696	-0.9737	10	0.37606	T	0.19	-16.5967	10.5014	0.44808	0.0:0.9118:0.0:0.0882	.	265;412	E7EV54;Q8IZL8	.;PELP1_HUMAN	D	556;410;265	ENSP00000301396:G556D;ENSP00000269230:G410D;ENSP00000416231:G265D	ENSP00000269230:G410D	G	-	2	0	AC091153.1	4525162	0.081000	0.21417	0.972000	0.41901	0.958000	0.62258	2.395000	0.44459	2.636000	0.89361	0.561000	0.74099	GGT	PELP1	-	NULL	ENSG00000141456		0.602	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	-	0.00	123	0	C	NM_014389		4578413	-1	tier1	-	no_errors	ENST00000301396	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.959	T
PGBD1	84547	genome.wustl.edu	37	6	28269577	28269577	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:28269577C>G	ENST00000405948.2	+	7	2366	c.1946C>G	c.(1945-1947)aCa>aGa	p.T649R	PGBD1_ENST00000259883.3_Missense_Mutation_p.T649R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	649						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAACAGGAACAATTCGTGAG	0.388																																																	0													103.0	98.0	99.0					6																	28269577		2203	4300	6503	SO:0001583	missense	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1946C>G	6.37:g.28269577C>G	ENSP00000385213:p.Thr649Arg		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN	p.T649R	ENST00000405948.2	37	c.1946	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377071	0.24857	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.23348	1.91;1.91	4.84	2.95	0.34219	.	0.807978	0.09802	N	0.754017	T	0.33644	0.0870	M	0.77313	2.365	0.24179	N	0.995599	D	0.59767	0.986	D	0.72075	0.976	T	0.11397	-1.0589	10	0.72032	D	0.01	-0.6245	6.7633	0.23552	0.0:0.7737:0.0:0.2263	.	649	Q96JS3	PGBD1_HUMAN	R	649	ENSP00000385213:T649R;ENSP00000259883:T649R	ENSP00000259883:T649R	T	+	2	0	PGBD1	28377556	0.997000	0.39634	0.121000	0.21740	0.845000	0.48019	1.626000	0.37039	0.683000	0.31428	-0.345000	0.07892	ACA	PGBD1	-	NULL	ENSG00000137338		0.388	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2		0.00	61	0	C			28269577	+1			no_errors	ENST00000259883	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.855	G
PGLYRP2	114770	genome.wustl.edu	37	19	15586453	15586453	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:15586453A>G	ENST00000340880.4	-	2	1508	c.1028T>C	c.(1027-1029)cTa>cCa	p.L343P	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.L343P	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	343					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGCCTCTGTAGAAGGACAAG	0.592																																																	0													68.0	67.0	68.0					19																	15586453		2203	4300	6503	SO:0001583	missense	0			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1028T>C	19.37:g.15586453A>G	ENSP00000345968:p.Leu343Pro		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.L343P	ENST00000340880.4	37	c.1028	CCDS12330.2	19	.	.	.	.	.	.	.	.	.	.	A	12.81	2.050760	0.36181	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.06608	3.28;3.3	5.46	5.46	0.80206	.	0.328483	0.24256	N	0.040127	T	0.24044	0.0582	M	0.77616	2.38	0.50171	D	0.999857	D;D	0.71674	0.998;0.997	D;D	0.70227	0.968;0.952	T	0.00527	-1.1688	10	0.72032	D	0.01	-12.2247	11.9288	0.52835	1.0:0.0:0.0:0.0	.	343;343	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	P	343	ENSP00000345968:L343P;ENSP00000292609:L343P	ENSP00000292609:L343P	L	-	2	0	PGLYRP2	15447453	0.919000	0.31177	0.993000	0.49108	0.011000	0.07611	2.513000	0.45494	2.087000	0.62958	0.459000	0.35465	CTA	PGLYRP2	-	NULL	ENSG00000161031		0.592	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	-	0.00	51	0	A	NM_052890		15586453	-1	tier1	-	no_errors	ENST00000292609	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.952	G
PGLYRP2	114770	genome.wustl.edu	37	19	15586453	15586453	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:15586453A>G	ENST00000340880.4	-	2	1508	c.1028T>C	c.(1027-1029)cTa>cCa	p.L343P	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.L343P	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	343					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGCCTCTGTAGAAGGACAAG	0.592																																																	0													68.0	67.0	68.0					19																	15586453		2203	4300	6503	SO:0001583	missense	0			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1028T>C	19.37:g.15586453A>G	ENSP00000345968:p.Leu343Pro		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.L343P	ENST00000340880.4	37	c.1028	CCDS12330.2	19	.	.	.	.	.	.	.	.	.	.	A	12.81	2.050760	0.36181	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.06608	3.28;3.3	5.46	5.46	0.80206	.	0.328483	0.24256	N	0.040127	T	0.24044	0.0582	M	0.77616	2.38	0.50171	D	0.999857	D;D	0.71674	0.998;0.997	D;D	0.70227	0.968;0.952	T	0.00527	-1.1688	10	0.72032	D	0.01	-12.2247	11.9288	0.52835	1.0:0.0:0.0:0.0	.	343;343	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	P	343	ENSP00000345968:L343P;ENSP00000292609:L343P	ENSP00000292609:L343P	L	-	2	0	PGLYRP2	15447453	0.919000	0.31177	0.993000	0.49108	0.011000	0.07611	2.513000	0.45494	2.087000	0.62958	0.459000	0.35465	CTA	PGLYRP2	-	NULL	ENSG00000161031		0.592	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	-	0.00	58	0	A	NM_052890		15586453	-1	tier1	-	no_errors	ENST00000292609	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.952	G
PHACTR4	65979	genome.wustl.edu	37	1	28802646	28802646	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:28802646A>C	ENST00000373839.3	+	8	1710	c.1449A>C	c.(1447-1449)caA>caC	p.Q483H	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.Q493H	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	483					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGGAGCAAACCTGTCCAT	0.393																																																	0													92.0	86.0	88.0					1																	28802646		1968	4149	6117	SO:0001583	missense	0			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1449A>C	1.37:g.28802646A>C	ENSP00000362945:p.Gln483His		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.Q493H	ENST00000373839.3	37	c.1479	CCDS41293.1	1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013744	0.35511	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.23950	1.89;1.88	5.32	-10.6	0.00265	.	5.113450	0.00357	N	0.000020	T	0.37461	0.1004	L	0.36672	1.1	0.09310	N	1	D;D	0.71674	0.998;0.98	D;P	0.66351	0.943;0.674	T	0.66244	-0.5972	10	0.62326	D	0.03	-5.7631	15.3851	0.74691	0.1823:0.1662:0.6514:0.0	.	493;483	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	H	483;493;482	ENSP00000362945:Q483H;ENSP00000362942:Q493H	ENSP00000362942:Q493H	Q	+	3	2	PHACTR4	28675233	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-1.770000	0.01791	-3.236000	0.00208	-0.408000	0.06270	CAA	PHACTR4	-	NULL	ENSG00000204138		0.393	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHACTR4	HGNC	protein_coding	OTTHUMT00000009868.4	-	0.00	54	0	A	NM_023923		28802646	+1	tier1	-	no_errors	ENST00000373836	ensembl	human	known	74_37	missense	12.94	74	11	SNP	0.000	C
PHACTR4	65979	genome.wustl.edu	37	1	28802646	28802646	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:28802646A>C	ENST00000373839.3	+	8	1710	c.1449A>C	c.(1447-1449)caA>caC	p.Q483H	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.Q493H	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	483					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGGAGCAAACCTGTCCAT	0.393																																																	0													92.0	86.0	88.0					1																	28802646		1968	4149	6117	SO:0001583	missense	0			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1449A>C	1.37:g.28802646A>C	ENSP00000362945:p.Gln483His		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.Q493H	ENST00000373839.3	37	c.1479	CCDS41293.1	1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013744	0.35511	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.23950	1.89;1.88	5.32	-10.6	0.00265	.	5.113450	0.00357	N	0.000020	T	0.37461	0.1004	L	0.36672	1.1	0.09310	N	1	D;D	0.71674	0.998;0.98	D;P	0.66351	0.943;0.674	T	0.66244	-0.5972	10	0.62326	D	0.03	-5.7631	15.3851	0.74691	0.1823:0.1662:0.6514:0.0	.	493;483	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	H	483;493;482	ENSP00000362945:Q483H;ENSP00000362942:Q493H	ENSP00000362942:Q493H	Q	+	3	2	PHACTR4	28675233	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-1.770000	0.01791	-3.236000	0.00208	-0.408000	0.06270	CAA	PHACTR4	-	NULL	ENSG00000204138		0.393	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHACTR4	HGNC	protein_coding	OTTHUMT00000009868.4	-	0.00	90	0	A	NM_023923		28802646	+1	tier1	-	no_errors	ENST00000373836	ensembl	human	known	74_37	missense	12.94	74	11	SNP	0.000	C
PHC3	80012	genome.wustl.edu	37	3	169824725	169824725	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:169824725T>G	ENST00000494943.1	-	12	2395	c.2327A>C	c.(2326-2328)gAa>gCa	p.E776A	PHC3_ENST00000495893.2_Missense_Mutation_p.E788A|PHC3_ENST00000467570.1_Missense_Mutation_p.E735A			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	776					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GTCCATTTCTTCTAATGTCTC	0.343																																																	0													83.0	75.0	77.0					3																	169824725		1812	4072	5884	SO:0001583	missense	0				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2327A>C	3.37:g.169824725T>G	ENSP00000420271:p.Glu776Ala		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.E788A	ENST00000494943.1	37	c.2363		3	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172619	0.57584	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.33865	1.39;1.39	6.06	6.06	0.98353	Zinc finger, FCS-type (1);	0.241754	0.36234	N	0.002719	T	0.28400	0.0702	L	0.33485	1.01	0.80722	D	1	P;B;P	0.36535	0.557;0.005;0.557	B;B;B	0.35971	0.215;0.004;0.12	T	0.08452	-1.0721	10	0.48119	T	0.1	-11.5936	10.8862	0.46968	0.0:0.0696:0.0:0.9304	.	735;776;788	E7EX82;Q8NDX5;Q8NDX5-7	.;PHC3_HUMAN;.	A	776;788;735	ENSP00000420271:E776A;ENSP00000420294:E788A	ENSP00000419089:E735A	E	-	2	0	PHC3	171307419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.307000	0.51888	2.323000	0.78572	0.528000	0.53228	GAA	PHC3	-	pfscan_Znf_FCS	ENSG00000173889		0.343	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3	-	0.00	104	0	T	NM_024947		169824725	-1	tier1	-	no_errors	ENST00000495893	ensembl	human	known	74_37	missense	5.56	102	6	SNP	1.000	G
PHC3	80012	genome.wustl.edu	37	3	169824725	169824725	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:169824725T>G	ENST00000494943.1	-	12	2395	c.2327A>C	c.(2326-2328)gAa>gCa	p.E776A	PHC3_ENST00000495893.2_Missense_Mutation_p.E788A|PHC3_ENST00000467570.1_Missense_Mutation_p.E735A			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	776					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GTCCATTTCTTCTAATGTCTC	0.343																																																	0													83.0	75.0	77.0					3																	169824725		1812	4072	5884	SO:0001583	missense	0				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2327A>C	3.37:g.169824725T>G	ENSP00000420271:p.Glu776Ala		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.E788A	ENST00000494943.1	37	c.2363		3	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172619	0.57584	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.33865	1.39;1.39	6.06	6.06	0.98353	Zinc finger, FCS-type (1);	0.241754	0.36234	N	0.002719	T	0.28400	0.0702	L	0.33485	1.01	0.80722	D	1	P;B;P	0.36535	0.557;0.005;0.557	B;B;B	0.35971	0.215;0.004;0.12	T	0.08452	-1.0721	10	0.48119	T	0.1	-11.5936	10.8862	0.46968	0.0:0.0696:0.0:0.9304	.	735;776;788	E7EX82;Q8NDX5;Q8NDX5-7	.;PHC3_HUMAN;.	A	776;788;735	ENSP00000420271:E776A;ENSP00000420294:E788A	ENSP00000419089:E735A	E	-	2	0	PHC3	171307419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.307000	0.51888	2.323000	0.78572	0.528000	0.53228	GAA	PHC3	-	pfscan_Znf_FCS	ENSG00000173889		0.343	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3	-	0.00	79	0	T	NM_024947		169824725	-1	tier1	-	no_errors	ENST00000495893	ensembl	human	known	74_37	missense	5.56	102	6	SNP	1.000	G
PIEZO2	63895	genome.wustl.edu	37	18	10770275	10770275	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:10770275G>T	ENST00000503781.3	-	19	2741	c.2742C>A	c.(2740-2742)gaC>gaA	p.D914E	PIEZO2_ENST00000302079.6_Missense_Mutation_p.D914E|PIEZO2_ENST00000580640.1_Missense_Mutation_p.D939E|PIEZO2_ENST00000383408.2_Missense_Mutation_p.D202E	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	914					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CAGTGAGGCGGTCAATCACCA	0.373																																																	0													106.0	97.0	100.0					18																	10770275		692	1591	2283	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2742C>A	18.37:g.10770275G>T	ENSP00000421377:p.Asp914Glu		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.D928E	ENST00000503781.3	37	c.2784		18	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016561	0.35606	.	.	ENSG00000154864	ENST00000302079;ENST00000383408	T;T	0.38401	3.55;1.14	5.87	4.07	0.47477	.	0.000000	0.52532	U	0.000061	T	0.26484	0.0647	L	0.42529	1.33	0.80722	D	1	P	0.36683	0.565	B	0.33690	0.168	T	0.04065	-1.0980	10	0.19590	T	0.45	.	10.0365	0.42131	0.2065:0.0:0.7935:0.0	.	939	Q9H5I5-4	.	E	914;202	ENSP00000303316:D914E;ENSP00000372900:D202E	ENSP00000303316:D914E	D	-	3	2	FAM38B	10760275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.819000	0.48049	1.505000	0.48720	0.644000	0.83932	GAC	PIEZO2	-	NULL	ENSG00000154864		0.373	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0.00	104	0	G	NM_022068		10770275	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	T
PIEZO2	63895	genome.wustl.edu	37	18	10770275	10770275	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:10770275G>T	ENST00000503781.3	-	19	2741	c.2742C>A	c.(2740-2742)gaC>gaA	p.D914E	PIEZO2_ENST00000302079.6_Missense_Mutation_p.D914E|PIEZO2_ENST00000580640.1_Missense_Mutation_p.D939E|PIEZO2_ENST00000383408.2_Missense_Mutation_p.D202E	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	914					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CAGTGAGGCGGTCAATCACCA	0.373																																																	0													106.0	97.0	100.0					18																	10770275		692	1591	2283	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2742C>A	18.37:g.10770275G>T	ENSP00000421377:p.Asp914Glu		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.D928E	ENST00000503781.3	37	c.2784		18	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016561	0.35606	.	.	ENSG00000154864	ENST00000302079;ENST00000383408	T;T	0.38401	3.55;1.14	5.87	4.07	0.47477	.	0.000000	0.52532	U	0.000061	T	0.26484	0.0647	L	0.42529	1.33	0.80722	D	1	P	0.36683	0.565	B	0.33690	0.168	T	0.04065	-1.0980	10	0.19590	T	0.45	.	10.0365	0.42131	0.2065:0.0:0.7935:0.0	.	939	Q9H5I5-4	.	E	914;202	ENSP00000303316:D914E;ENSP00000372900:D202E	ENSP00000303316:D914E	D	-	3	2	FAM38B	10760275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.819000	0.48049	1.505000	0.48720	0.644000	0.83932	GAC	PIEZO2	-	NULL	ENSG00000154864		0.373	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0.00	126	0	G	NM_022068		10770275	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	T
PIGR	5284	genome.wustl.edu	37	1	207103697	207103697	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:207103697G>T	ENST00000356495.4	-	11	2444	c.2261C>A	c.(2260-2262)gCc>gAc	p.A754D	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	754					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCCTCGGCGGCCACGGTGCT	0.622																																																	0													48.0	49.0	49.0					1																	207103697		2203	4300	6503	SO:0001583	missense	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.2261C>A	1.37:g.207103697G>T	ENSP00000348888:p.Ala754Asp		Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.A754D	ENST00000356495.4	37	c.2261	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.689954	0.48097	.	.	ENSG00000162896	ENST00000356495	T	0.19105	2.17	5.45	5.45	0.79879	.	0.090393	0.48286	D	0.000185	T	0.43678	0.1258	M	0.66939	2.045	0.20196	N	0.999923	D	0.89917	1.0	D	0.67103	0.949	T	0.31641	-0.9936	10	0.72032	D	0.01	-6.5011	14.7811	0.69769	0.0:0.0:1.0:0.0	.	754	P01833	PIGR_HUMAN	D	754	ENSP00000348888:A754D	ENSP00000348888:A754D	A	-	2	0	PIGR	205170320	0.122000	0.22280	0.051000	0.19133	0.006000	0.05464	3.103000	0.50298	2.568000	0.86640	0.561000	0.74099	GCC	PIGR	-	NULL	ENSG00000162896		0.622	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	-	0.00	47	0	G	NM_002644		207103697	-1	tier1	-	no_errors	ENST00000356495	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.194	T
PIGR	5284	genome.wustl.edu	37	1	207103697	207103697	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:207103697G>T	ENST00000356495.4	-	11	2444	c.2261C>A	c.(2260-2262)gCc>gAc	p.A754D	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	754					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCCTCGGCGGCCACGGTGCT	0.622																																																	0													48.0	49.0	49.0					1																	207103697		2203	4300	6503	SO:0001583	missense	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.2261C>A	1.37:g.207103697G>T	ENSP00000348888:p.Ala754Asp		Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.A754D	ENST00000356495.4	37	c.2261	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.689954	0.48097	.	.	ENSG00000162896	ENST00000356495	T	0.19105	2.17	5.45	5.45	0.79879	.	0.090393	0.48286	D	0.000185	T	0.43678	0.1258	M	0.66939	2.045	0.20196	N	0.999923	D	0.89917	1.0	D	0.67103	0.949	T	0.31641	-0.9936	10	0.72032	D	0.01	-6.5011	14.7811	0.69769	0.0:0.0:1.0:0.0	.	754	P01833	PIGR_HUMAN	D	754	ENSP00000348888:A754D	ENSP00000348888:A754D	A	-	2	0	PIGR	205170320	0.122000	0.22280	0.051000	0.19133	0.006000	0.05464	3.103000	0.50298	2.568000	0.86640	0.561000	0.74099	GCC	PIGR	-	NULL	ENSG00000162896		0.622	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	-	0.00	71	0	G	NM_002644		207103697	-1	tier1	-	no_errors	ENST00000356495	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.194	T
PIK3CA	5290	genome.wustl.edu	37	3	178916946	178916946	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:178916946G>T	ENST00000263967.3	+	2	490	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTGAAGAAAAGATCCTCAATC	0.328		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	16	Substitution - Missense(12)|Deletion - In frame(3)|Complex - deletion inframe(1)	breast(8)|large_intestine(3)|endometrium(3)|lung(2)											82.0	78.0	79.0					3																	178916946		1820	4070	5890	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.333G>T	3.37:g.178916946G>T	ENSP00000263967:p.Lys111Asn		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K111N	ENST00000263967.3	37	c.333	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140160	0.56936	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76709	0.89;-1.04	5.52	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.78637	2.42	0.58432	D	0.999999	D	0.76494	0.999	D	0.70935	0.971	D	0.86015	0.1503	9	.	.	.	-23.7658	10.9773	0.47473	0.1444:0.0:0.8556:0.0	.	111	P42336	PK3CA_HUMAN	N	111	ENSP00000263967:K111N;ENSP00000417479:K111N	.	K	+	3	2	PIK3CA	180399640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.950000	0.40323	2.584000	0.87258	0.555000	0.69702	AAG	PIK3CA	-	NULL	ENSG00000121879		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	35	0	G			178916946	+1	tier1	-	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178916946	178916946	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:178916946G>T	ENST00000263967.3	+	2	490	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTGAAGAAAAGATCCTCAATC	0.328		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	16	Substitution - Missense(12)|Deletion - In frame(3)|Complex - deletion inframe(1)	breast(8)|large_intestine(3)|endometrium(3)|lung(2)											82.0	78.0	79.0					3																	178916946		1820	4070	5890	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.333G>T	3.37:g.178916946G>T	ENSP00000263967:p.Lys111Asn		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K111N	ENST00000263967.3	37	c.333	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140160	0.56936	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76709	0.89;-1.04	5.52	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.78637	2.42	0.58432	D	0.999999	D	0.76494	0.999	D	0.70935	0.971	D	0.86015	0.1503	9	.	.	.	-23.7658	10.9773	0.47473	0.1444:0.0:0.8556:0.0	.	111	P42336	PK3CA_HUMAN	N	111	ENSP00000263967:K111N;ENSP00000417479:K111N	.	K	+	3	2	PIK3CA	180399640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.950000	0.40323	2.584000	0.87258	0.555000	0.69702	AAG	PIK3CA	-	NULL	ENSG00000121879		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	59	0	G			178916946	+1	tier1	-	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	106	0	G			178936091	+1	tier1	rs104886003	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	11.71	97	13	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0.00	73	0	G			178936091	+1	tier1	rs104886003	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	11.71	97	13	SNP	1.000	A
PIM2	11040	genome.wustl.edu	37	X	48772479	48772479	+	Missense_Mutation	SNP	C	C	T	rs35044770	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:48772479C>T	ENST00000376509.4	-	4	602	c.413G>A	c.(412-414)gGc>gAc	p.G138D	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> D (in dbSNP:rs35044770). {ECO:0000269|PubMed:17344846}.		apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GCGGCTTGGGCCTTCACCCAG	0.557																																																	0								C	ASP/GLY	0,3835		0,0,0,1632,571	51.0	45.0	47.0		413	1.2	0.0	X	dbSNP_126	47	3,6725		0,1,2,2427,1870	no	missense	PIM2	NM_006875.3	94	0,1,2,4059,2441	TT,TC,T,CC,C		0.0446,0.0,0.0284	benign	138/312	48772479	3,10560	2203	4300	6503	SO:0001583	missense	0			U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.413G>A	X.37:g.48772479C>T	ENSP00000365692:p.Gly138Asp		A8K4G6|Q99739	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G138D	ENST00000376509.4	37	c.413	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	C	0.673	-0.801096	0.02841	0.0	4.46E-4	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.63913	-0.07;-0.07	5.35	1.19	0.21007	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.045300	0.07421	N	0.893940	T	0.27832	0.0685	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	10	0.11485	T	0.65	.	4.3365	0.11089	0.1616:0.3489:0.0:0.4895	rs35044770	138	Q9P1W9	PIM2_HUMAN	D	138;26	ENSP00000365692:G138D;ENSP00000410960:G26D	ENSP00000365692:G138D	G	-	2	0	PIM2	48657423	0.000000	0.05858	0.007000	0.13788	0.847000	0.48162	-0.224000	0.09164	-0.101000	0.12219	-0.222000	0.12452	GGC	PIM2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000102096		0.557	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	HGNC	protein_coding	OTTHUMT00000060805.1	-	0.00	47	0	C			48772479	-1	tier1	rs35044770	no_errors	ENST00000376509	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.000	T
PIM2	11040	genome.wustl.edu	37	X	48772479	48772479	+	Missense_Mutation	SNP	C	C	T	rs35044770	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:48772479C>T	ENST00000376509.4	-	4	602	c.413G>A	c.(412-414)gGc>gAc	p.G138D	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> D (in dbSNP:rs35044770). {ECO:0000269|PubMed:17344846}.		apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GCGGCTTGGGCCTTCACCCAG	0.557																																																	0								C	ASP/GLY	0,3835		0,0,0,1632,571	51.0	45.0	47.0		413	1.2	0.0	X	dbSNP_126	47	3,6725		0,1,2,2427,1870	no	missense	PIM2	NM_006875.3	94	0,1,2,4059,2441	TT,TC,T,CC,C		0.0446,0.0,0.0284	benign	138/312	48772479	3,10560	2203	4300	6503	SO:0001583	missense	0			U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.413G>A	X.37:g.48772479C>T	ENSP00000365692:p.Gly138Asp		A8K4G6|Q99739	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G138D	ENST00000376509.4	37	c.413	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	C	0.673	-0.801096	0.02841	0.0	4.46E-4	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.63913	-0.07;-0.07	5.35	1.19	0.21007	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.045300	0.07421	N	0.893940	T	0.27832	0.0685	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	10	0.11485	T	0.65	.	4.3365	0.11089	0.1616:0.3489:0.0:0.4895	rs35044770	138	Q9P1W9	PIM2_HUMAN	D	138;26	ENSP00000365692:G138D;ENSP00000410960:G26D	ENSP00000365692:G138D	G	-	2	0	PIM2	48657423	0.000000	0.05858	0.007000	0.13788	0.847000	0.48162	-0.224000	0.09164	-0.101000	0.12219	-0.222000	0.12452	GGC	PIM2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000102096		0.557	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	HGNC	protein_coding	OTTHUMT00000060805.1	-	0.00	63	0	C			48772479	-1	tier1	rs35044770	no_errors	ENST00000376509	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.000	T
PIWIL1	9271	genome.wustl.edu	37	12	130833811	130833811	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:130833811T>C	ENST00000245255.3	+	8	1034	c.762T>C	c.(760-762)acT>acC	p.T254T		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	254					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCTTCACTACTTCCATCCTTC	0.438																																																	0													133.0	130.0	131.0					12																	130833811		2203	4300	6503	SO:0001819	synonymous_variant	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.762T>C	12.37:g.130833811T>C			A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.T254	ENST00000245255.3	37	c.762	CCDS9268.1	12																																																																																			PIWIL1	-	superfamily_PAZ_dom	ENSG00000125207		0.438	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	-	0.00	59	0	T			130833811	+1	tier1	-	no_errors	ENST00000245255	ensembl	human	known	74_37	silent	35.14	47	26	SNP	0.510	C
PIWIL1	9271	genome.wustl.edu	37	12	130833811	130833811	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:130833811T>C	ENST00000245255.3	+	8	1034	c.762T>C	c.(760-762)acT>acC	p.T254T		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	254					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCTTCACTACTTCCATCCTTC	0.438																																																	0													133.0	130.0	131.0					12																	130833811		2203	4300	6503	SO:0001819	synonymous_variant	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.762T>C	12.37:g.130833811T>C			A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.T254	ENST00000245255.3	37	c.762	CCDS9268.1	12																																																																																			PIWIL1	-	superfamily_PAZ_dom	ENSG00000125207		0.438	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	-	0.00	87	0	T			130833811	+1	tier1	-	no_errors	ENST00000245255	ensembl	human	known	74_37	silent	35.14	47	26	SNP	0.510	C
PKDREJ	10343	genome.wustl.edu	37	22	46656636	46656636	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:46656636A>G	ENST00000253255.5	-	1	2583	c.2584T>C	c.(2584-2586)Tat>Cat	p.Y862H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	862	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTCTTGACATACATGTTGAAA	0.388																																																	0													68.0	67.0	68.0					22																	46656636		2203	4300	6503	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2584T>C	22.37:g.46656636A>G	ENSP00000253255:p.Tyr862His		B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.Y862H	ENST00000253255.5	37	c.2584	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738349	0.30774	.	.	ENSG00000130943	ENST00000253255	T	0.36340	1.26	5.16	-1.5	0.08691	Egg jelly receptor, REJ-like (1);	0.885835	0.09634	N	0.775852	T	0.25457	0.0619	L	0.50333	1.59	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.27905	-1.0060	10	0.22706	T	0.39	-8.1353	3.9092	0.09196	0.2374:0.0:0.3026:0.4601	.	862	Q9NTG1	PKDRE_HUMAN	H	862	ENSP00000253255:Y862H	ENSP00000253255:Y862H	Y	-	1	0	PKDREJ	45035300	0.000000	0.05858	0.002000	0.10522	0.713000	0.41058	0.087000	0.14958	-0.183000	0.10585	0.533000	0.62120	TAT	PKDREJ	-	pfscan_REJ-like	ENSG00000130943		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1		0.00	50	0	A	NM_006071		46656636	-1			no_errors	ENST00000253255	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.001	G
PKP4	8502	genome.wustl.edu	37	2	159537122	159537122	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:159537122T>C	ENST00000389759.3	+	22	3624	c.3512T>C	c.(3511-3513)tTt>tCt	p.F1171S	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.F1128S|AC005042.4_ENST00000442666.1_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1171					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TATGTAGACTTTTATTCCACT	0.418										HNSCC(62;0.18)																																							0													119.0	121.0	120.0					2																	159537122		2202	4300	6502	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3512T>C	2.37:g.159537122T>C	ENSP00000374409:p.Phe1171Ser		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.F1171S	ENST00000389759.3	37	c.3512	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858517	0.71834	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	D;D	0.85556	-2.0;-1.69	5.49	5.49	0.81192	.	0.052630	0.85682	D	0.000000	D	0.87188	0.6115	L	0.36672	1.1	0.80722	D	1	D;D;D	0.63880	0.993;0.989;0.993	P;P;P	0.58266	0.827;0.836;0.827	D	0.88787	0.3275	10	0.87932	D	0	-13.5186	15.8895	0.79286	0.0:0.0:0.0:1.0	.	1126;1128;1171	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	S	1128;1171	ENSP00000374407:F1128S;ENSP00000374409:F1171S	ENSP00000374407:F1128S	F	+	2	0	PKP4	159245368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.647000	0.61418	2.207000	0.71202	0.533000	0.62120	TTT	PKP4	-	NULL	ENSG00000144283		0.418	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	-	0.00	77	0	T			159537122	+1	tier1	-	no_errors	ENST00000389759	ensembl	human	known	74_37	missense	15.48	71	13	SNP	1.000	C
PKP4	8502	genome.wustl.edu	37	2	159537122	159537122	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:159537122T>C	ENST00000389759.3	+	22	3624	c.3512T>C	c.(3511-3513)tTt>tCt	p.F1171S	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.F1128S|AC005042.4_ENST00000442666.1_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1171					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TATGTAGACTTTTATTCCACT	0.418										HNSCC(62;0.18)																																							0													119.0	121.0	120.0					2																	159537122		2202	4300	6502	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3512T>C	2.37:g.159537122T>C	ENSP00000374409:p.Phe1171Ser		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.F1171S	ENST00000389759.3	37	c.3512	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858517	0.71834	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	D;D	0.85556	-2.0;-1.69	5.49	5.49	0.81192	.	0.052630	0.85682	D	0.000000	D	0.87188	0.6115	L	0.36672	1.1	0.80722	D	1	D;D;D	0.63880	0.993;0.989;0.993	P;P;P	0.58266	0.827;0.836;0.827	D	0.88787	0.3275	10	0.87932	D	0	-13.5186	15.8895	0.79286	0.0:0.0:0.0:1.0	.	1126;1128;1171	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	S	1128;1171	ENSP00000374407:F1128S;ENSP00000374409:F1171S	ENSP00000374407:F1128S	F	+	2	0	PKP4	159245368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.647000	0.61418	2.207000	0.71202	0.533000	0.62120	TTT	PKP4	-	NULL	ENSG00000144283		0.418	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	-	0.00	98	0	T			159537122	+1	tier1	-	no_errors	ENST00000389759	ensembl	human	known	74_37	missense	15.48	71	13	SNP	1.000	C
PLCB1	23236	genome.wustl.edu	37	20	8630090	8630090	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:8630090T>G	ENST00000338037.6	+	7	615	c.588T>G	c.(586-588)tcT>tcG	p.S196S	PLCB1_ENST00000378637.2_Silent_p.S196S|PLCB1_ENST00000378641.3_Silent_p.S196S	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	196					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTCTTCCATCTTCAAGGGTGA	0.423																																																	0													177.0	157.0	164.0					20																	8630090		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.588T>G	20.37:g.8630090T>G			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S196	ENST00000338037.6	37	c.588	CCDS13102.1	20																																																																																			PLCB1	-	pirsf_PLC-beta	ENSG00000182621		0.423	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	-	0.00	51	0	T			8630090	+1	tier1	-	no_errors	ENST00000338037	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.996	G
PLCB1	23236	genome.wustl.edu	37	20	8630090	8630090	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:8630090T>G	ENST00000338037.6	+	7	615	c.588T>G	c.(586-588)tcT>tcG	p.S196S	PLCB1_ENST00000378637.2_Silent_p.S196S|PLCB1_ENST00000378641.3_Silent_p.S196S	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	196					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTCTTCCATCTTCAAGGGTGA	0.423																																																	0													177.0	157.0	164.0					20																	8630090		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.588T>G	20.37:g.8630090T>G			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S196	ENST00000338037.6	37	c.588	CCDS13102.1	20																																																																																			PLCB1	-	pirsf_PLC-beta	ENSG00000182621		0.423	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	-	0.00	65	0	T			8630090	+1	tier1	-	no_errors	ENST00000338037	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.996	G
PLEKHA5	54477	genome.wustl.edu	37	12	19423138	19423138	+	Intron	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:19423138C>T	ENST00000299275.6	+	9	833				PLEKHA5_ENST00000429027.2_Splice_Site_p.R282*|PLEKHA5_ENST00000355397.3_Intron|PLEKHA5_ENST00000510738.2_Intron|PLEKHA5_ENST00000543806.1_Intron|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000424268.1_Intron|PLEKHA5_ENST00000317589.4_Intron|PLEKHA5_ENST00000538714.1_Intron|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000309364.4_Intron	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5						reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CTTTAATTTCCGGTGAGTACG	0.308																																					Pancreas(196;329 2193 11246 14234 19524)												0																																										SO:0001627	intron_variant	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.827+319C>T	12.37:g.19423138C>T			A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.R282*	ENST00000299275.6	37	c.844	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.828273	0.96996	.	.	ENSG00000052126	ENST00000429027	.	.	.	4.93	2.85	0.33270	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-15.572	5.5566	0.17119	0.4037:0.4996:0.0:0.0967	.	.	.	.	X	282	.	ENSP00000404296:R282X	R	+	1	2	PLEKHA5	19314405	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.389000	0.20751	1.221000	0.43506	0.591000	0.81541	CGA	PLEKHA5	-	NULL	ENSG00000052126		0.308	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	-	0.00	65	0	C	NM_019012		19423138	+1	tier1	-	no_errors	ENST00000429027	ensembl	human	novel	74_37	nonsense	5.48	69	4	SNP	1.000	T
PLEKHA5	54477	genome.wustl.edu	37	12	19423138	19423138	+	Intron	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:19423138C>T	ENST00000299275.6	+	9	833				PLEKHA5_ENST00000429027.2_Splice_Site_p.R282*|PLEKHA5_ENST00000355397.3_Intron|PLEKHA5_ENST00000510738.2_Intron|PLEKHA5_ENST00000543806.1_Intron|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000424268.1_Intron|PLEKHA5_ENST00000317589.4_Intron|PLEKHA5_ENST00000538714.1_Intron|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000309364.4_Intron	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5						reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CTTTAATTTCCGGTGAGTACG	0.308																																					Pancreas(196;329 2193 11246 14234 19524)												0																																										SO:0001627	intron_variant	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.827+319C>T	12.37:g.19423138C>T			A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.R282*	ENST00000299275.6	37	c.844	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.828273	0.96996	.	.	ENSG00000052126	ENST00000429027	.	.	.	4.93	2.85	0.33270	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-15.572	5.5566	0.17119	0.4037:0.4996:0.0:0.0967	.	.	.	.	X	282	.	ENSP00000404296:R282X	R	+	1	2	PLEKHA5	19314405	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.389000	0.20751	1.221000	0.43506	0.591000	0.81541	CGA	PLEKHA5	-	NULL	ENSG00000052126		0.308	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	-	0.00	86	0	C	NM_019012		19423138	+1	tier1	-	no_errors	ENST00000429027	ensembl	human	novel	74_37	nonsense	5.48	69	4	SNP	1.000	T
PLGLA	285189	genome.wustl.edu	37	2	107004042	107004042	+	RNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:107004042A>G	ENST00000484422.1	+	0	131							Q15195	PLGA_HUMAN	plasminogen-like A (pseudogene)							extracellular region (GO:0005576)											GTAAAGAGCAACAATGTGTGA	0.318																																																	0																																												0			U67178, M86872, M86873		2q12.2	2013-03-28	2013-03-28	2008-02-07	ENSG00000240935	ENSG00000240935			9074	pseudogene	pseudogene		612212	"""plasminogen pseudogene 2"", ""plasminogen-like A1"", ""plasminogen-like A"""	PLGP2, PLGLA1		1986355	Standard	NR_003506		Approved		uc002tdp.4	Q15195	OTTHUMG00000153188		2.37:g.107004042A>G				RNA	SNP	-	NULL	ENST00000484422.1	37	NULL		2																																																																																			PLGLA	-	-	ENSG00000240935		0.318	PLGLA-002	KNOWN	basic	processed_transcript	PLGLA	HGNC	pseudogene	OTTHUMT00000331219.1	-	0.00	238	0	A	NR_003506.2		107004042	+1	tier1	-	no_errors	ENST00000482249	ensembl	human	known	74_37	rna	16.67	245	49	SNP	0.235	G
PLEKHM3	389072	genome.wustl.edu	37	2	208841894	208841894	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:208841894T>C	ENST00000427836.2	-	3	1516	c.1027A>G	c.(1027-1029)Acc>Gcc	p.T343A	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.T343A|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.T343A	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	343					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCCCACTGGTTTTCTTCTGG	0.512																																																	0													104.0	104.0	104.0					2																	208841894		1957	4154	6111	SO:0001583	missense	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1027A>G	2.37:g.208841894T>C	ENSP00000417003:p.Thr343Ala		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T343A	ENST00000427836.2	37	c.1027	CCDS42808.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.436|0.436	-0.901097|-0.901097	0.02453|0.02453	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000447645|ENST00000427836;ENST00000389247;ENST00000457206	.|T;T;T	.|0.12147	.|2.71;2.71;2.71	5.82|5.82	-6.85|-6.85	0.01681|0.01681	.|.	.|1.542140	.|0.03154	.|N	.|0.168379	T|T	0.05777|0.05777	0.0151|0.0151	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.29549|0.29549	-1.0008|-1.0008	5|10	.|0.48119	.|T	.|0.1	.|.	2.6315|2.6315	0.04946|0.04946	0.1667:0.3058:0.3451:0.1824|0.1667:0.3058:0.3451:0.1824	.|.	.|343;343	.|C9J119;Q6ZWE6	.|.;PKHM3_HUMAN	S|A	94|343	.|ENSP00000417003:T343A;ENSP00000373899:T343A;ENSP00000400150:T343A	.|ENSP00000373899:T343A	N|T	-|-	2|1	0|0	PLEKHM3|PLEKHM3	208550139|208550139	0.868000|0.868000	0.29978|0.29978	0.009000|0.009000	0.14445|0.14445	0.017000|0.017000	0.09413|0.09413	0.296000|0.296000	0.19083|0.19083	-1.618000|-1.618000	0.01568|0.01568	-1.162000|-1.162000	0.01777|0.01777	AAC|ACC	PLEKHM3	-	NULL	ENSG00000178385		0.512	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	-	0.00	41	0	T	NM_001080475		208841894	-1	tier1	-	no_errors	ENST00000427836	ensembl	human	known	74_37	missense	21.62	29	8	SNP	0.000	C
PLEKHM3	389072	genome.wustl.edu	37	2	208841894	208841894	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:208841894T>C	ENST00000427836.2	-	3	1516	c.1027A>G	c.(1027-1029)Acc>Gcc	p.T343A	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.T343A|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.T343A	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	343					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCCCACTGGTTTTCTTCTGG	0.512																																																	0													104.0	104.0	104.0					2																	208841894		1957	4154	6111	SO:0001583	missense	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1027A>G	2.37:g.208841894T>C	ENSP00000417003:p.Thr343Ala		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T343A	ENST00000427836.2	37	c.1027	CCDS42808.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.436|0.436	-0.901097|-0.901097	0.02453|0.02453	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000447645|ENST00000427836;ENST00000389247;ENST00000457206	.|T;T;T	.|0.12147	.|2.71;2.71;2.71	5.82|5.82	-6.85|-6.85	0.01681|0.01681	.|.	.|1.542140	.|0.03154	.|N	.|0.168379	T|T	0.05777|0.05777	0.0151|0.0151	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.29549|0.29549	-1.0008|-1.0008	5|10	.|0.48119	.|T	.|0.1	.|.	2.6315|2.6315	0.04946|0.04946	0.1667:0.3058:0.3451:0.1824|0.1667:0.3058:0.3451:0.1824	.|.	.|343;343	.|C9J119;Q6ZWE6	.|.;PKHM3_HUMAN	S|A	94|343	.|ENSP00000417003:T343A;ENSP00000373899:T343A;ENSP00000400150:T343A	.|ENSP00000373899:T343A	N|T	-|-	2|1	0|0	PLEKHM3|PLEKHM3	208550139|208550139	0.868000|0.868000	0.29978|0.29978	0.009000|0.009000	0.14445|0.14445	0.017000|0.017000	0.09413|0.09413	0.296000|0.296000	0.19083|0.19083	-1.618000|-1.618000	0.01568|0.01568	-1.162000|-1.162000	0.01777|0.01777	AAC|ACC	PLEKHM3	-	NULL	ENSG00000178385		0.512	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	-	0.00	42	0	T	NM_001080475		208841894	-1	tier1	-	no_errors	ENST00000427836	ensembl	human	known	74_37	missense	21.62	29	8	SNP	0.000	C
PLRG1	5356	genome.wustl.edu	37	4	155460362	155460362	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:155460362C>A	ENST00000499023.2	-	12	1172	c.1046G>T	c.(1045-1047)aGc>aTc	p.S349I	PLRG1_ENST00000302078.5_Missense_Mutation_p.S340I|PLRG1_ENST00000393905.2_Missense_Mutation_p.S349I	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	349					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGTATCATGGCTTCCTGTAAT	0.338																																																	0													171.0	160.0	164.0					4																	155460362		2203	4299	6502	SO:0001583	missense	0			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1046G>T	4.37:g.155460362C>A	ENSP00000424417:p.Ser349Ile		B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S349I	ENST00000499023.2	37	c.1046	CCDS34083.1	4	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021407	0.93462	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078	T;T;T	0.74526	-0.85;-0.85;-0.85	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.035313	0.85682	D	0.000000	D	0.92802	0.7711	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.94795	0.7965	10	0.87932	D	0	-8.0119	20.6593	0.99626	0.0:1.0:0.0:0.0	.	340;349	O43660-2;O43660	.;PLRG1_HUMAN	I	349;349;340	ENSP00000424417:S349I;ENSP00000377483:S349I;ENSP00000303191:S340I	ENSP00000303191:S340I	S	-	2	0	PLRG1	155679812	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.268000	0.78473	2.885000	0.99019	0.655000	0.94253	AGC	PLRG1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000171566		0.338	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLRG1	HGNC	protein_coding	OTTHUMT00000364824.1	-	0.00	51	0	C	NM_002669		155460362	-1	tier1	-	no_errors	ENST00000393905	ensembl	human	known	74_37	missense	35.48	40	22	SNP	1.000	A
PLRG1	5356	genome.wustl.edu	37	4	155460362	155460362	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:155460362C>A	ENST00000499023.2	-	12	1172	c.1046G>T	c.(1045-1047)aGc>aTc	p.S349I	PLRG1_ENST00000302078.5_Missense_Mutation_p.S340I|PLRG1_ENST00000393905.2_Missense_Mutation_p.S349I	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	349					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGTATCATGGCTTCCTGTAAT	0.338																																																	0													171.0	160.0	164.0					4																	155460362		2203	4299	6502	SO:0001583	missense	0			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1046G>T	4.37:g.155460362C>A	ENSP00000424417:p.Ser349Ile		B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S349I	ENST00000499023.2	37	c.1046	CCDS34083.1	4	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021407	0.93462	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078	T;T;T	0.74526	-0.85;-0.85;-0.85	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.035313	0.85682	D	0.000000	D	0.92802	0.7711	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.94795	0.7965	10	0.87932	D	0	-8.0119	20.6593	0.99626	0.0:1.0:0.0:0.0	.	340;349	O43660-2;O43660	.;PLRG1_HUMAN	I	349;349;340	ENSP00000424417:S349I;ENSP00000377483:S349I;ENSP00000303191:S340I	ENSP00000303191:S340I	S	-	2	0	PLRG1	155679812	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.268000	0.78473	2.885000	0.99019	0.655000	0.94253	AGC	PLRG1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000171566		0.338	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLRG1	HGNC	protein_coding	OTTHUMT00000364824.1	-	0.00	76	0	C	NM_002669		155460362	-1	tier1	-	no_errors	ENST00000393905	ensembl	human	known	74_37	missense	35.48	40	22	SNP	1.000	A
PMPCB	9512	genome.wustl.edu	37	7	102950884	102950884	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:102950884C>A	ENST00000249269.4	+	9	1154	c.1116C>A	c.(1114-1116)tcC>tcA	p.S372S	PMPCB_ENST00000420236.2_Silent_p.S267S|PMPCB_ENST00000428154.1_Silent_p.S372S	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	372					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGAATCATCCACTGTTGCAG	0.343																																																	0													96.0	91.0	93.0					7																	102950884		2203	4300	6503	SO:0001819	synonymous_variant	0			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.1116C>A	7.37:g.102950884C>A			O60416|Q96FV4	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.S372	ENST00000249269.4	37	c.1116	CCDS5730.1	7																																																																																			PMPCB	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	ENSG00000105819		0.343	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCB	HGNC	protein_coding	OTTHUMT00000347913.1	-	0.00	74	0	C	NM_004279		102950884	+1	tier1	-	no_errors	ENST00000249269	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	A
POLA2	23649	genome.wustl.edu	37	11	65043451	65043451	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:65043451C>T	ENST00000265465.3	+	5	974	c.443C>T	c.(442-444)cCg>cTg	p.P148L	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	148	Pro/Ser/Thr-rich.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTACTCTCACCGTCAAGTTTC	0.493																																																	0													129.0	111.0	117.0					11																	65043451		2201	4297	6498	SO:0001583	missense	0			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.443C>T	11.37:g.65043451C>T	ENSP00000265465:p.Pro148Leu		B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.P148L	ENST00000265465.3	37	c.443	CCDS8098.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610170	0.87258	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	T	0.29142	1.58	5.71	5.71	0.89125	DNA polymerase alpha, subunit B N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.58312	-0.7658	10	0.87932	D	0	-15.1864	17.3707	0.87376	0.0:1.0:0.0:0.0	.	108;148	E9PIQ6;Q14181	.;DPOA2_HUMAN	L	148;108	ENSP00000265465:P148L	ENSP00000265465:P148L	P	+	2	0	POLA2	64800027	0.999000	0.42202	0.306000	0.25113	0.982000	0.71751	6.075000	0.71261	2.712000	0.92718	0.650000	0.86243	CCG	POLA2	-	pfam_Pol_alpha_B_N,pirsf_DNA_pol_alpha_bsu	ENSG00000014138		0.493	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	-	0.00	101	0	C	NM_002689		65043451	+1	tier1	-	no_errors	ENST00000265465	ensembl	human	known	74_37	missense	17.14	58	12	SNP	0.993	T
POLA2	23649	genome.wustl.edu	37	11	65043451	65043451	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:65043451C>T	ENST00000265465.3	+	5	974	c.443C>T	c.(442-444)cCg>cTg	p.P148L	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	148	Pro/Ser/Thr-rich.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTACTCTCACCGTCAAGTTTC	0.493																																																	0													129.0	111.0	117.0					11																	65043451		2201	4297	6498	SO:0001583	missense	0			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.443C>T	11.37:g.65043451C>T	ENSP00000265465:p.Pro148Leu		B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.P148L	ENST00000265465.3	37	c.443	CCDS8098.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610170	0.87258	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	T	0.29142	1.58	5.71	5.71	0.89125	DNA polymerase alpha, subunit B N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.58312	-0.7658	10	0.87932	D	0	-15.1864	17.3707	0.87376	0.0:1.0:0.0:0.0	.	108;148	E9PIQ6;Q14181	.;DPOA2_HUMAN	L	148;108	ENSP00000265465:P148L	ENSP00000265465:P148L	P	+	2	0	POLA2	64800027	0.999000	0.42202	0.306000	0.25113	0.982000	0.71751	6.075000	0.71261	2.712000	0.92718	0.650000	0.86243	CCG	POLA2	-	pfam_Pol_alpha_B_N,pirsf_DNA_pol_alpha_bsu	ENSG00000014138		0.493	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	-	0.00	93	0	C	NM_002689		65043451	+1	tier1	-	no_errors	ENST00000265465	ensembl	human	known	74_37	missense	17.14	58	12	SNP	0.993	T
POLB	5423	genome.wustl.edu	37	8	42207570	42207570	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:42207570G>A	ENST00000265421.4	+	5	477	c.307G>A	c.(307-309)Gtt>Att	p.V103I	POLB_ENST00000538005.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	103					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CCTGACTCGAGTTAGTGGCAT	0.338								DNA polymerases (catalytic subunits)																																									0													144.0	132.0	136.0					8																	42207570		2203	4300	6503	SO:0001583	missense	0				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.307G>A	8.37:g.42207570G>A	ENSP00000265421:p.Val103Ile		B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	p.V103I	ENST00000265421.4	37	c.307	CCDS6129.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.93|18.93	3.728513|3.728513	0.69074|0.69074	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000521290|ENST00000265421;ENST00000518925	.|T;T	.|0.46063	.|1.02;0.88	5.43|5.43	5.43|5.43	0.79202|0.79202	.|DNA-directed DNA polymerase X (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);DNA polymerase lambda, fingers domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46814|0.46814	0.1412|0.1412	L|L	0.37750|0.37750	1.13|1.13	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28400	.|0.127;0.21	.|P;B	.|0.45506	.|0.483;0.341	T|T	0.31861|0.31861	-0.9928|-0.9928	5|10	.|0.18276	.|T	.|0.48	-14.1051|-14.1051	16.7199|16.7199	0.85407|0.85407	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|103;103	.|Q53EV2;P06746	.|.;DPOLB_HUMAN	N|I	33|103	.|ENSP00000265421:V103I;ENSP00000430784:V103I	.|ENSP00000265421:V103I	S|V	+|+	2|1	0|0	POLB|POLB	42326727|42326727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.826000|6.826000	0.75298|0.75298	2.538000|2.538000	0.85594|0.85594	0.591000|0.591000	0.81541|0.81541	AGT|GTT	POLB	-	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif	ENSG00000070501		0.338	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLB	HGNC	protein_coding	OTTHUMT00000377242.1	-	0.00	59	0	G	NM_002690		42207570	+1	tier1	-	no_errors	ENST00000265421	ensembl	human	known	74_37	missense	36.84	24	14	SNP	1.000	A
POLB	5423	genome.wustl.edu	37	8	42207570	42207570	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:42207570G>A	ENST00000265421.4	+	5	477	c.307G>A	c.(307-309)Gtt>Att	p.V103I	POLB_ENST00000538005.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	103					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CCTGACTCGAGTTAGTGGCAT	0.338								DNA polymerases (catalytic subunits)																																									0													144.0	132.0	136.0					8																	42207570		2203	4300	6503	SO:0001583	missense	0				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.307G>A	8.37:g.42207570G>A	ENSP00000265421:p.Val103Ile		B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	p.V103I	ENST00000265421.4	37	c.307	CCDS6129.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.93|18.93	3.728513|3.728513	0.69074|0.69074	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000521290|ENST00000265421;ENST00000518925	.|T;T	.|0.46063	.|1.02;0.88	5.43|5.43	5.43|5.43	0.79202|0.79202	.|DNA-directed DNA polymerase X (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);DNA polymerase lambda, fingers domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46814|0.46814	0.1412|0.1412	L|L	0.37750|0.37750	1.13|1.13	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28400	.|0.127;0.21	.|P;B	.|0.45506	.|0.483;0.341	T|T	0.31861|0.31861	-0.9928|-0.9928	5|10	.|0.18276	.|T	.|0.48	-14.1051|-14.1051	16.7199|16.7199	0.85407|0.85407	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|103;103	.|Q53EV2;P06746	.|.;DPOLB_HUMAN	N|I	33|103	.|ENSP00000265421:V103I;ENSP00000430784:V103I	.|ENSP00000265421:V103I	S|V	+|+	2|1	0|0	POLB|POLB	42326727|42326727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.826000|6.826000	0.75298|0.75298	2.538000|2.538000	0.85594|0.85594	0.591000|0.591000	0.81541|0.81541	AGT|GTT	POLB	-	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif	ENSG00000070501		0.338	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLB	HGNC	protein_coding	OTTHUMT00000377242.1	-	0.00	77	0	G	NM_002690		42207570	+1	tier1	-	no_errors	ENST00000265421	ensembl	human	known	74_37	missense	36.84	24	14	SNP	1.000	A
POLD2	5425	genome.wustl.edu	37	7	44156030	44156030	+	Splice_Site	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:44156030C>T	ENST00000406581.2	-	8	1509	c.860G>A	c.(859-861)aGc>aAc	p.S287N	POLD2_ENST00000223361.3_Splice_Site_p.S287N|POLD2_ENST00000452185.1_Splice_Site_p.S287N	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	287					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CTCGCTCACGCTCAGCTGCAG	0.602																																																	0													49.0	40.0	43.0					7																	44156030		2201	4296	6497	SO:0001630	splice_region_variant	0				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.861+1G>A	7.37:g.44156030C>T			A4D2J4|B2R5S4	Missense_Mutation	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.S287N	ENST00000406581.2	37	c.860	CCDS5477.1	7	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650640	0.67472	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436400;ENST00000436844	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.84	5.84	0.93424	DNA polymerase alpha/epsilon, subunit B (1);	0.145273	0.64402	D	0.000008	T	0.43100	0.1232	L	0.55834	1.745	0.43787	D	0.996325	D;P	0.55800	0.973;0.928	P;P	0.54815	0.761;0.663	T	0.04607	-1.0939	10	0.22109	T	0.4	-13.8968	16.3181	0.82935	0.0:0.8677:0.1323:0.0	.	287;287	P49005;F8W8R3	DPOD2_HUMAN;.	N	287;287;287;27;205	ENSP00000386105:S287N;ENSP00000223361:S287N;ENSP00000395231:S287N;ENSP00000416203:S205N	ENSP00000223361:S287N	S	-	2	0	POLD2	44122555	0.303000	0.24463	0.991000	0.47740	0.610000	0.37248	2.403000	0.44530	2.778000	0.95560	0.655000	0.94253	AGC	POLD2	-	pfam_DNA_pol_alpha/epsilon_bsu	ENSG00000106628		0.602	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2	-	0.00	42	0	C	NM_001127218	Missense_Mutation	44156030	-1	tier1	-	no_errors	ENST00000406581	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.989	T
POLD2	5425	genome.wustl.edu	37	7	44156030	44156030	+	Splice_Site	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:44156030C>T	ENST00000406581.2	-	8	1509	c.860G>A	c.(859-861)aGc>aAc	p.S287N	POLD2_ENST00000223361.3_Splice_Site_p.S287N|POLD2_ENST00000452185.1_Splice_Site_p.S287N	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	287					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CTCGCTCACGCTCAGCTGCAG	0.602																																																	0													49.0	40.0	43.0					7																	44156030		2201	4296	6497	SO:0001630	splice_region_variant	0				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.861+1G>A	7.37:g.44156030C>T			A4D2J4|B2R5S4	Missense_Mutation	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.S287N	ENST00000406581.2	37	c.860	CCDS5477.1	7	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650640	0.67472	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436400;ENST00000436844	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.84	5.84	0.93424	DNA polymerase alpha/epsilon, subunit B (1);	0.145273	0.64402	D	0.000008	T	0.43100	0.1232	L	0.55834	1.745	0.43787	D	0.996325	D;P	0.55800	0.973;0.928	P;P	0.54815	0.761;0.663	T	0.04607	-1.0939	10	0.22109	T	0.4	-13.8968	16.3181	0.82935	0.0:0.8677:0.1323:0.0	.	287;287	P49005;F8W8R3	DPOD2_HUMAN;.	N	287;287;287;27;205	ENSP00000386105:S287N;ENSP00000223361:S287N;ENSP00000395231:S287N;ENSP00000416203:S205N	ENSP00000223361:S287N	S	-	2	0	POLD2	44122555	0.303000	0.24463	0.991000	0.47740	0.610000	0.37248	2.403000	0.44530	2.778000	0.95560	0.655000	0.94253	AGC	POLD2	-	pfam_DNA_pol_alpha/epsilon_bsu	ENSG00000106628		0.602	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2	-	0.00	50	0	C	NM_001127218	Missense_Mutation	44156030	-1	tier1	-	no_errors	ENST00000406581	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.989	T
POLQ	10721	genome.wustl.edu	37	3	121179011	121179011	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:121179011A>C	ENST00000264233.5	-	25	7166	c.7038T>G	c.(7036-7038)cgT>cgG	p.R2346R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2346					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAATGAGACGACGATCATGGG	0.458								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													128.0	114.0	119.0					3																	121179011		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7038T>G	3.37:g.121179011A>C			O95160|Q6VMB5	Silent	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.R2346	ENST00000264233.5	37	c.7038	CCDS33833.1	3																																																																																			POLQ	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom	ENSG00000051341		0.458	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0.00	33	0	A	NM_199420		121179011	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.041	C
POLQ	10721	genome.wustl.edu	37	3	121179011	121179011	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:121179011A>C	ENST00000264233.5	-	25	7166	c.7038T>G	c.(7036-7038)cgT>cgG	p.R2346R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2346					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAATGAGACGACGATCATGGG	0.458								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													128.0	114.0	119.0					3																	121179011		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7038T>G	3.37:g.121179011A>C			O95160|Q6VMB5	Silent	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.R2346	ENST00000264233.5	37	c.7038	CCDS33833.1	3																																																																																			POLQ	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom	ENSG00000051341		0.458	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0.00	41	0	A	NM_199420		121179011	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.041	C
POLR3B	55703	genome.wustl.edu	37	12	106898014	106898014	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:106898014T>C	ENST00000228347.4	+	27	3476	c.3254T>C	c.(3253-3255)cTt>cCt	p.L1085P	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Missense_Mutation_p.L1027P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1085					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAGTGTGGACTTCTGGGGTAT	0.468																																																	0													258.0	229.0	239.0					12																	106898014		2203	4300	6503	SO:0001583	missense	0			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3254T>C	12.37:g.106898014T>C	ENSP00000228347:p.Leu1085Pro		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.L1085P	ENST00000228347.4	37	c.3254	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252076	0.80135	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.78595	-1.19;-1.19	5.55	5.55	0.83447	RNA polymerase Rpb2, domain 7 (1);	0.000000	0.85682	D	0.000000	D	0.92453	0.7604	H	0.98089	4.145	0.80722	D	1	D	0.59357	0.985	D	0.70016	0.967	D	0.95126	0.8251	10	0.87932	D	0	-18.1695	15.6932	0.77473	0.0:0.0:0.0:1.0	.	1085	Q9NW08	RPC2_HUMAN	P	1085;1027	ENSP00000228347:L1085P;ENSP00000445721:L1027P	ENSP00000228347:L1085P	L	+	2	0	POLR3B	105422144	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.107000	0.64212	0.528000	0.53228	CTT	POLR3B	-	pfam_RNA_pol_Rpb2_7	ENSG00000013503		0.468	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1	-	0.00	69	0	T	NM_018082		106898014	+1	tier1	-	no_errors	ENST00000228347	ensembl	human	known	74_37	missense	27.03	27	10	SNP	1.000	C
POLR3H	171568	genome.wustl.edu	37	22	41940092	41940093	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:41940092_41940093AC>CA	ENST00000355209.4	-	1	356_357	c.13_14GT>TG	c.(13-15)GTg>TGg	p.V5W	POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000396504.2_Missense_Mutation_p.V5W|POLR3H_ENST00000337566.5_Missense_Mutation_p.V5W|POLR3H_ENST00000407461.1_Missense_Mutation_p.V5W	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	5					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CACCATTTCCACCAGGACGAAC	0.629																																																	0																																										SO:0001583	missense	0			AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.13_14delinsCA	22.37:g.41940092_41940093delinsCA	ENSP00000347345:p.Val5Trp		B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Missense_Mutation	SNP	pfam_RNA_pol_III_Rbc25,pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N,superfamily_NA-bd_OB-fold,tigrfam_RNAP_E/RPC8	p.V5G|p.V5L	ENST00000355209.4	37	c.14|c.13	CCDS14018.1	22																																																																																			POLR3H	-	superfamily_RNA_pol_Rpb7_N,tigrfam_RNAP_E/RPC8	ENSG00000100413		0.629	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3H	HGNC	protein_coding	OTTHUMT00000320701.1	-	0.00	169|167	0	A|C	NM_138338		41940092|41940093	-1	tier1	-	no_errors	ENST00000355209	ensembl	human	known	74_37	missense	8.57|8.70	128|126	12	SNP	1.000	C|A
POLR3H	171568	genome.wustl.edu	37	22	41940092	41940093	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:41940092_41940093AC>CA	ENST00000355209.4	-	1	356_357	c.13_14GT>TG	c.(13-15)GTg>TGg	p.V5W	POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000396504.2_Missense_Mutation_p.V5W|POLR3H_ENST00000337566.5_Missense_Mutation_p.V5W|POLR3H_ENST00000407461.1_Missense_Mutation_p.V5W	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	5					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CACCATTTCCACCAGGACGAAC	0.629																																																	0																																										SO:0001583	missense	0			AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.13_14delinsCA	22.37:g.41940092_41940093delinsCA	ENSP00000347345:p.Val5Trp		B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Missense_Mutation	SNP	pfam_RNA_pol_III_Rbc25,pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N,superfamily_NA-bd_OB-fold,tigrfam_RNAP_E/RPC8	p.V5G|p.V5L	ENST00000355209.4	37	c.14|c.13	CCDS14018.1	22																																																																																			POLR3H	-	superfamily_RNA_pol_Rpb7_N,tigrfam_RNAP_E/RPC8	ENSG00000100413		0.629	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3H	HGNC	protein_coding	OTTHUMT00000320701.1	-	0.00	169|198	0	A|C	NM_138338		41940092|41940093	-1	tier1	-	no_errors	ENST00000355209	ensembl	human	known	74_37	missense	8.57|8.70	128|126	12	SNP	1.000	C|A
POLR3H	171568	genome.wustl.edu	37	22	41940092	41940093	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:41940092_41940093AC>CA	ENST00000355209.4	-	1	356_357	c.13_14GT>TG	c.(13-15)GTg>TGg	p.V5W	POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000396504.2_Missense_Mutation_p.V5W|POLR3H_ENST00000337566.5_Missense_Mutation_p.V5W|POLR3H_ENST00000407461.1_Missense_Mutation_p.V5W	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	5					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CACCATTTCCACCAGGACGAAC	0.629																																																	0																																										SO:0001583	missense	0			AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.13_14delinsCA	22.37:g.41940092_41940093delinsCA	ENSP00000347345:p.Val5Trp		B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Missense_Mutation	SNP	pfam_RNA_pol_III_Rbc25,pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N,superfamily_NA-bd_OB-fold,tigrfam_RNAP_E/RPC8	p.V5G|p.V5L	ENST00000355209.4	37	c.14|c.13	CCDS14018.1	22																																																																																			POLR3H	-	superfamily_RNA_pol_Rpb7_N,tigrfam_RNAP_E/RPC8	ENSG00000100413		0.629	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3H	HGNC	protein_coding	OTTHUMT00000320701.1	-	0.00	198|167	0	A|C	NM_138338		41940092|41940093	-1	tier1	-	no_errors	ENST00000355209	ensembl	human	known	74_37	missense	8.57|8.70	128|126	12	SNP	1.000	C|A
POLR3H	171568	genome.wustl.edu	37	22	41940092	41940093	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:41940092_41940093AC>CA	ENST00000355209.4	-	1	356_357	c.13_14GT>TG	c.(13-15)GTg>TGg	p.V5W	POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000396504.2_Missense_Mutation_p.V5W|POLR3H_ENST00000337566.5_Missense_Mutation_p.V5W|POLR3H_ENST00000407461.1_Missense_Mutation_p.V5W	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	5					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CACCATTTCCACCAGGACGAAC	0.629																																																	0																																										SO:0001583	missense	0			AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.13_14delinsCA	22.37:g.41940092_41940093delinsCA	ENSP00000347345:p.Val5Trp		B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Missense_Mutation	SNP	pfam_RNA_pol_III_Rbc25,pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N,superfamily_NA-bd_OB-fold,tigrfam_RNAP_E/RPC8	p.V5G|p.V5L	ENST00000355209.4	37	c.14|c.13	CCDS14018.1	22																																																																																			POLR3H	-	superfamily_RNA_pol_Rpb7_N,tigrfam_RNAP_E/RPC8	ENSG00000100413		0.629	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3H	HGNC	protein_coding	OTTHUMT00000320701.1	-	0.00	198	0	A|C	NM_138338		41940092|41940093	-1	tier1	-	no_errors	ENST00000355209	ensembl	human	known	74_37	missense	8.57|8.70	128|126	12	SNP	1.000	C|A
POTEG	404785	genome.wustl.edu	37	14	19571402	19571402	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:19571402A>G	ENST00000409832.3	+	7	1233	c.1181A>G	c.(1180-1182)gAa>gGa	p.E394G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	394										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAGGAAGTGAAAATAGCCAG	0.303																																																	0													20.0	26.0	24.0					14																	19571402		2056	3974	6030	SO:0001583	missense	0				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1181A>G	14.37:g.19571402A>G	ENSP00000386971:p.Glu394Gly		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E394G	ENST00000409832.3	37	c.1181	CCDS32018.1	14	.	.	.	.	.	.	.	.	.	.	a	7.651	0.682960	0.14907	.	.	ENSG00000222036	ENST00000409832	T	0.28895	1.59	1.18	1.18	0.20946	.	.	.	.	.	T	0.19406	0.0466	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.19844	-1.0293	9	0.48119	T	0.1	.	4.5755	0.12232	1.0:0.0:0.0:0.0	.	394	Q6S5H5	POTEG_HUMAN	G	394	ENSP00000386971:E394G	ENSP00000386971:E394G	E	+	2	0	POTEG	18641402	0.725000	0.28048	0.148000	0.22405	0.358000	0.29455	2.073000	0.41519	0.792000	0.33850	0.155000	0.16302	GAA	POTEG	-	NULL	ENSG00000222036		0.303	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	HGNC	protein_coding	OTTHUMT00000408579.1	-	0.00	600	0	A	NM_001005356		19571402	+1	tier1	-	no_errors	ENST00000409832	ensembl	human	known	74_37	missense	8.56	598	56	SNP	0.221	G
POTEG	404785	genome.wustl.edu	37	14	19571402	19571402	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:19571402A>G	ENST00000409832.3	+	7	1233	c.1181A>G	c.(1180-1182)gAa>gGa	p.E394G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	394										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAGGAAGTGAAAATAGCCAG	0.303																																																	0													20.0	26.0	24.0					14																	19571402		2056	3974	6030	SO:0001583	missense	0				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1181A>G	14.37:g.19571402A>G	ENSP00000386971:p.Glu394Gly		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E394G	ENST00000409832.3	37	c.1181	CCDS32018.1	14	.	.	.	.	.	.	.	.	.	.	a	7.651	0.682960	0.14907	.	.	ENSG00000222036	ENST00000409832	T	0.28895	1.59	1.18	1.18	0.20946	.	.	.	.	.	T	0.19406	0.0466	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.19844	-1.0293	9	0.48119	T	0.1	.	4.5755	0.12232	1.0:0.0:0.0:0.0	.	394	Q6S5H5	POTEG_HUMAN	G	394	ENSP00000386971:E394G	ENSP00000386971:E394G	E	+	2	0	POTEG	18641402	0.725000	0.28048	0.148000	0.22405	0.358000	0.29455	2.073000	0.41519	0.792000	0.33850	0.155000	0.16302	GAA	POTEG	-	NULL	ENSG00000222036		0.303	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	HGNC	protein_coding	OTTHUMT00000408579.1	-	0.00	945	0	A	NM_001005356		19571402	+1	tier1	-	no_errors	ENST00000409832	ensembl	human	known	74_37	missense	8.56	598	56	SNP	0.221	G
POU3F2	5454	genome.wustl.edu	37	6	99282803	99282803	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:99282803C>A	ENST00000328345.5	+	1	224	c.54C>A	c.(52-54)atC>atA	p.I18I		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	18					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCGCCTCCATCGTGCACGCCG	0.692																																																	0													14.0	18.0	17.0					6																	99282803		2120	4187	6307	SO:0001819	synonymous_variant	0			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.54C>A	6.37:g.99282803C>A			Q14960|Q86V54|Q9UJL0	Silent	SNP	pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.I18	ENST00000328345.5	37	c.54	CCDS5040.1	6																																																																																			POU3F2	-	pirsf_Transcription_factor_POU	ENSG00000184486		0.692	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	HGNC	protein_coding	OTTHUMT00000041586.2	-	0.00	37	0	C			99282803	+1	tier1	-	no_errors	ENST00000328345	ensembl	human	known	74_37	silent	68.42	6	13	SNP	1.000	A
POU3F2	5454	genome.wustl.edu	37	6	99282803	99282803	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:99282803C>A	ENST00000328345.5	+	1	224	c.54C>A	c.(52-54)atC>atA	p.I18I		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	18					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCGCCTCCATCGTGCACGCCG	0.692																																																	0													14.0	18.0	17.0					6																	99282803		2120	4187	6307	SO:0001819	synonymous_variant	0			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.54C>A	6.37:g.99282803C>A			Q14960|Q86V54|Q9UJL0	Silent	SNP	pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.I18	ENST00000328345.5	37	c.54	CCDS5040.1	6																																																																																			POU3F2	-	pirsf_Transcription_factor_POU	ENSG00000184486		0.692	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	HGNC	protein_coding	OTTHUMT00000041586.2	-	0.00	43	0	C			99282803	+1	tier1	-	no_errors	ENST00000328345	ensembl	human	known	74_37	silent	68.42	6	13	SNP	1.000	A
POU4F3	5459	genome.wustl.edu	37	5	145719175	145719175	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:145719175C>T	ENST00000230732.4	+	2	274	c.185C>T	c.(184-186)gCg>gTg	p.A62V	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	62					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTCTGGCGGCGGTGGATATC	0.602																																																	0													82.0	83.0	83.0					5																	145719175		2203	4300	6503	SO:0001583	missense	0			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.185C>T	5.37:g.145719175C>T	ENSP00000230732:p.Ala62Val		O60557|Q2M3F8	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A62V	ENST00000230732.4	37	c.185	CCDS4281.1	5	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991160	0.74703	.	.	ENSG00000091010	ENST00000230732	T	0.27557	1.66	4.63	4.63	0.57726	.	0.066998	0.64402	D	0.000017	T	0.39462	0.1079	M	0.83953	2.67	0.58432	D	0.999999	D	0.54601	0.967	B	0.40602	0.334	T	0.55761	-0.8090	10	0.62326	D	0.03	.	16.4058	0.83669	0.0:1.0:0.0:0.0	.	62	Q15319	PO4F3_HUMAN	V	62	ENSP00000230732:A62V	ENSP00000230732:A62V	A	+	2	0	POU4F3	145699368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.765000	0.68834	2.391000	0.81399	0.462000	0.41574	GCG	POU4F3	-	NULL	ENSG00000091010		0.602	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	-	0.00	100	0	C	NM_002700		145719175	+1	tier1	-	no_errors	ENST00000230732	ensembl	human	known	74_37	missense	31.51	50	23	SNP	1.000	T
POU4F3	5459	genome.wustl.edu	37	5	145719175	145719175	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:145719175C>T	ENST00000230732.4	+	2	274	c.185C>T	c.(184-186)gCg>gTg	p.A62V	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	62					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTCTGGCGGCGGTGGATATC	0.602																																																	0													82.0	83.0	83.0					5																	145719175		2203	4300	6503	SO:0001583	missense	0			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.185C>T	5.37:g.145719175C>T	ENSP00000230732:p.Ala62Val		O60557|Q2M3F8	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A62V	ENST00000230732.4	37	c.185	CCDS4281.1	5	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991160	0.74703	.	.	ENSG00000091010	ENST00000230732	T	0.27557	1.66	4.63	4.63	0.57726	.	0.066998	0.64402	D	0.000017	T	0.39462	0.1079	M	0.83953	2.67	0.58432	D	0.999999	D	0.54601	0.967	B	0.40602	0.334	T	0.55761	-0.8090	10	0.62326	D	0.03	.	16.4058	0.83669	0.0:1.0:0.0:0.0	.	62	Q15319	PO4F3_HUMAN	V	62	ENSP00000230732:A62V	ENSP00000230732:A62V	A	+	2	0	POU4F3	145699368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.765000	0.68834	2.391000	0.81399	0.462000	0.41574	GCG	POU4F3	-	NULL	ENSG00000091010		0.602	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	-	0.00	127	0	C	NM_002700		145719175	+1	tier1	-	no_errors	ENST00000230732	ensembl	human	known	74_37	missense	31.51	50	23	SNP	1.000	T
PQBP1	10084	genome.wustl.edu	37	X	48760385	48760385	+	3'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:48760385G>T	ENST00000376563.1	+	0	1022				PQBP1_ENST00000376566.4_3'UTR|PQBP1_ENST00000218224.4_3'UTR|PQBP1_ENST00000247140.4_3'UTR|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000447146.2_3'UTR|PQBP1_ENST00000396763.1_3'UTR	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1						alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CTGGCCCTGGGTTAAAATAAA	0.557																																																	0													9.0	11.0	10.0					X																	48760385		2199	4280	6479	SO:0001624	3_prime_UTR_variant	0			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.*24G>T	X.37:g.48760385G>T			Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	RNA	SNP	-	NULL	ENST00000376563.1	37	NULL	CCDS14309.1	X																																																																																			PQBP1	-	-	ENSG00000102103		0.557	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding	OTTHUMT00000060777.1	-	0.00	44	0	G	NM_001032381.1		48760385	+1	tier1	-	no_errors	ENST00000473764	ensembl	human	known	74_37	rna	82.35	6	28	SNP	0.046	T
PQBP1	10084	genome.wustl.edu	37	X	48760385	48760385	+	3'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:48760385G>T	ENST00000376563.1	+	0	1022				PQBP1_ENST00000376566.4_3'UTR|PQBP1_ENST00000218224.4_3'UTR|PQBP1_ENST00000247140.4_3'UTR|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000447146.2_3'UTR|PQBP1_ENST00000396763.1_3'UTR	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1						alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CTGGCCCTGGGTTAAAATAAA	0.557																																																	0													9.0	11.0	10.0					X																	48760385		2199	4280	6479	SO:0001624	3_prime_UTR_variant	0			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.*24G>T	X.37:g.48760385G>T			Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	RNA	SNP	-	NULL	ENST00000376563.1	37	NULL	CCDS14309.1	X																																																																																			PQBP1	-	-	ENSG00000102103		0.557	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding	OTTHUMT00000060777.1	-	0.00	48	0	G	NM_001032381.1		48760385	+1	tier1	-	no_errors	ENST00000473764	ensembl	human	known	74_37	rna	82.35	6	28	SNP	0.046	T
PRAMEF1	65121	genome.wustl.edu	37	1	12855998	12855998	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:12855998T>A	ENST00000332296.7	+	4	1381	c.1278T>A	c.(1276-1278)aaT>aaA	p.N426K	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.N181K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	426					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCGTGTCAATTGGGAGATCT	0.572																																																	0													109.0	109.0	109.0					1																	12855998		2202	4293	6495	SO:0001583	missense	0			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1278T>A	1.37:g.12855998T>A	ENSP00000332134:p.Asn426Lys		Q9UQP2	Missense_Mutation	SNP	NULL	p.N426K	ENST00000332296.7	37	c.1278	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	4.358	0.065967	0.08388	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.44083	0.93;0.93	1.56	-3.12	0.05282	.	1.488980	0.04000	N	0.296263	T	0.24005	0.0581	N	0.25647	0.755	0.09310	N	1	B	0.16396	0.017	B	0.20384	0.029	T	0.09729	-1.0661	10	0.10902	T	0.67	.	2.6124	0.04895	0.4804:0.3347:0.0:0.1849	.	426	O95521	PRAM1_HUMAN	K	426;181	ENSP00000332134:N426K;ENSP00000383616:N181K	ENSP00000332134:N426K	N	+	3	2	PRAMEF1	12778585	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.352000	0.00501	-0.761000	0.04670	0.172000	0.16884	AAT	PRAMEF1	-	NULL	ENSG00000116721		0.572	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	-	0.00	453	0	T	NM_023013		12855998	+1	tier1	-	no_errors	ENST00000332296	ensembl	human	known	74_37	missense	9.68	308	33	SNP	0.000	A
PRAMEF1	65121	genome.wustl.edu	37	1	12855998	12855998	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:12855998T>A	ENST00000332296.7	+	4	1381	c.1278T>A	c.(1276-1278)aaT>aaA	p.N426K	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.N181K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	426					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCGTGTCAATTGGGAGATCT	0.572																																																	0													109.0	109.0	109.0					1																	12855998		2202	4293	6495	SO:0001583	missense	0			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1278T>A	1.37:g.12855998T>A	ENSP00000332134:p.Asn426Lys		Q9UQP2	Missense_Mutation	SNP	NULL	p.N426K	ENST00000332296.7	37	c.1278	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	4.358	0.065967	0.08388	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.44083	0.93;0.93	1.56	-3.12	0.05282	.	1.488980	0.04000	N	0.296263	T	0.24005	0.0581	N	0.25647	0.755	0.09310	N	1	B	0.16396	0.017	B	0.20384	0.029	T	0.09729	-1.0661	10	0.10902	T	0.67	.	2.6124	0.04895	0.4804:0.3347:0.0:0.1849	.	426	O95521	PRAM1_HUMAN	K	426;181	ENSP00000332134:N426K;ENSP00000383616:N181K	ENSP00000332134:N426K	N	+	3	2	PRAMEF1	12778585	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.352000	0.00501	-0.761000	0.04670	0.172000	0.16884	AAT	PRAMEF1	-	NULL	ENSG00000116721		0.572	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	-	0.00	503	0	T	NM_023013		12855998	+1	tier1	-	no_errors	ENST00000332296	ensembl	human	known	74_37	missense	9.68	308	33	SNP	0.000	A
PRAMEF6	440561	genome.wustl.edu	37	1	13001286	13001286	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:13001286T>G	ENST00000376189.1	-	3	496	c.397A>C	c.(397-399)Aca>Cca	p.T133P	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.T133P	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	133					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCACTGGTGTTTTGTTCCTC	0.498																																																	0													410.0	685.0	587.0					1																	13001286		1510	2708	4218	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.397A>C	1.37:g.13001286T>G	ENSP00000365360:p.Thr133Pro		A0AUJ9	Missense_Mutation	SNP	NULL	p.T133P	ENST00000376189.1	37	c.397	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	1.653	-0.513582	0.04200	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.05081	3.5;3.5;3.5	1.37	-2.73	0.05950	.	3.413660	0.01687	N	0.026476	T	0.01870	0.0059	N	0.00462	-1.47	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.41431	-0.9509	10	0.35671	T	0.21	.	4.3043	0.10938	0.0:0.4378:0.3463:0.2159	.	133	Q5VXH4	PRAM6_HUMAN	P	133	ENSP00000365360:T133P;ENSP00000401281:T133P;ENSP00000347211:T133P	ENSP00000347211:T133P	T	-	1	0	PRAMEF6	12923873	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	-1.473000	0.01881	-0.911000	0.02809	ACA	PRAMEF6	-	NULL	ENSG00000232423		0.498	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0.00	749	0	T	NM_001010889		13001286	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	missense	9.77	387	42	SNP	0.000	G
PRAMEF6	440561	genome.wustl.edu	37	1	13001306	13001306	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:13001306A>C	ENST00000376189.1	-	3	476	c.377T>G	c.(376-378)cTc>cGc	p.L126R	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.L126R	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	126					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGCATTGAGGAAGCACCC	0.498																																																	0													329.0	520.0	451.0					1																	13001306		1510	2707	4217	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.377T>G	1.37:g.13001306A>C	ENSP00000365360:p.Leu126Arg		A0AUJ9	Missense_Mutation	SNP	NULL	p.L126R	ENST00000376189.1	37	c.377	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	1.510	-0.549617	0.03996	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.04758	3.56;3.56;3.56	1.52	-0.853	0.10709	.	8.556770	0.00597	N	0.000366	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.31245	0.126	T	0.39121	-0.9629	10	0.35671	T	0.21	.	4.3259	0.11039	0.4152:0.0:0.5848:0.0	.	126	Q5VXH4	PRAM6_HUMAN	R	126	ENSP00000365360:L126R;ENSP00000401281:L126R;ENSP00000347211:L126R	ENSP00000347211:L126R	L	-	2	0	PRAMEF6	12923893	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.643000	0.05421	-0.178000	0.10672	-0.636000	0.03981	CTC	PRAMEF6	-	NULL	ENSG00000232423		0.498	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0.00	600	0	A	NM_001010889		13001306	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	missense	12.29	313	44	SNP	0.000	C
PRAMEF6	440561	genome.wustl.edu	37	1	13001306	13001306	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:13001306A>C	ENST00000376189.1	-	3	476	c.377T>G	c.(376-378)cTc>cGc	p.L126R	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.L126R	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	126					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGCATTGAGGAAGCACCC	0.498																																																	0													329.0	520.0	451.0					1																	13001306		1510	2707	4217	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.377T>G	1.37:g.13001306A>C	ENSP00000365360:p.Leu126Arg		A0AUJ9	Missense_Mutation	SNP	NULL	p.L126R	ENST00000376189.1	37	c.377	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	1.510	-0.549617	0.03996	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.04758	3.56;3.56;3.56	1.52	-0.853	0.10709	.	8.556770	0.00597	N	0.000366	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.31245	0.126	T	0.39121	-0.9629	10	0.35671	T	0.21	.	4.3259	0.11039	0.4152:0.0:0.5848:0.0	.	126	Q5VXH4	PRAM6_HUMAN	R	126	ENSP00000365360:L126R;ENSP00000401281:L126R;ENSP00000347211:L126R	ENSP00000347211:L126R	L	-	2	0	PRAMEF6	12923893	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.643000	0.05421	-0.178000	0.10672	-0.636000	0.03981	CTC	PRAMEF6	-	NULL	ENSG00000232423		0.498	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0.00	629	0	A	NM_001010889		13001306	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	missense	12.29	313	44	SNP	0.000	C
PRB4	5545	genome.wustl.edu	37	12	11461347	11461347	+	Missense_Mutation	SNP	T	T	G	rs201691090		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:11461347T>G	ENST00000535904.1	-	3	603	c.570A>C	c.(568-570)gaA>gaC	p.E190D	PRB4_ENST00000445719.2_Missense_Mutation_p.E121D|PRB4_ENST00000279575.1_Missense_Mutation_p.E190D			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	211	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCTTGTTGCCTTCTTGTTGGG	0.607										HNSCC(22;0.051)																																							0													163.0	176.0	172.0					12																	11461347		2203	4300	6503	SO:0001583	missense	0				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.570A>C	12.37:g.11461347T>G	ENSP00000442834:p.Glu190Asp		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	NULL	p.E190D	ENST00000535904.1	37	c.570	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	2.466	-0.322977	0.05350	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04809	3.55;3.55;3.57	0.916	-0.471	0.12119	.	.	.	.	.	T	0.03095	0.0091	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.48570	-0.9024	9	0.15952	T	0.53	.	3.6298	0.08127	0.0:0.0:0.4148:0.5852	.	190	E9PAL0	.	D	190;190;121	ENSP00000279575:E190D;ENSP00000442834:E190D;ENSP00000412740:E121D	ENSP00000279575:E190D	E	-	3	2	PRB4	11352614	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.998000	0.03701	-0.162000	0.10964	-0.842000	0.03052	GAA	PRB4	-	NULL	ENSG00000230657		0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	-	0.00	156	0	T	NM_002723		11461347	-1	tier1	-	no_errors	ENST00000279575	ensembl	human	known	74_37	missense	20.66	96	25	SNP	0.000	G
PRDM11	56981	genome.wustl.edu	37	11	45204671	45204671	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:45204671G>T	ENST00000530656.1	+	4	585	c.585G>T	c.(583-585)tgG>tgT	p.W195C	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.W161C|PRDM11_ENST00000263765.4_Missense_Mutation_p.W195C			Q9NQV5	PRD11_HUMAN	PR domain containing 11	195	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCTTCTCCTGGCTGGTGAGTG	0.577											OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(118;1511 1736 6472 36603 43224)												0													42.0	43.0	43.0					11																	45204671		2203	4299	6502	SO:0001583	missense	0			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.585G>T	11.37:g.45204671G>T	ENSP00000435976:p.Trp195Cys	929	Q8N9F1	Missense_Mutation	SNP	pfscan_SET_dom	p.W195C	ENST00000530656.1	37	c.585		11	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747467	0.69533	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.02	5.02	0.67125	SET domain (2);	0.000000	0.64402	D	0.000019	T	0.76471	0.3992	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81586	-0.0865	10	0.87932	D	0	-19.2598	16.509	0.84279	0.0:0.0:1.0:0.0	.	195	Q9NQV5	PRD11_HUMAN	C	195;195;161;161	ENSP00000263765:W195C;ENSP00000435976:W195C;ENSP00000431898:W161C;ENSP00000394314:W161C	ENSP00000263765:W195C	W	+	3	0	PRDM11	45161247	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.696000	0.91302	2.316000	0.78162	0.484000	0.47621	TGG	PRDM11	-	pfscan_SET_dom	ENSG00000019485		0.577	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	-	0.00	20	0	G	NM_020229		45204671	+1	tier1	-	no_errors	ENST00000263765	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	T
PRDM11	56981	genome.wustl.edu	37	11	45204671	45204671	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:45204671G>T	ENST00000530656.1	+	4	585	c.585G>T	c.(583-585)tgG>tgT	p.W195C	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.W161C|PRDM11_ENST00000263765.4_Missense_Mutation_p.W195C			Q9NQV5	PRD11_HUMAN	PR domain containing 11	195	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCTTCTCCTGGCTGGTGAGTG	0.577											OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(118;1511 1736 6472 36603 43224)												0													42.0	43.0	43.0					11																	45204671		2203	4299	6502	SO:0001583	missense	0			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.585G>T	11.37:g.45204671G>T	ENSP00000435976:p.Trp195Cys	929	Q8N9F1	Missense_Mutation	SNP	pfscan_SET_dom	p.W195C	ENST00000530656.1	37	c.585		11	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747467	0.69533	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.02	5.02	0.67125	SET domain (2);	0.000000	0.64402	D	0.000019	T	0.76471	0.3992	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81586	-0.0865	10	0.87932	D	0	-19.2598	16.509	0.84279	0.0:0.0:1.0:0.0	.	195	Q9NQV5	PRD11_HUMAN	C	195;195;161;161	ENSP00000263765:W195C;ENSP00000435976:W195C;ENSP00000431898:W161C;ENSP00000394314:W161C	ENSP00000263765:W195C	W	+	3	0	PRDM11	45161247	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.696000	0.91302	2.316000	0.78162	0.484000	0.47621	TGG	PRDM11	-	pfscan_SET_dom	ENSG00000019485		0.577	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	-	0.00	27	0	G	NM_020229		45204671	+1	tier1	-	no_errors	ENST00000263765	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	T
PRDX3	10935	genome.wustl.edu	37	10	120933985	120933985	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:120933985G>A	ENST00000298510.2	-	3	331	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	PRDX3_ENST00000356951.3_Missense_Mutation_p.L79F	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	97	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|maternal placenta development (GO:0001893)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of kinase activity (GO:0033673)|peptidyl-cysteine oxidation (GO:0018171)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of mitochondrial membrane potential (GO:0051881)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	alkyl hydroperoxide reductase activity (GO:0008785)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|kinase binding (GO:0019900)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		TAGAAGAAAAGCACCAAATAT	0.413																																					Pancreas(36;562 1096 2447 42526)												0													88.0	80.0	83.0					10																	120933985		2203	4300	6503	SO:0001583	missense	0			D49396	CCDS7611.1	10q25-q26	2010-11-24			ENSG00000165672	ENSG00000165672			9354	protein-coding gene	gene with protein product		604769	"""antioxidant protein 1"""	AOP1		7733872, 9363753	Standard	NM_006793		Approved	MER5, AOP-1, SP-22	uc001lec.3	P30048	OTTHUMG00000019146	ENST00000298510.2:c.289C>T	10.37:g.120933985G>A	ENSP00000298510:p.Leu97Phe		B2R7Z0|D3DRC9|E9PH29|P35690|Q0D2H1|Q13776|Q5T5V2|Q96HK4	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.L97F	ENST00000298510.2	37	c.289	CCDS7611.1	10	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896750	0.72639	.	.	ENSG00000165672	ENST00000356951;ENST00000298510	T;T	0.28069	1.63;1.63	4.89	4.89	0.63831	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	L	0.58583	1.82	0.80722	D	1	P	0.42620	0.785	P	0.45794	0.493	T	0.10064	-1.0646	10	0.23891	T	0.37	-23.4261	18.4371	0.90650	0.0:0.0:1.0:0.0	.	97	P30048	PRDX3_HUMAN	F	79;97	ENSP00000349432:L79F;ENSP00000298510:L97F	ENSP00000298510:L97F	L	-	1	0	PRDX3	120923975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.664000	0.74437	2.415000	0.81967	0.655000	0.94253	CTT	PRDX3	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000165672		0.413	PRDX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX3	HGNC	protein_coding	OTTHUMT00000050639.1	-	0.00	70	0	G	NM_006793		120933985	-1	tier1	-	no_errors	ENST00000298510	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	A
PRDX3	10935	genome.wustl.edu	37	10	120933985	120933985	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:120933985G>A	ENST00000298510.2	-	3	331	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	PRDX3_ENST00000356951.3_Missense_Mutation_p.L79F	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	97	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|maternal placenta development (GO:0001893)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of kinase activity (GO:0033673)|peptidyl-cysteine oxidation (GO:0018171)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of mitochondrial membrane potential (GO:0051881)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	alkyl hydroperoxide reductase activity (GO:0008785)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|kinase binding (GO:0019900)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		TAGAAGAAAAGCACCAAATAT	0.413																																					Pancreas(36;562 1096 2447 42526)												0													88.0	80.0	83.0					10																	120933985		2203	4300	6503	SO:0001583	missense	0			D49396	CCDS7611.1	10q25-q26	2010-11-24			ENSG00000165672	ENSG00000165672			9354	protein-coding gene	gene with protein product		604769	"""antioxidant protein 1"""	AOP1		7733872, 9363753	Standard	NM_006793		Approved	MER5, AOP-1, SP-22	uc001lec.3	P30048	OTTHUMG00000019146	ENST00000298510.2:c.289C>T	10.37:g.120933985G>A	ENSP00000298510:p.Leu97Phe		B2R7Z0|D3DRC9|E9PH29|P35690|Q0D2H1|Q13776|Q5T5V2|Q96HK4	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.L97F	ENST00000298510.2	37	c.289	CCDS7611.1	10	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896750	0.72639	.	.	ENSG00000165672	ENST00000356951;ENST00000298510	T;T	0.28069	1.63;1.63	4.89	4.89	0.63831	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	L	0.58583	1.82	0.80722	D	1	P	0.42620	0.785	P	0.45794	0.493	T	0.10064	-1.0646	10	0.23891	T	0.37	-23.4261	18.4371	0.90650	0.0:0.0:1.0:0.0	.	97	P30048	PRDX3_HUMAN	F	79;97	ENSP00000349432:L79F;ENSP00000298510:L97F	ENSP00000298510:L97F	L	-	1	0	PRDX3	120923975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.664000	0.74437	2.415000	0.81967	0.655000	0.94253	CTT	PRDX3	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000165672		0.413	PRDX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX3	HGNC	protein_coding	OTTHUMT00000050639.1	-	0.00	72	0	G	NM_006793		120933985	-1	tier1	-	no_errors	ENST00000298510	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	A
PREX2	80243	genome.wustl.edu	37	8	68993022	68993022	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:68993022C>T	ENST00000288368.4	+	17	2104	c.1827C>T	c.(1825-1827)gaC>gaT	p.D609D	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	609	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GATTAGAAGACAAAAATAAAG	0.264																																																	0													67.0	73.0	71.0					8																	68993022		2202	4298	6500	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1827C>T	8.37:g.68993022C>T			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D609	ENST00000288368.4	37	c.1827	CCDS6201.1	8																																																																																			PREX2	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000046889		0.264	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0.00	117	0	C	NM_025170		68993022	+1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	silent	31.52	63	29	SNP	1.000	T
PRKD1	5587	genome.wustl.edu	37	14	30105588	30105588	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:30105588T>G	ENST00000331968.5	-	7	1327	c.1098A>C	c.(1096-1098)caA>caC	p.Q366H	PRKD1_ENST00000551644.1_5'Flank|PRKD1_ENST00000415220.2_Missense_Mutation_p.Q374H	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	366					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTCTGCATCTTGGACCATTG	0.522																																																	0													352.0	257.0	289.0					14																	30105588		2203	4300	6503	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1098A>C	14.37:g.30105588T>G	ENSP00000333568:p.Gln366His		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.Q366H	ENST00000331968.5	37	c.1098	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	T	13.19	2.162220	0.38217	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.65916	-0.18;-0.18	6.17	-3.68	0.04463	.	0.490881	0.21071	N	0.080662	T	0.29817	0.0745	N	0.03608	-0.345	0.28761	N	0.900928	B	0.02656	0.0	B	0.01281	0.0	T	0.08848	-1.0702	10	0.48119	T	0.1	-14.1855	6.5672	0.22519	0.1018:0.4925:0.0955:0.3102	.	366	Q15139	KPCD1_HUMAN	H	366;374	ENSP00000333568:Q366H;ENSP00000390535:Q374H	ENSP00000333568:Q366H	Q	-	3	2	PRKD1	29175339	0.016000	0.18221	0.967000	0.41034	0.922000	0.55478	-0.942000	0.03921	-0.548000	0.06199	-0.256000	0.11100	CAA	PRKD1	-	NULL	ENSG00000184304		0.522	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0.00	46	0	T	NM_002742		30105588	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.293	G
PRKD1	5587	genome.wustl.edu	37	14	30105588	30105588	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:30105588T>G	ENST00000331968.5	-	7	1327	c.1098A>C	c.(1096-1098)caA>caC	p.Q366H	PRKD1_ENST00000551644.1_5'Flank|PRKD1_ENST00000415220.2_Missense_Mutation_p.Q374H	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	366					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTCTGCATCTTGGACCATTG	0.522																																																	0													352.0	257.0	289.0					14																	30105588		2203	4300	6503	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1098A>C	14.37:g.30105588T>G	ENSP00000333568:p.Gln366His		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.Q366H	ENST00000331968.5	37	c.1098	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	T	13.19	2.162220	0.38217	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.65916	-0.18;-0.18	6.17	-3.68	0.04463	.	0.490881	0.21071	N	0.080662	T	0.29817	0.0745	N	0.03608	-0.345	0.28761	N	0.900928	B	0.02656	0.0	B	0.01281	0.0	T	0.08848	-1.0702	10	0.48119	T	0.1	-14.1855	6.5672	0.22519	0.1018:0.4925:0.0955:0.3102	.	366	Q15139	KPCD1_HUMAN	H	366;374	ENSP00000333568:Q366H;ENSP00000390535:Q374H	ENSP00000333568:Q366H	Q	-	3	2	PRKD1	29175339	0.016000	0.18221	0.967000	0.41034	0.922000	0.55478	-0.942000	0.03921	-0.548000	0.06199	-0.256000	0.11100	CAA	PRKD1	-	NULL	ENSG00000184304		0.522	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0.00	53	0	T	NM_002742		30105588	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.293	G
PRMT9	90826	genome.wustl.edu	37	4	148575339	148575339	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:148575339C>G	ENST00000322396.6	-	9	1951	c.1709G>C	c.(1708-1710)gGa>gCa	p.G570A	PRMT10_ENST00000541232.1_Missense_Mutation_p.G457A|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		570	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATTACTCTGTCCAGTTCCAGA	0.438																																																	0													142.0	131.0	135.0					4																	148575339		2203	4300	6503	SO:0001583	missense	0																														ENST00000322396.6:c.1709G>C	4.37:g.148575339C>G	ENSP00000314396:p.Gly570Ala		A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G570A	ENST00000322396.6	37	c.1709	CCDS3771.1	4	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.091326	0.00367	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.28454	1.61;1.61	6.08	-0.745	0.11098	.	0.708493	0.14108	N	0.340881	T	0.19485	0.0468	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36089	-0.9762	10	0.07990	T	0.79	-3.5335	8.4396	0.32808	0.0:0.3415:0.4226:0.2359	.	570	Q6P2P2	ANM10_HUMAN	A	570;457	ENSP00000314396:G570A;ENSP00000439508:G457A	ENSP00000314396:G570A	G	-	2	0	PRMT10	148794789	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.852000	0.04308	0.060000	0.16281	0.655000	0.94253	GGA	PRMT10	-	NULL	ENSG00000164169		0.438	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	-	0.00	78	0	C			148575339	-1	tier1	-	no_errors	ENST00000322396	ensembl	human	known	74_37	missense	17.07	68	14	SNP	0.000	G
PRMT9	90826	genome.wustl.edu	37	4	148575339	148575339	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:148575339C>G	ENST00000322396.6	-	9	1951	c.1709G>C	c.(1708-1710)gGa>gCa	p.G570A	PRMT10_ENST00000541232.1_Missense_Mutation_p.G457A|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		570	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATTACTCTGTCCAGTTCCAGA	0.438																																																	0													142.0	131.0	135.0					4																	148575339		2203	4300	6503	SO:0001583	missense	0																														ENST00000322396.6:c.1709G>C	4.37:g.148575339C>G	ENSP00000314396:p.Gly570Ala		A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G570A	ENST00000322396.6	37	c.1709	CCDS3771.1	4	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.091326	0.00367	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.28454	1.61;1.61	6.08	-0.745	0.11098	.	0.708493	0.14108	N	0.340881	T	0.19485	0.0468	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36089	-0.9762	10	0.07990	T	0.79	-3.5335	8.4396	0.32808	0.0:0.3415:0.4226:0.2359	.	570	Q6P2P2	ANM10_HUMAN	A	570;457	ENSP00000314396:G570A;ENSP00000439508:G457A	ENSP00000314396:G570A	G	-	2	0	PRMT10	148794789	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.852000	0.04308	0.060000	0.16281	0.655000	0.94253	GGA	PRMT10	-	NULL	ENSG00000164169		0.438	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	-	0.00	83	0	C			148575339	-1	tier1	-	no_errors	ENST00000322396	ensembl	human	known	74_37	missense	17.07	68	14	SNP	0.000	G
PRMT5	10419	genome.wustl.edu	37	14	23390008	23390008	+	3'UTR	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:23390008C>T	ENST00000324366.8	-	0	2242				PRMT5-AS1_ENST00000424245.2_RNA|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000346528.5_5'Flank|PRMT5_ENST00000397441.2_3'UTR|PRMT5-AS1_ENST00000457443.2_RNA|RBM23_ENST00000542016.2_5'Flank|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397440.4_3'UTR|PRMT5-AS1_ENST00000599580.2_RNA|RBM23_ENST00000359890.3_5'Flank|PRMT5-AS1_ENST00000609885.1_RNA|RBM23_ENST00000399922.2_5'Flank|PRMT5_ENST00000216350.8_3'UTR|RBM23_ENST00000555209.1_5'Flank|PRMT5-AS1_ENST00000595662.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ATGCTCCTCTCTGATGGGCAA	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.*105G>A	14.37:g.23390008C>T			A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	RNA	SNP	-	NULL	ENST00000324366.8	37	NULL	CCDS9579.1	14																																																																																			PRMT5-AS1	-	-	ENSG00000237054		0.502	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5-AS1	HGNC	protein_coding	OTTHUMT00000071674.3	-	0.00	52	0	C			23390008	+1	tier1	-	no_errors	ENST00000424245	ensembl	human	known	74_37	rna	28.12	23	9	SNP	0.486	T
PRMT5	10419	genome.wustl.edu	37	14	23390008	23390008	+	3'UTR	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:23390008C>T	ENST00000324366.8	-	0	2242				PRMT5-AS1_ENST00000424245.2_RNA|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000346528.5_5'Flank|PRMT5_ENST00000397441.2_3'UTR|PRMT5-AS1_ENST00000457443.2_RNA|RBM23_ENST00000542016.2_5'Flank|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397440.4_3'UTR|PRMT5-AS1_ENST00000599580.2_RNA|RBM23_ENST00000359890.3_5'Flank|PRMT5-AS1_ENST00000609885.1_RNA|RBM23_ENST00000399922.2_5'Flank|PRMT5_ENST00000216350.8_3'UTR|RBM23_ENST00000555209.1_5'Flank|PRMT5-AS1_ENST00000595662.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ATGCTCCTCTCTGATGGGCAA	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.*105G>A	14.37:g.23390008C>T			A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	RNA	SNP	-	NULL	ENST00000324366.8	37	NULL	CCDS9579.1	14																																																																																			PRMT5-AS1	-	-	ENSG00000237054		0.502	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5-AS1	HGNC	protein_coding	OTTHUMT00000071674.3	-	0.00	56	0	C			23390008	+1	tier1	-	no_errors	ENST00000424245	ensembl	human	known	74_37	rna	28.12	23	9	SNP	0.486	T
PRPF40B	25766	genome.wustl.edu	37	12	50030498	50030498	+	Splice_Site	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:50030498G>A	ENST00000380281.1	+	15	1424		c.e15-1		PRPF40B_ENST00000548825.2_Splice_Site|FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000261897.1_Splice_Site			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCTGTCTTTAGACATGGACAA	0.577											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													111.0	108.0	109.0					12																	50030498		2203	4300	6503	SO:0001630	splice_region_variant	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1361-1G>A	12.37:g.50030498G>A		966	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Splice_Site	SNP	-	e16-1	ENST00000380281.1	37	c.1427-1		12	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261042	0.80246	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6481	0.88154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF40B	48316765	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.388000	0.97237	2.786000	0.95864	0.655000	0.94253	.	PRPF40B	-	-	ENSG00000110844		0.577	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	-	0.00	121	0	G	NM_012272	Intron	50030498	+1	tier1	-	no_errors	ENST00000548825	ensembl	human	known	74_37	splice_site	5.56	85	5	SNP	1.000	A
PRPF40B	25766	genome.wustl.edu	37	12	50030498	50030498	+	Splice_Site	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:50030498G>A	ENST00000380281.1	+	15	1424		c.e15-1		PRPF40B_ENST00000548825.2_Splice_Site|FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000261897.1_Splice_Site			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCTGTCTTTAGACATGGACAA	0.577											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													111.0	108.0	109.0					12																	50030498		2203	4300	6503	SO:0001630	splice_region_variant	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1361-1G>A	12.37:g.50030498G>A		966	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Splice_Site	SNP	-	e16-1	ENST00000380281.1	37	c.1427-1		12	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261042	0.80246	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6481	0.88154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF40B	48316765	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.388000	0.97237	2.786000	0.95864	0.655000	0.94253	.	PRPF40B	-	-	ENSG00000110844		0.577	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	-	0.00	99	0	G	NM_012272	Intron	50030498	+1	tier1	-	no_errors	ENST00000548825	ensembl	human	known	74_37	splice_site	5.56	85	5	SNP	1.000	A
ZNF512B	57473	genome.wustl.edu	37	20	62660787	62660787	+	Intron	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:62660787G>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.S790I|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGGACCAAGAGCGTGGATGCC	0.562																																																	0													119.0	111.0	113.0					20																	62660787		2203	4300	6503	SO:0001627	intron_variant	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+19270C>A	20.37:g.62660787G>T			Q08AK9|Q9ULM4	Missense_Mutation	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.S830I	ENST00000450537.1	37	c.2489	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969511	0.92855	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.33865	1.39;1.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.945;0.999	T	0.65878	-0.6061	10	0.42905	T	0.14	-20.9321	19.2366	0.93862	0.0:0.0:1.0:0.0	.	790;830	O94906-2;O94906	.;PRP6_HUMAN	I	830;790	ENSP00000266079:S830I;ENSP00000446216:S790I	ENSP00000266079:S830I	S	+	2	0	PRPF6	62131231	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	9.692000	0.98682	2.626000	0.88956	0.655000	0.94253	AGC	PRPF6	-	NULL	ENSG00000101161		0.562	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	-	0.00	105	0	G	NM_020713		62660787	+1	tier1	-	no_errors	ENST00000266079	ensembl	human	known	74_37	missense	8.33	121	11	SNP	1.000	T
ZNF512B	57473	genome.wustl.edu	37	20	62660787	62660787	+	Intron	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:62660787G>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.S790I|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGGACCAAGAGCGTGGATGCC	0.562																																																	0													119.0	111.0	113.0					20																	62660787		2203	4300	6503	SO:0001627	intron_variant	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+19270C>A	20.37:g.62660787G>T			Q08AK9|Q9ULM4	Missense_Mutation	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.S830I	ENST00000450537.1	37	c.2489	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969511	0.92855	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.33865	1.39;1.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.945;0.999	T	0.65878	-0.6061	10	0.42905	T	0.14	-20.9321	19.2366	0.93862	0.0:0.0:1.0:0.0	.	790;830	O94906-2;O94906	.;PRP6_HUMAN	I	830;790	ENSP00000266079:S830I;ENSP00000446216:S790I	ENSP00000266079:S830I	S	+	2	0	PRPF6	62131231	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	9.692000	0.98682	2.626000	0.88956	0.655000	0.94253	AGC	PRPF6	-	NULL	ENSG00000101161		0.562	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	-	0.00	113	0	G	NM_020713		62660787	+1	tier1	-	no_errors	ENST00000266079	ensembl	human	known	74_37	missense	8.33	121	11	SNP	1.000	T
PRR16	51334	genome.wustl.edu	37	5	120021871	120021871	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:120021871A>C	ENST00000407149.2	+	2	591	c.382A>C	c.(382-384)Agg>Cgg	p.R128R	PRR16_ENST00000379551.2_Silent_p.R105R|PRR16_ENST00000505123.1_Silent_p.R58R|PRR16_ENST00000446965.1_Silent_p.R58R			Q569H4	LARGN_HUMAN	proline rich 16	128	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACCTCCTCCAAGGTTGACACC	0.522																																																	0													121.0	104.0	110.0					5																	120021871		2203	4300	6503	SO:0001819	synonymous_variant	0			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.382A>C	5.37:g.120021871A>C			D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	NULL	p.R128	ENST00000407149.2	37	c.382		5																																																																																			PRR16	-	NULL	ENSG00000184838		0.522	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1	-	0.00	54	0	A	NM_016644		120021871	+1	tier1	-	no_errors	ENST00000407149	ensembl	human	known	74_37	silent	37.74	33	20	SNP	0.152	C
PRR16	51334	genome.wustl.edu	37	5	120021871	120021871	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:120021871A>C	ENST00000407149.2	+	2	591	c.382A>C	c.(382-384)Agg>Cgg	p.R128R	PRR16_ENST00000379551.2_Silent_p.R105R|PRR16_ENST00000505123.1_Silent_p.R58R|PRR16_ENST00000446965.1_Silent_p.R58R			Q569H4	LARGN_HUMAN	proline rich 16	128	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACCTCCTCCAAGGTTGACACC	0.522																																																	0													121.0	104.0	110.0					5																	120021871		2203	4300	6503	SO:0001819	synonymous_variant	0			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.382A>C	5.37:g.120021871A>C			D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	NULL	p.R128	ENST00000407149.2	37	c.382		5																																																																																			PRR16	-	NULL	ENSG00000184838		0.522	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1	-	0.00	60	0	A	NM_016644		120021871	+1	tier1	-	no_errors	ENST00000407149	ensembl	human	known	74_37	silent	37.74	33	20	SNP	0.152	C
PRRG2	5639	genome.wustl.edu	37	19	50093249	50093249	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:50093249C>T	ENST00000246794.5	+	6	699	c.530C>T	c.(529-531)aCc>aTc	p.T177I	PRRG2_ENST00000596700.1_3'UTR|PRR12_ENST00000418929.2_5'Flank	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	177						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GGCCTCCCCACCTATGAGCAG	0.716																																																	0													2.0	2.0	2.0					19																	50093249		1476	3047	4523	SO:0001583	missense	0				CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"""			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.530C>T	19.37:g.50093249C>T	ENSP00000246794:p.Thr177Ile		Q6IBF8	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.T177I	ENST00000246794.5	37	c.530	CCDS12773.1	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482912	0.84747	.	.	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.97553	-4.43	4.75	4.75	0.60458	.	0.117120	0.52532	D	0.000078	D	0.97864	0.9298	M	0.65975	2.015	0.38873	D	0.956745	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.994	D	0.99418	1.0932	10	0.87932	D	0	-30.9692	13.575	0.61868	0.0:1.0:0.0:0.0	.	154;177	F5GZ13;O14669	.;TMG2_HUMAN	I	177;154	ENSP00000246794:T177I	ENSP00000246794:T177I	T	+	2	0	PRRG2	54785061	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	3.599000	0.54045	2.349000	0.79799	0.455000	0.32223	ACC	PRRG2	-	NULL	ENSG00000126460		0.716	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG2	HGNC	protein_coding	OTTHUMT00000465257.1	-	0.00	20	0	C	NM_000951		50093249	+1	tier1	-	no_errors	ENST00000246794	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	T
PSMA3	5684	genome.wustl.edu	37	14	58730477	58730477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:58730477G>T	ENST00000216455.4	+	7	622	c.532G>T	c.(532-534)Gag>Tag	p.E178*	RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|PSMA3_ENST00000557508.1_Nonsense_Mutation_p.E103*|CTD-2002H8.2_ENST00000557322.1_RNA|PSMA3_ENST00000412908.2_Nonsense_Mutation_p.E171*	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	178					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.E178Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GACGGAAATAGAGAAGCTTCA	0.368																																																	1	Substitution - Missense(1)	NS(1)											86.0	95.0	92.0					14																	58730477		2203	4300	6503	SO:0001587	stop_gained	0				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.532G>T	14.37:g.58730477G>T	ENSP00000216455:p.Glu178*		B2RCK6|Q86U83|Q8N1D8|Q9BS70	Nonsense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.E178*	ENST00000216455.4	37	c.532	CCDS9731.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.575649	0.97676	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.3787	18.7658	0.91871	0.0:0.0:1.0:0.0	.	.	.	.	X	178;171;103	.	ENSP00000216455:E178X	E	+	1	0	PSMA3	57800230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.931000	0.92884	2.503000	0.84419	0.557000	0.71058	GAG	PSMA3	-	pfam_Proteasome_sua/b	ENSG00000100567		0.368	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1		0.00	36	0	G	NM_002788		58730477	+1			no_errors	ENST00000216455	ensembl	human	known	74_37	nonsense	10.00	18	2	SNP	1.000	T
PSMA7	5688	genome.wustl.edu	37	20	60711998	60711998	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:60711998T>C	ENST00000370873.4	-	7	788	c.662A>G	c.(661-663)aAt>aGt	p.N221S	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_Missense_Mutation_p.N151S	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	221					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TTCTTCAGGATTTAAAATCTA	0.393											OREG0026105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90.0	90.0	90.0					20																	60711998		2203	4300	6503	SO:0001583	missense	0			AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"""Proteasome (prosome, macropain) subunits"""	9536	protein-coding gene	gene with protein product	"""proteasome subunit XAPC7"", ""proteasome subunit RC6-1"""	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.662A>G	20.37:g.60711998T>C	ENSP00000359910:p.Asn221Ser	1048	B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.N221S	ENST00000370873.4	37	c.662	CCDS13489.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	2.972|2.972	-0.212276|-0.212276	0.06140|0.06140	.|.	.|.	ENSG00000101182|ENSG00000101182	ENST00000442551|ENST00000370873;ENST00000370861	.|T;T	.|0.39406	.|1.08;1.08	5.43|5.43	1.89|1.89	0.25635|0.25635	.|.	.|0.297967	.|0.41294	.|N	.|0.000909	T|T	0.15219|0.15219	0.0367|0.0367	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.29305|0.29305	-1.0016|-1.0016	5|10	.|0.02654	.|T	.|1	.|.	9.2126|9.2126	0.37328|0.37328	0.0:0.2937:0.0:0.7063|0.0:0.2937:0.0:0.7063	.|.	.|221	.|O14818	.|PSA7_HUMAN	V|S	160|221;151	.|ENSP00000359910:N221S;ENSP00000359898:N151S	.|ENSP00000359898:N151S	I|N	-|-	1|2	0|0	PSMA7|PSMA7	60145393|60145393	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	1.329000|1.329000	0.33770|0.33770	0.052000|0.052000	0.16007|0.16007	0.529000|0.529000	0.55759|0.55759	ATC|AAT	PSMA7	-	NULL	ENSG00000101182		0.393	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA7	HGNC	protein_coding	OTTHUMT00000079975.1	-	0.00	95	0	T	NM_002792		60711998	-1	tier1	-	no_errors	ENST00000370873	ensembl	human	known	74_37	missense	52.00	60	65	SNP	1.000	C
PSTPIP1	9051	genome.wustl.edu	37	15	77310810	77310810	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:77310810G>T	ENST00000558012.1	+	3	639	c.150G>T	c.(148-150)gaG>gaT	p.E50D	PSTPIP1_ENST00000559295.1_Missense_Mutation_p.E50D|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.E49D|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.E50D	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	50	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCCAGGCGGAGGAGCGGTACG	0.577																																																	0													29.0	35.0	33.0					15																	77310810		1987	4137	6124	SO:0001583	missense	0			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.150G>T	15.37:g.77310810G>T	ENSP00000452746:p.Glu50Asp		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.E115D	ENST00000558012.1	37	c.345	CCDS45312.1	15	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297041	0.40594	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.58797	0.31;0.31	3.81	1.9	0.25705	Fps/Fes/Fer/CIP4 homology (3);Prismane-like (1);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.87827	2.91	0.46416	D	0.999033	B;P;P;P	0.45827	0.159;0.832;0.543;0.867	B;P;B;P	0.55615	0.185;0.546;0.193;0.78	T	0.71189	-0.4666	10	0.72032	D	0.01	-19.4021	6.7258	0.23355	0.3164:0.0:0.6836:0.0	.	50;49;50;50	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	D	50;49	ENSP00000368914:E50D;ENSP00000267939:E49D	ENSP00000267939:E49D	E	+	3	2	PSTPIP1	75097865	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	1.510000	0.35790	0.952000	0.37798	0.591000	0.81541	GAG	PSTPIP1	-	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	ENSG00000140368		0.577	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	-	0.00	36	0	G	NM_003978		77310810	+1	tier1	-	no_errors	ENST00000559785	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
PSTPIP1	9051	genome.wustl.edu	37	15	77310810	77310810	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:77310810G>T	ENST00000558012.1	+	3	639	c.150G>T	c.(148-150)gaG>gaT	p.E50D	PSTPIP1_ENST00000559295.1_Missense_Mutation_p.E50D|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.E49D|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.E50D	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	50	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCCAGGCGGAGGAGCGGTACG	0.577																																																	0													29.0	35.0	33.0					15																	77310810		1987	4137	6124	SO:0001583	missense	0			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.150G>T	15.37:g.77310810G>T	ENSP00000452746:p.Glu50Asp		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.E115D	ENST00000558012.1	37	c.345	CCDS45312.1	15	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297041	0.40594	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.58797	0.31;0.31	3.81	1.9	0.25705	Fps/Fes/Fer/CIP4 homology (3);Prismane-like (1);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.87827	2.91	0.46416	D	0.999033	B;P;P;P	0.45827	0.159;0.832;0.543;0.867	B;P;B;P	0.55615	0.185;0.546;0.193;0.78	T	0.71189	-0.4666	10	0.72032	D	0.01	-19.4021	6.7258	0.23355	0.3164:0.0:0.6836:0.0	.	50;49;50;50	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	D	50;49	ENSP00000368914:E50D;ENSP00000267939:E49D	ENSP00000267939:E49D	E	+	3	2	PSTPIP1	75097865	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	1.510000	0.35790	0.952000	0.37798	0.591000	0.81541	GAG	PSTPIP1	-	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	ENSG00000140368		0.577	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	-	0.00	45	0	G	NM_003978		77310810	+1	tier1	-	no_errors	ENST00000559785	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
PTENP1	11191	genome.wustl.edu	37	9	33676558	33676558	+	RNA	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:33676558T>C	ENST00000532280.1	-	0	939					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		AGCAATAATGTTTAGATAAAT	0.373																																																	0																																												0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676558T>C				RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.373	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	-	0.00	111	0	T	NR_023917		33676558	-1	tier1	-	no_errors	ENST00000532280	ensembl	human	known	74_37	rna	10.13	71	8	SNP	1.000	C
MED25	81857	genome.wustl.edu	37	19	50342059	50342059	+	IGR	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:50342059A>G	ENST00000312865.6	+	0	2332				PTOV1-AS1_ENST00000596521.1_RNA|PTOV1-AS1_ENST00000600742.1_RNA	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25						cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		aacgaactgaaaaagggactc	0.448																																					GBM(51;894 1657 37868)												0																																										SO:0001628	intergenic_variant	0			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5			19.37:g.50342059A>G			A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	RNA	SNP	-	NULL	ENST00000312865.6	37	NULL	CCDS33075.1	19																																																																																			PTOV1-AS1	-	-	ENSG00000268006		0.448	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTOV1-AS1	HGNC	protein_coding	OTTHUMT00000465316.1	-	0.00	38	0	A	NM_030973		50342059	-1	tier1	-	no_errors	ENST00000596521	ensembl	human	known	74_37	rna	10.00	45	5	SNP	0.960	G
MED25	81857	genome.wustl.edu	37	19	50342059	50342059	+	IGR	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:50342059A>G	ENST00000312865.6	+	0	2332				PTOV1-AS1_ENST00000596521.1_RNA|PTOV1-AS1_ENST00000600742.1_RNA	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25						cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		aacgaactgaaaaagggactc	0.448																																					GBM(51;894 1657 37868)												0																																										SO:0001628	intergenic_variant	0			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5			19.37:g.50342059A>G			A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	RNA	SNP	-	NULL	ENST00000312865.6	37	NULL	CCDS33075.1	19																																																																																			PTOV1-AS1	-	-	ENSG00000268006		0.448	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTOV1-AS1	HGNC	protein_coding	OTTHUMT00000465316.1	-	0.00	48	0	A	NM_030973		50342059	-1	tier1	-	no_errors	ENST00000596521	ensembl	human	known	74_37	rna	10.00	45	5	SNP	0.960	G
PTPN21	11099	genome.wustl.edu	37	14	88946419	88946419	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:88946419C>G	ENST00000556564.1	-	13	1640	c.1356G>C	c.(1354-1356)gaG>gaC	p.E452D	PTPN21_ENST00000328736.3_Missense_Mutation_p.E452D	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	452					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATCACAGTCTCATAGTCTG	0.627																																																	0													52.0	43.0	46.0					14																	88946419		2203	4300	6503	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1356G>C	14.37:g.88946419C>G	ENSP00000452414:p.Glu452Asp			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.E452D	ENST00000556564.1	37	c.1356	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895276	0.52121	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.78126	-1.15;-1.15	5.5	3.34	0.38264	.	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	M	0.69823	2.125	0.36093	D	0.843591	D	0.71674	0.998	D	0.75484	0.986	D	0.87229	0.2259	10	0.59425	D	0.04	.	8.9746	0.35928	0.0:0.6801:0.1799:0.14	.	452	Q16825	PTN21_HUMAN	D	452	ENSP00000330276:E452D;ENSP00000452414:E452D	ENSP00000330276:E452D	E	-	3	2	PTPN21	88016172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.146000	0.31589	1.218000	0.43458	0.561000	0.74099	GAG	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.627	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0.00	64	0	C			88946419	-1	tier1	-	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	G
PTPN21	11099	genome.wustl.edu	37	14	88946419	88946419	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:88946419C>G	ENST00000556564.1	-	13	1640	c.1356G>C	c.(1354-1356)gaG>gaC	p.E452D	PTPN21_ENST00000328736.3_Missense_Mutation_p.E452D	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	452					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATCACAGTCTCATAGTCTG	0.627																																																	0													52.0	43.0	46.0					14																	88946419		2203	4300	6503	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1356G>C	14.37:g.88946419C>G	ENSP00000452414:p.Glu452Asp			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.E452D	ENST00000556564.1	37	c.1356	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895276	0.52121	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.78126	-1.15;-1.15	5.5	3.34	0.38264	.	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	M	0.69823	2.125	0.36093	D	0.843591	D	0.71674	0.998	D	0.75484	0.986	D	0.87229	0.2259	10	0.59425	D	0.04	.	8.9746	0.35928	0.0:0.6801:0.1799:0.14	.	452	Q16825	PTN21_HUMAN	D	452	ENSP00000330276:E452D;ENSP00000452414:E452D	ENSP00000330276:E452D	E	-	3	2	PTPN21	88016172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.146000	0.31589	1.218000	0.43458	0.561000	0.74099	GAG	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.627	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0.00	74	0	C			88946419	-1	tier1	-	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	G
PTPN23	25930	genome.wustl.edu	37	3	47452795	47452795	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:47452795G>C	ENST00000265562.4	+	20	3584	c.3507G>C	c.(3505-3507)gaG>gaC	p.E1169D	PTPN23_ENST00000431726.1_Missense_Mutation_p.E1043D	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1169					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCATCCTGAGAGGCTGCGGC	0.667																																																	0													26.0	28.0	27.0					3																	47452795		2201	4298	6499	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3507G>C	3.37:g.47452795G>C	ENSP00000265562:p.Glu1169Asp		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E1169D	ENST00000265562.4	37	c.3507	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381435	0.42207	.	.	ENSG00000076201	ENST00000265562	T	0.13901	2.55	4.78	2.87	0.33458	.	0.130931	0.48286	D	0.000183	T	0.07999	0.0200	N	0.24115	0.695	0.41301	D	0.987048	B;B	0.15141	0.012;0.012	B;B	0.12156	0.004;0.007	T	0.17258	-1.0375	10	0.48119	T	0.1	-22.5533	4.6088	0.12391	0.0839:0.1535:0.6037:0.1589	.	1043;1169	B4DST5;Q9H3S7	.;PTN23_HUMAN	D	1169	ENSP00000265562:E1169D	ENSP00000265562:E1169D	E	+	3	2	PTPN23	47427799	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.756000	0.47549	1.213000	0.43380	0.563000	0.77884	GAG	PTPN23	-	NULL	ENSG00000076201		0.667	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	-	0.00	18	0	G	NM_015466		47452795	+1	tier1	-	no_errors	ENST00000265562	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	C
PTPN23	25930	genome.wustl.edu	37	3	47452795	47452795	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:47452795G>C	ENST00000265562.4	+	20	3584	c.3507G>C	c.(3505-3507)gaG>gaC	p.E1169D	PTPN23_ENST00000431726.1_Missense_Mutation_p.E1043D	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1169					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCATCCTGAGAGGCTGCGGC	0.667																																																	0													26.0	28.0	27.0					3																	47452795		2201	4298	6499	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3507G>C	3.37:g.47452795G>C	ENSP00000265562:p.Glu1169Asp		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E1169D	ENST00000265562.4	37	c.3507	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381435	0.42207	.	.	ENSG00000076201	ENST00000265562	T	0.13901	2.55	4.78	2.87	0.33458	.	0.130931	0.48286	D	0.000183	T	0.07999	0.0200	N	0.24115	0.695	0.41301	D	0.987048	B;B	0.15141	0.012;0.012	B;B	0.12156	0.004;0.007	T	0.17258	-1.0375	10	0.48119	T	0.1	-22.5533	4.6088	0.12391	0.0839:0.1535:0.6037:0.1589	.	1043;1169	B4DST5;Q9H3S7	.;PTN23_HUMAN	D	1169	ENSP00000265562:E1169D	ENSP00000265562:E1169D	E	+	3	2	PTPN23	47427799	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.756000	0.47549	1.213000	0.43380	0.563000	0.77884	GAG	PTPN23	-	NULL	ENSG00000076201		0.667	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	-	0.00	20	0	G	NM_015466		47452795	+1	tier1	-	no_errors	ENST00000265562	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	C
PTPRD	5789	genome.wustl.edu	37	9	8492870	8492870	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:8492870G>A	ENST00000381196.4	-	24	3002	c.2459C>T	c.(2458-2460)aCt>aTt	p.T820I	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.T798I|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.T820I|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.T820I|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.T807I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	820	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACCTGCCCCAGTGGTGGACAC	0.458										TSP Lung(15;0.13)																																							0													224.0	177.0	193.0					9																	8492870		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2459C>T	9.37:g.8492870G>A	ENSP00000370593:p.Thr820Ile		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	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,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.T820I	ENST00000381196.4	37	c.2459	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591425	0.46214	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.53423	0.62;0.62;0.62;2.29;0.62	5.41	4.52	0.55395	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.108249	0.64402	D	0.000006	T	0.37598	0.1009	L	0.45698	1.435	0.48632	D	0.999687	P;B;B	0.41643	0.758;0.09;0.059	B;B;B	0.37601	0.254;0.047;0.028	T	0.14896	-1.0456	9	.	.	.	.	9.5573	0.39346	0.0751:0.1425:0.7824:0.0	.	807;820;820	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	I	820;820;807;798;820	ENSP00000370593:T820I;ENSP00000348812:T820I;ENSP00000353187:T807I;ENSP00000351293:T798I;ENSP00000438164:T820I	.	T	-	2	0	PTPRD	8482870	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	3.692000	0.54727	1.273000	0.44346	0.585000	0.79938	ACT	PTPRD	-	superfamily_Fibronectin_type3	ENSG00000153707		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0.00	71	0	G			8492870	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A
PTPRD	5789	genome.wustl.edu	37	9	8492870	8492870	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:8492870G>A	ENST00000381196.4	-	24	3002	c.2459C>T	c.(2458-2460)aCt>aTt	p.T820I	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.T798I|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.T820I|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.T820I|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.T807I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	820	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACCTGCCCCAGTGGTGGACAC	0.458										TSP Lung(15;0.13)																																							0													224.0	177.0	193.0					9																	8492870		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2459C>T	9.37:g.8492870G>A	ENSP00000370593:p.Thr820Ile		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	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,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.T820I	ENST00000381196.4	37	c.2459	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591425	0.46214	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.53423	0.62;0.62;0.62;2.29;0.62	5.41	4.52	0.55395	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.108249	0.64402	D	0.000006	T	0.37598	0.1009	L	0.45698	1.435	0.48632	D	0.999687	P;B;B	0.41643	0.758;0.09;0.059	B;B;B	0.37601	0.254;0.047;0.028	T	0.14896	-1.0456	9	.	.	.	.	9.5573	0.39346	0.0751:0.1425:0.7824:0.0	.	807;820;820	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	I	820;820;807;798;820	ENSP00000370593:T820I;ENSP00000348812:T820I;ENSP00000353187:T807I;ENSP00000351293:T798I;ENSP00000438164:T820I	.	T	-	2	0	PTPRD	8482870	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	3.692000	0.54727	1.273000	0.44346	0.585000	0.79938	ACT	PTPRD	-	superfamily_Fibronectin_type3	ENSG00000153707		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0.00	72	0	G			8492870	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A
PTPRD	5789	genome.wustl.edu	37	9	8518303	8518303	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:8518303G>C	ENST00000381196.4	-	18	1631	c.1088C>G	c.(1087-1089)tCt>tGt	p.S363C	PTPRD_ENST00000397606.3_Missense_Mutation_p.S353C|PTPRD_ENST00000355233.5_Missense_Mutation_p.S363C|PTPRD_ENST00000358503.5_Missense_Mutation_p.S350C|PTPRD_ENST00000486161.1_Missense_Mutation_p.S363C|PTPRD_ENST00000356435.5_Missense_Mutation_p.S363C|PTPRD_ENST00000397611.3_Missense_Mutation_p.S360C|PTPRD_ENST00000540109.1_Missense_Mutation_p.S363C|PTPRD_ENST00000397617.3_Missense_Mutation_p.S353C|PTPRD_ENST00000537002.1_Missense_Mutation_p.S360C|PTPRD_ENST00000360074.4_Missense_Mutation_p.S350C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	363	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTCCTCAGAGTTTTTAGG	0.468										TSP Lung(15;0.13)																																							0													115.0	124.0	121.0					9																	8518303		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1088C>G	9.37:g.8518303G>C	ENSP00000370593:p.Ser363Cys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	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,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.S363C	ENST00000381196.4	37	c.1088	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810064	0.50421	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81273	0.4788	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.967;0.967;0.984;0.984;0.967;0.989;0.999;1.0;0.996	P;D;D;D;P;P;D;D;D	0.91635	0.886;0.926;0.926;0.926;0.77;0.818;0.962;0.999;0.926	D	0.84875	0.0827	9	.	.	.	.	18.7094	0.91651	0.0:0.0:1.0:0.0	.	353;357;363;363;360;360;350;363;363	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	363;363;350;350;363;353;360;360;363;363;363;353	ENSP00000370593:S363C;ENSP00000348812:S363C;ENSP00000353187:S350C;ENSP00000351293:S350C;ENSP00000347373:S363C;ENSP00000380741:S353C;ENSP00000380735:S360C;ENSP00000440515:S360C;ENSP00000438164:S363C;ENSP00000417093:S363C;ENSP00000380731:S353C	.	S	-	2	0	PTPRD	8508303	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	7.578000	0.82498	2.417000	0.82017	0.460000	0.39030	TCT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0.00	32	0	G			8518303	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	46.67	8	7	SNP	1.000	C
PTPRD	5789	genome.wustl.edu	37	9	8518303	8518303	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:8518303G>C	ENST00000381196.4	-	18	1631	c.1088C>G	c.(1087-1089)tCt>tGt	p.S363C	PTPRD_ENST00000397606.3_Missense_Mutation_p.S353C|PTPRD_ENST00000355233.5_Missense_Mutation_p.S363C|PTPRD_ENST00000358503.5_Missense_Mutation_p.S350C|PTPRD_ENST00000486161.1_Missense_Mutation_p.S363C|PTPRD_ENST00000356435.5_Missense_Mutation_p.S363C|PTPRD_ENST00000397611.3_Missense_Mutation_p.S360C|PTPRD_ENST00000540109.1_Missense_Mutation_p.S363C|PTPRD_ENST00000397617.3_Missense_Mutation_p.S353C|PTPRD_ENST00000537002.1_Missense_Mutation_p.S360C|PTPRD_ENST00000360074.4_Missense_Mutation_p.S350C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	363	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTCCTCAGAGTTTTTAGG	0.468										TSP Lung(15;0.13)																																							0													115.0	124.0	121.0					9																	8518303		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1088C>G	9.37:g.8518303G>C	ENSP00000370593:p.Ser363Cys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	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,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.S363C	ENST00000381196.4	37	c.1088	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810064	0.50421	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81273	0.4788	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.967;0.967;0.984;0.984;0.967;0.989;0.999;1.0;0.996	P;D;D;D;P;P;D;D;D	0.91635	0.886;0.926;0.926;0.926;0.77;0.818;0.962;0.999;0.926	D	0.84875	0.0827	9	.	.	.	.	18.7094	0.91651	0.0:0.0:1.0:0.0	.	353;357;363;363;360;360;350;363;363	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	363;363;350;350;363;353;360;360;363;363;363;353	ENSP00000370593:S363C;ENSP00000348812:S363C;ENSP00000353187:S350C;ENSP00000351293:S350C;ENSP00000347373:S363C;ENSP00000380741:S353C;ENSP00000380735:S360C;ENSP00000440515:S360C;ENSP00000438164:S363C;ENSP00000417093:S363C;ENSP00000380731:S353C	.	S	-	2	0	PTPRD	8508303	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	7.578000	0.82498	2.417000	0.82017	0.460000	0.39030	TCT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0.00	35	0	G			8518303	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	46.67	8	7	SNP	1.000	C
PTPRJ	5795	genome.wustl.edu	37	11	48134407	48134407	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:48134407G>T	ENST00000418331.2	+	3	576	c.224G>T	c.(223-225)gGa>gTa	p.G75V	PTPRJ_ENST00000440289.2_Missense_Mutation_p.G75V|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	75					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AATGGAACTGGAACACCTCAG	0.468																																																	0													112.0	106.0	108.0					11																	48134407		2201	4298	6499	SO:0001583	missense	0			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.224G>T	11.37:g.48134407G>T	ENSP00000400010:p.Gly75Val		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G75V	ENST00000418331.2	37	c.224	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	G	7.230	0.599109	0.13939	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000527952	T;T	0.44881	2.39;0.91	1.98	-0.0539	0.13816	.	.	.	.	.	T	0.25865	0.0630	N	0.08118	0	0.09310	N	1	P;D	0.62365	0.767;0.991	B;P	0.49387	0.176;0.609	T	0.12016	-1.0564	9	0.59425	D	0.04	.	4.3179	0.11002	0.3834:0.0:0.6166:0.0	.	75;75	Q12913;Q6P4H4	PTPRJ_HUMAN;.	V	75	ENSP00000400010:G75V;ENSP00000409733:G75V	ENSP00000278456:G75V	G	+	2	0	PTPRJ	48090983	0.004000	0.15560	0.000000	0.03702	0.038000	0.13279	0.539000	0.23175	-0.020000	0.14032	0.205000	0.17691	GGA	PTPRJ	-	NULL	ENSG00000149177		0.468	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	-	0.00	85	0	G			48134407	+1	tier1	-	no_errors	ENST00000418331	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	T
PTPRR	5801	genome.wustl.edu	37	12	71286609	71286609	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:71286609A>G	ENST00000283228.2	-	2	659	c.207T>C	c.(205-207)tcT>tcC	p.S69S		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	69					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAGCTTCGGAAGAGGAATGGT	0.458																																																	0													232.0	235.0	234.0					12																	71286609		2203	4300	6503	SO:0001819	synonymous_variant	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.207T>C	12.37:g.71286609A>G			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S69	ENST00000283228.2	37	c.207	CCDS8998.1	12																																																																																			PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5	ENSG00000153233		0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	-	0.00	68	0	A	NM_002849		71286609	-1	tier1	-	no_errors	ENST00000283228	ensembl	human	known	74_37	silent	7.59	73	6	SNP	0.142	G
PTPRR	5801	genome.wustl.edu	37	12	71286609	71286609	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:71286609A>G	ENST00000283228.2	-	2	659	c.207T>C	c.(205-207)tcT>tcC	p.S69S		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	69					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAGCTTCGGAAGAGGAATGGT	0.458																																																	0													232.0	235.0	234.0					12																	71286609		2203	4300	6503	SO:0001819	synonymous_variant	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.207T>C	12.37:g.71286609A>G			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S69	ENST00000283228.2	37	c.207	CCDS8998.1	12																																																																																			PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5	ENSG00000153233		0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	-	0.00	82	0	A	NM_002849		71286609	-1	tier1	-	no_errors	ENST00000283228	ensembl	human	known	74_37	silent	7.59	73	6	SNP	0.142	G
STXBP1	6812	genome.wustl.edu	37	9	130457377	130457377	+	IGR	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:130457377A>G	ENST00000373299.1	+	0	3759				STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1						axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						gatgatggtgatgatgatgat	0.473																																																	0																																										SO:0001628	intergenic_variant	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713		9.37:g.130457377A>G			B1AM97|Q28208|Q62759|Q64320|Q96TG8	RNA	SNP	-	NULL	ENST00000373299.1	37	NULL	CCDS35146.1	9																																																																																			PTRH1	-	-	ENSG00000187024		0.473	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRH1	HGNC	protein_coding	OTTHUMT00000054229.1	-	0.00	17	0	A	NM_003165		130457377	-1	tier1	-	no_errors	ENST00000335223	ensembl	human	known	74_37	rna	26.92	19	7	SNP	0.020	G
PWP2	5822	genome.wustl.edu	37	21	45539308	45539308	+	Silent	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:45539308C>G	ENST00000291576.7	+	10	1219	c.1092C>G	c.(1090-1092)tcC>tcG	p.S364S		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	364					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		AGAGTGAGTCCTACGTGCTCA	0.667																																																	0													45.0	32.0	36.0					21																	45539308		2191	4297	6488	SO:0001819	synonymous_variant	0				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1092C>G	21.37:g.45539308C>G			B2RAG8|Q96A77	Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S364	ENST00000291576.7	37	c.1092	CCDS33579.1	21																																																																																			PWP2	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000241945		0.667	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	-	0.00	95	0	C	NM_005049		45539308	+1	tier1	-	no_errors	ENST00000291576	ensembl	human	known	74_37	silent	30.30	46	20	SNP	1.000	G
RAB5A	5868	genome.wustl.edu	37	3	20019889	20019889	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:20019889G>A	ENST00000273047.4	+	5	1062	c.526G>A	c.(526-528)Gca>Aca	p.A176T	RAB5A_ENST00000422242.1_Missense_Mutation_p.A162T	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	176					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)|urinary_tract(1)	2						AATATTCATGGCAATAGGTAA	0.303																																																	0													96.0	103.0	101.0					3																	20019889		2203	4294	6497	SO:0001583	missense	0				CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"""RAB, member RAS oncogene"""	9783	protein-coding gene	gene with protein product	"""RAS-associated protein RAB5A"""	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.526G>A	3.37:g.20019889G>A	ENSP00000273047:p.Ala176Thr		B4DJA5|Q6FI44	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A176T	ENST00000273047.4	37	c.526	CCDS2633.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.072222	0.93950	.	.	ENSG00000144566	ENST00000273047;ENST00000422242	T;T	0.80033	-1.33;-1.33	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	N	0.12961	0.28	0.80722	D	1	P;P	0.34412	0.453;0.453	B;B	0.40901	0.343;0.343	T	0.69075	-0.5241	9	.	.	.	-16.5841	19.6764	0.95936	0.0:0.0:1.0:0.0	.	162;176	B4DJA5;P20339	.;RAB5A_HUMAN	T	176;162	ENSP00000273047:A176T;ENSP00000411941:A162T	.	A	+	1	0	RAB5A	19994893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.757000	0.98924	2.660000	0.90430	0.655000	0.94253	GCA	RAB5A	-	pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000144566		0.303	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB5A	HGNC	protein_coding	OTTHUMT00000252137.2	-	0.00	47	0	G	NM_004162		20019889	+1	tier1	-	no_errors	ENST00000273047	ensembl	human	known	74_37	missense	33.33	34	17	SNP	1.000	A
RAB5A	5868	genome.wustl.edu	37	3	20019889	20019889	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:20019889G>A	ENST00000273047.4	+	5	1062	c.526G>A	c.(526-528)Gca>Aca	p.A176T	RAB5A_ENST00000422242.1_Missense_Mutation_p.A162T	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	176					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)|urinary_tract(1)	2						AATATTCATGGCAATAGGTAA	0.303																																																	0													96.0	103.0	101.0					3																	20019889		2203	4294	6497	SO:0001583	missense	0				CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"""RAB, member RAS oncogene"""	9783	protein-coding gene	gene with protein product	"""RAS-associated protein RAB5A"""	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.526G>A	3.37:g.20019889G>A	ENSP00000273047:p.Ala176Thr		B4DJA5|Q6FI44	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A176T	ENST00000273047.4	37	c.526	CCDS2633.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.072222	0.93950	.	.	ENSG00000144566	ENST00000273047;ENST00000422242	T;T	0.80033	-1.33;-1.33	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	N	0.12961	0.28	0.80722	D	1	P;P	0.34412	0.453;0.453	B;B	0.40901	0.343;0.343	T	0.69075	-0.5241	9	.	.	.	-16.5841	19.6764	0.95936	0.0:0.0:1.0:0.0	.	162;176	B4DJA5;P20339	.;RAB5A_HUMAN	T	176;162	ENSP00000273047:A176T;ENSP00000411941:A162T	.	A	+	1	0	RAB5A	19994893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.757000	0.98924	2.660000	0.90430	0.655000	0.94253	GCA	RAB5A	-	pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000144566		0.303	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB5A	HGNC	protein_coding	OTTHUMT00000252137.2	-	0.00	84	0	G	NM_004162		20019889	+1	tier1	-	no_errors	ENST00000273047	ensembl	human	known	74_37	missense	33.33	34	17	SNP	1.000	A
RAD17	5884	genome.wustl.edu	37	5	68677884	68677884	+	Splice_Site	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:68677884G>A	ENST00000509734.1	+	6	1219	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	RAD17_ENST00000345306.6_Splice_Site_p.E170K|RAD17_ENST00000361732.2_Splice_Site_p.E170K|RAD17_ENST00000354868.5_Splice_Site_p.E170K|RAD17_ENST00000354312.3_Splice_Site_p.E170K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000282891.6_Splice_Site_p.E84K|RAD17_ENST00000358030.2_Splice_Site_p.E5K|RAD17_ENST00000380774.3_Splice_Site_p.E181K|RAD17_ENST00000305138.4_Splice_Site_p.E170K|RAD17_ENST00000521422.1_Splice_Site_p.E5K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	181					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GTTTAATACTGGTAAGATTTG	0.368								Other conserved DNA damage response genes																																									0													64.0	64.0	64.0					5																	68677884		2203	4299	6502	SO:0001630	splice_region_variant	0			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.541+1G>A	5.37:g.68677884G>A			A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met	p.E181K	ENST00000509734.1	37	c.541	CCDS4003.1	5	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861130	0.71949	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000512785;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	T;T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.0	5.0	0.66597	ATPase, AAA+ type, core (1);	0.150464	0.56097	D	0.000029	T	0.42988	0.1227	M	0.74881	2.28	0.54753	D	0.999985	D;P;D	0.55172	0.97;0.851;0.962	P;B;B	0.51615	0.675;0.441;0.441	T	0.37934	-0.9684	9	.	.	.	-14.8097	17.4369	0.87555	0.0:0.0:1.0:0.0	.	181;84;170	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	170;181;170;5;170;170;5;170;84;5;181	ENSP00000355226:E170K;ENSP00000426191:E181K;ENSP00000346938:E170K;ENSP00000427743:E5K;ENSP00000346271:E170K;ENSP00000311227:E170K;ENSP00000427673:E5K;ENSP00000303134:E170K;ENSP00000282891:E84K;ENSP00000350725:E5K;ENSP00000370151:E181K	.	E	+	1	0	RAD17	68713640	1.000000	0.71417	0.980000	0.43619	0.156000	0.22039	4.425000	0.59875	2.479000	0.83701	0.650000	0.86243	GAA	RAD17	-	superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met	ENSG00000152942		0.368	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RAD17	HGNC	protein_coding	OTTHUMT00000369171.1		0.00	76	0	G	NM_133344	Missense_Mutation	68677884	+1			no_errors	ENST00000380774	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A
RAD54L2	23132	genome.wustl.edu	37	3	51624572	51624573	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:51624572_51624573GA>AT	ENST00000409535.2	+	2	261_262	c.136_137GA>AT	c.(136-138)GAt>ATt	p.D46I		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	46						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGACCTGCTGGATGGTAAGTGG	0.53																																																	0																																										SO:0001583	missense	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	Exception_encountered	3.37:g.51624572_51624573delinsAT	ENSP00000386520:p.Asp46Ile		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D46N|p.D46V	ENST00000409535.2	37	c.136|c.137	CCDS33765.2	3																																																																																			RAD54L2	-	NULL	ENSG00000164080		0.530	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	-	0.00	103|101	0	G|A	NM_015106		51624572|51624573	+1	tier1	-	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	A|T
RAD54L2	23132	genome.wustl.edu	37	3	51624572	51624573	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:51624572_51624573GA>AT	ENST00000409535.2	+	2	261_262	c.136_137GA>AT	c.(136-138)GAt>ATt	p.D46I		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	46						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGACCTGCTGGATGGTAAGTGG	0.53																																																	0																																										SO:0001583	missense	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	Exception_encountered	3.37:g.51624572_51624573delinsAT	ENSP00000386520:p.Asp46Ile		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D46N|p.D46V	ENST00000409535.2	37	c.136|c.137	CCDS33765.2	3																																																																																			RAD54L2	-	NULL	ENSG00000164080		0.530	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	-	0.00	103|91	0	G|A	NM_015106		51624572|51624573	+1	tier1	-	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	A|T
RAD54L2	23132	genome.wustl.edu	37	3	51624572	51624573	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:51624572_51624573GA>AT	ENST00000409535.2	+	2	261_262	c.136_137GA>AT	c.(136-138)GAt>ATt	p.D46I		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	46						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGACCTGCTGGATGGTAAGTGG	0.53																																																	0																																										SO:0001583	missense	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	Exception_encountered	3.37:g.51624572_51624573delinsAT	ENSP00000386520:p.Asp46Ile		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D46N|p.D46V	ENST00000409535.2	37	c.136|c.137	CCDS33765.2	3																																																																																			RAD54L2	-	NULL	ENSG00000164080		0.530	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	-	0.00	90|101	0	G|A	NM_015106		51624572|51624573	+1	tier1	-	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	A|T
RAD54L2	23132	genome.wustl.edu	37	3	51624572	51624573	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:51624572_51624573GA>AT	ENST00000409535.2	+	2	261_262	c.136_137GA>AT	c.(136-138)GAt>ATt	p.D46I		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	46						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGACCTGCTGGATGGTAAGTGG	0.53																																																	0																																										SO:0001583	missense	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	Exception_encountered	3.37:g.51624572_51624573delinsAT	ENSP00000386520:p.Asp46Ile		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D46N|p.D46V	ENST00000409535.2	37	c.136|c.137	CCDS33765.2	3																																																																																			RAD54L2	-	NULL	ENSG00000164080		0.530	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	-	0.00	90|91	0	G|A	NM_015106		51624572|51624573	+1	tier1	-	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	A|T
RANBP10	57610	genome.wustl.edu	37	16	67763629	67763629	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:67763629G>C	ENST00000317506.3	-	9	1216	c.1101C>G	c.(1099-1101)agC>agG	p.S367R	RANBP10_ENST00000602677.1_Missense_Mutation_p.S367R|RANBP10_ENST00000536251.1_Missense_Mutation_p.S138R|RANBP10_ENST00000448631.2_Missense_Mutation_p.S311R|RANBP10_ENST00000411657.2_Missense_Mutation_p.S250R	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	367	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGGACTGAGGCTGGGGGAGC	0.612																																																	0													68.0	70.0	69.0					16																	67763629		2198	4300	6498	SO:0001583	missense	0			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1101C>G	16.37:g.67763629G>C	ENSP00000316589:p.Ser367Arg		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.S367R	ENST00000317506.3	37	c.1101	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115286	0.37339	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.7	5.7	0.88788	.	0.125811	0.64402	D	0.000001	T	0.58637	0.2136	L	0.54323	1.7	0.80722	D	1	B;B;B	0.21381	0.0;0.055;0.003	B;B;B	0.30029	0.003;0.11;0.022	T	0.53858	-0.8379	9	0.31617	T	0.26	-13.258	11.996	0.53204	0.08:0.0:0.92:0.0	.	250;311;367	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	R	367;311;138;250	.	ENSP00000316589:S367R	S	-	3	2	RANBP10	66321130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.229000	0.78088	2.700000	0.92200	0.563000	0.77884	AGC	RANBP10	-	NULL	ENSG00000141084		0.612	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	-	0.00	84	0	G	NM_020850		67763629	-1	tier1	-	no_errors	ENST00000317506	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C
RANBP10	57610	genome.wustl.edu	37	16	67763629	67763629	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:67763629G>C	ENST00000317506.3	-	9	1216	c.1101C>G	c.(1099-1101)agC>agG	p.S367R	RANBP10_ENST00000602677.1_Missense_Mutation_p.S367R|RANBP10_ENST00000536251.1_Missense_Mutation_p.S138R|RANBP10_ENST00000448631.2_Missense_Mutation_p.S311R|RANBP10_ENST00000411657.2_Missense_Mutation_p.S250R	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	367	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGGACTGAGGCTGGGGGAGC	0.612																																																	0													68.0	70.0	69.0					16																	67763629		2198	4300	6498	SO:0001583	missense	0			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1101C>G	16.37:g.67763629G>C	ENSP00000316589:p.Ser367Arg		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.S367R	ENST00000317506.3	37	c.1101	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115286	0.37339	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.7	5.7	0.88788	.	0.125811	0.64402	D	0.000001	T	0.58637	0.2136	L	0.54323	1.7	0.80722	D	1	B;B;B	0.21381	0.0;0.055;0.003	B;B;B	0.30029	0.003;0.11;0.022	T	0.53858	-0.8379	9	0.31617	T	0.26	-13.258	11.996	0.53204	0.08:0.0:0.92:0.0	.	250;311;367	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	R	367;311;138;250	.	ENSP00000316589:S367R	S	-	3	2	RANBP10	66321130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.229000	0.78088	2.700000	0.92200	0.563000	0.77884	AGC	RANBP10	-	NULL	ENSG00000141084		0.612	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	-	0.00	87	0	G	NM_020850		67763629	-1	tier1	-	no_errors	ENST00000317506	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C
RASA1	5921	genome.wustl.edu	37	5	86627277	86627277	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:86627277C>T	ENST00000274376.6	+	2	1216	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	RASA1_ENST00000506290.1_Missense_Mutation_p.L52F|RASA1_ENST00000512763.1_Missense_Mutation_p.L51F|RASA1_ENST00000456692.2_Missense_Mutation_p.L41F	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	218	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTCCTTTGTACTTTCATTTCT	0.388																																																	0													165.0	159.0	161.0					5																	86627277		2203	4300	6503	SO:0001583	missense	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.652C>T	5.37:g.86627277C>T	ENSP00000274376:p.Leu218Phe		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.L218F	ENST00000274376.6	37	c.652	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	31	5.076877	0.94000	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.35	5.35	0.76521	SH2 motif (5);	0.141869	0.49305	D	0.000158	D	0.93618	0.7962	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.995;0.997;0.999;0.997;0.995;0.998	D	0.95557	0.8626	10	0.87932	D	0	.	19.0646	0.93104	0.0:1.0:0.0:0.0	.	52;51;251;52;41;218	E9PGC0;B4DTL2;Q59GK3;B4DTX4;P20936-2;P20936	.;.;.;.;.;RASA1_HUMAN	F	218;251;41;51;52	ENSP00000274376:L218F;ENSP00000411221:L41F;ENSP00000422008:L51F;ENSP00000420905:L52F	ENSP00000274376:L218F	L	+	1	0	RASA1	86663033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.678000	0.68153	2.510000	0.84645	0.585000	0.79938	CTT	RASA1	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000145715		0.388	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1		0.00	18	0	C	NM_002890		86627277	+1			no_errors	ENST00000274376	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T
RASA4B	100271927	genome.wustl.edu	37	7	102147216	102147216	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:102147216G>A	ENST00000465829.1	-	5	424	c.354C>T	c.(352-354)ggC>ggT	p.G118G	AC093668.1_ENST00000459585.1_RNA|RASA4B_ENST00000306682.6_Silent_p.G46G|RP11-514P8.8_ENST00000481893.1_RNA|RASA4B_ENST00000541662.1_Silent_p.G118G			C9J798	RAS4B_HUMAN	RAS p21 protein activator 4B	118					intracellular signal transduction (GO:0035556)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			skin(1)	1						GGTGGATCTCGCCCTGCACCT	0.711																																																	0																																										SO:0001819	synonymous_variant	0				CCDS59506.1	7q22.1	2013-01-10			ENSG00000170667	ENSG00000170667		"""Pleckstrin homology (PH) domain containing"""	35202	protein-coding gene	gene with protein product							Standard	NM_001277335		Approved		uc003uzu.2	C9J798	OTTHUMG00000022944	ENST00000465829.1:c.354C>T	7.37:g.102147216G>A				Silent	SNP	pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_C2_dom	p.G118	ENST00000465829.1	37	c.354		7																																																																																			RASA4B	-	superfamily_C2_dom	ENSG00000170667		0.711	RASA4B-001	KNOWN	basic|appris_candidate_longest	protein_coding	RASA4B	HGNC	protein_coding	OTTHUMT00000059600.6	-	0.00	84	0	G	XM_003118600		102147216	-1	tier1	-	no_errors	ENST00000465829	ensembl	human	known	74_37	silent	25.45	164	56	SNP	0.757	A
RASA4	10156	genome.wustl.edu	37	7	102246379	102246379	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:102246379G>A	ENST00000262940.7	-	5	421	c.354C>T	c.(352-354)ggC>ggT	p.G118G	RASA4_ENST00000449970.2_Silent_p.G118G|RP11-514P8.6_ENST00000519541.1_3'UTR|RASA4_ENST00000462172.1_Silent_p.G46G|RASA4_ENST00000461209.1_Silent_p.G46G|AC105052.1_ENST00000411396.1_RNA	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN	RAS p21 protein activator 4	118					cellular response to calcium ion (GO:0071277)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			lung(1)|prostate(1)|urinary_tract(1)	3						GGTGGATCTCGCCCTGCACCT	0.711																																																	0													25.0	14.0	18.0					7																	102246379		2163	4032	6195	SO:0001819	synonymous_variant	0			AB011110	CCDS5725.1, CCDS47674.1	7q22-q31.1	2008-12-05			ENSG00000105808	ENSG00000105808			23181	protein-coding gene	gene with protein product		607943				11448776	Standard	NM_001079877		Approved	KIAA0538, CAPRI, GAPL	uc003vae.3	O43374	OTTHUMG00000150383	ENST00000262940.7:c.354C>T	7.37:g.102246379G>A			O60286|Q14CQ4|Q86UW3|Q96QU0	Silent	SNP	pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.G118	ENST00000262940.7	37	c.354	CCDS5725.1	7																																																																																			RASA4	-	superfamily_C2_dom	ENSG00000105808		0.711	RASA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA4	HGNC	protein_coding	OTTHUMT00000317900.3	-	0.00	223	0	G	NM_006989		102246379	-1	tier1	-	no_errors	ENST00000262940	ensembl	human	known	74_37	silent	15.83	217	41	SNP	0.667	A
RASA4	10156	genome.wustl.edu	37	7	102246379	102246379	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:102246379G>A	ENST00000262940.7	-	5	421	c.354C>T	c.(352-354)ggC>ggT	p.G118G	RASA4_ENST00000449970.2_Silent_p.G118G|RP11-514P8.6_ENST00000519541.1_3'UTR|RASA4_ENST00000462172.1_Silent_p.G46G|RASA4_ENST00000461209.1_Silent_p.G46G|AC105052.1_ENST00000411396.1_RNA	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN	RAS p21 protein activator 4	118					cellular response to calcium ion (GO:0071277)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			lung(1)|prostate(1)|urinary_tract(1)	3						GGTGGATCTCGCCCTGCACCT	0.711																																																	0													25.0	14.0	18.0					7																	102246379		2163	4032	6195	SO:0001819	synonymous_variant	0			AB011110	CCDS5725.1, CCDS47674.1	7q22-q31.1	2008-12-05			ENSG00000105808	ENSG00000105808			23181	protein-coding gene	gene with protein product		607943				11448776	Standard	NM_001079877		Approved	KIAA0538, CAPRI, GAPL	uc003vae.3	O43374	OTTHUMG00000150383	ENST00000262940.7:c.354C>T	7.37:g.102246379G>A			O60286|Q14CQ4|Q86UW3|Q96QU0	Silent	SNP	pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.G118	ENST00000262940.7	37	c.354	CCDS5725.1	7																																																																																			RASA4	-	superfamily_C2_dom	ENSG00000105808		0.711	RASA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA4	HGNC	protein_coding	OTTHUMT00000317900.3	-	0.00	248	0	G	NM_006989		102246379	-1	tier1	-	no_errors	ENST00000262940	ensembl	human	known	74_37	silent	15.83	217	41	SNP	0.667	A
RASGRF1	5923	genome.wustl.edu	37	15	79350703	79350703	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:79350703C>G	ENST00000419573.3	-	3	778	c.504G>C	c.(502-504)gaG>gaC	p.E168D	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E168D|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	168					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGATCTCGATCTCCCCATCCT	0.602																																																	0													107.0	90.0	96.0					15																	79350703		2196	4293	6489	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.504G>C	15.37:g.79350703C>G	ENSP00000405963:p.Glu168Asp		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E168D	ENST00000419573.3	37	c.504	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	3.728	-0.056151	0.07362	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.39997	1.05	4.59	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.10450	0.002;0.002;0.002;0.005	T	0.06267	-1.0836	10	0.10902	T	0.67	.	12.2456	0.54568	0.0:0.827:0.173:0.0	.	168;168;168;168	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	D	168	ENSP00000405963:E168D	ENSP00000378224:E168D	E	-	3	2	RASGRF1	77137758	0.998000	0.40836	0.968000	0.41197	0.930000	0.56654	0.499000	0.22546	1.100000	0.41517	0.542000	0.68232	GAG	RASGRF1	-	NULL	ENSG00000058335		0.602	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0.00	57	0	C	NM_002891		79350703	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	G
RB1CC1	9821	genome.wustl.edu	37	8	53570013	53570013	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:53570013A>C	ENST00000025008.5	-	15	2899	c.2376T>G	c.(2374-2376)acT>acG	p.T792T	RB1CC1_ENST00000539297.1_Silent_p.T792T|RB1CC1_ENST00000435644.2_Silent_p.T792T|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	792					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CATTCAGAGAAGTATGATCTC	0.388																																					GBM(180;1701 2102 13475 42023 52570)												0													164.0	152.0	156.0					8																	53570013		2203	4300	6503	SO:0001819	synonymous_variant	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2376T>G	8.37:g.53570013A>C			Q86YR4|Q8WVU9|Q92601	Silent	SNP	pfam_Autophagy-rel_p11	p.T792	ENST00000025008.5	37	c.2376	CCDS34892.1	8																																																																																			RB1CC1	-	NULL	ENSG00000023287		0.388	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	-	0.00	29	0	A	NM_014781		53570013	-1	tier1	-	no_errors	ENST00000025008	ensembl	human	known	74_37	silent	43.14	29	22	SNP	0.000	C
RB1CC1	9821	genome.wustl.edu	37	8	53570013	53570013	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:53570013A>C	ENST00000025008.5	-	15	2899	c.2376T>G	c.(2374-2376)acT>acG	p.T792T	RB1CC1_ENST00000539297.1_Silent_p.T792T|RB1CC1_ENST00000435644.2_Silent_p.T792T|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	792					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CATTCAGAGAAGTATGATCTC	0.388																																					GBM(180;1701 2102 13475 42023 52570)												0													164.0	152.0	156.0					8																	53570013		2203	4300	6503	SO:0001819	synonymous_variant	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2376T>G	8.37:g.53570013A>C			Q86YR4|Q8WVU9|Q92601	Silent	SNP	pfam_Autophagy-rel_p11	p.T792	ENST00000025008.5	37	c.2376	CCDS34892.1	8																																																																																			RB1CC1	-	NULL	ENSG00000023287		0.388	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	-	0.00	53	0	A	NM_014781		53570013	-1	tier1	-	no_errors	ENST00000025008	ensembl	human	known	74_37	silent	43.14	29	22	SNP	0.000	C
RBMXL2	27288	genome.wustl.edu	37	11	7110519	7110519	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:7110519T>C	ENST00000306904.5	+	1	355	c.168T>C	c.(166-168)ttT>ttC	p.F56F		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	56	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGTCACCTTTGAAAGCCCCG	0.607																																																	0													34.0	32.0	32.0					11																	7110519		2200	4295	6495	SO:0001819	synonymous_variant	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.168T>C	11.37:g.7110519T>C			Q6PEZ2|Q9NQU0	Silent	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.F56	ENST00000306904.5	37	c.168	CCDS7777.1	11																																																																																			RBMXL2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000170748		0.607	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0.00	114	0	T	NM_014469		7110519	+1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	silent	5.95	79	5	SNP	1.000	C
RBMXL2	27288	genome.wustl.edu	37	11	7110519	7110519	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:7110519T>C	ENST00000306904.5	+	1	355	c.168T>C	c.(166-168)ttT>ttC	p.F56F		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	56	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGTCACCTTTGAAAGCCCCG	0.607																																																	0													34.0	32.0	32.0					11																	7110519		2200	4295	6495	SO:0001819	synonymous_variant	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.168T>C	11.37:g.7110519T>C			Q6PEZ2|Q9NQU0	Silent	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.F56	ENST00000306904.5	37	c.168	CCDS7777.1	11																																																																																			RBMXL2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000170748		0.607	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0.00	120	0	T	NM_014469		7110519	+1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	silent	5.95	79	5	SNP	1.000	C
RBMY2EP	159125	genome.wustl.edu	37	Y	23557170	23557170	+	RNA	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrY:23557170A>T	ENST00000444169.1	-	0	397					NR_001574.2				RNA binding motif protein, Y-linked, family 2, member E pseudogene																		GTGCACCATGAGAGGTCCCTG	0.418																																																	0																																												0			U94388		Yq11.223	2013-08-05			ENSG00000242300	ENSG00000223637			23890	pseudogene	pseudogene						12815422, 9344660	Standard	NR_001574		Approved		uc004fun.1		OTTHUMG00000042038		Y.37:g.23557170A>T				RNA	SNP	-	NULL	ENST00000444169.1	37	NULL		Y																																																																																			RBMY2EP	-	-	ENSG00000223637		0.418	RBMY2EP-002	KNOWN	basic	processed_transcript	RBMY2EP	HGNC	pseudogene	OTTHUMT00000471819.1	-	0.00	146	0	A	NR_001574		23557170	-1	tier1	-	no_errors	ENST00000444169	ensembl	human	known	74_37	rna	51.85	51	56	SNP	1.000	T
RBMY2EP	159125	genome.wustl.edu	37	Y	23557170	23557170	+	RNA	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrY:23557170A>T	ENST00000444169.1	-	0	397					NR_001574.2				RNA binding motif protein, Y-linked, family 2, member E pseudogene																		GTGCACCATGAGAGGTCCCTG	0.418																																																	0																																												0			U94388		Yq11.223	2013-08-05			ENSG00000242300	ENSG00000223637			23890	pseudogene	pseudogene						12815422, 9344660	Standard	NR_001574		Approved		uc004fun.1		OTTHUMG00000042038		Y.37:g.23557170A>T				RNA	SNP	-	NULL	ENST00000444169.1	37	NULL		Y																																																																																			RBMY2EP	-	-	ENSG00000223637		0.418	RBMY2EP-002	KNOWN	basic	processed_transcript	RBMY2EP	HGNC	pseudogene	OTTHUMT00000471819.1	-	0.00	164	0	A	NR_001574		23557170	-1	tier1	-	no_errors	ENST00000444169	ensembl	human	known	74_37	rna	51.85	51	56	SNP	1.000	T
RC3H2	54542	genome.wustl.edu	37	9	125659575	125659575	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:125659575G>T	ENST00000373670.1	-	1	814	c.214C>A	c.(214-216)Cag>Aag	p.Q72K	RC3H2_ENST00000357244.2_Missense_Mutation_p.Q72K|RC3H2_ENST00000423239.2_Missense_Mutation_p.Q72K|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000471874.2_Missense_Mutation_p.Q72K|RC3H2_ENST00000335387.5_Missense_Mutation_p.Q72K|RC3H2_ENST00000373665.2_Missense_Mutation_p.Q72K			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	72					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CCAACTAACTGGAGAAGTGCG	0.403																																																	0													69.0	65.0	66.0					9																	125659575		1897	4123	6020	SO:0001583	missense	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.214C>A	9.37:g.125659575G>T	ENSP00000362774:p.Gln72Lys		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.Q72K	ENST00000373670.1	37	c.214	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276268	0.80580	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45	6.17	5.27	0.74061	.	0.061025	0.64402	N	0.000002	D	0.90655	0.7069	L	0.28458	0.855	0.54753	D	0.999986	B;B;B;B	0.31227	0.103;0.001;0.314;0.002	B;B;B;B	0.30855	0.023;0.001;0.121;0.003	D	0.88771	0.3264	10	0.41790	T	0.15	-8.3199	16.1728	0.81831	0.0:0.0:0.8659:0.1341	.	72;72;72;72	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	K	72	ENSP00000362774:Q72K;ENSP00000349783:Q72K;ENSP00000411767:Q72K;ENSP00000362769:Q72K;ENSP00000335150:Q72K	ENSP00000335150:Q72K	Q	-	1	0	RC3H2	124699396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	1.610000	0.50200	0.655000	0.94253	CAG	RC3H2	-	NULL	ENSG00000056586		0.403	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1		0.00	72	0	G	NM_018835		125659575	-1			no_errors	ENST00000357244	ensembl	human	known	74_37	missense	5.71	65	4	SNP	1.000	T
RDH10	157506	genome.wustl.edu	37	8	74209587	74209587	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:74209587T>C	ENST00000240285.5	+	2	1126	c.448T>C	c.(448-450)Tct>Cct	p.S150P	RP11-434I12.2_ENST00000520894.1_RNA|RPL7_ENST00000396465.1_5'Flank|RPL7_ENST00000396466.1_5'Flank|RDH10_ENST00000519380.1_5'UTR	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	150					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TGGTGTGGTCTCTGGGCATCA	0.493																																																	0													250.0	205.0	220.0					8																	74209587		2203	4300	6503	SO:0001583	missense	0			AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.448T>C	8.37:g.74209587T>C	ENSP00000240285:p.Ser150Pro			Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.S150P	ENST00000240285.5	37	c.448	CCDS6213.1	8	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933541	0.73442	.	.	ENSG00000121039	ENST00000240285	D	0.87412	-2.25	4.84	4.84	0.62591	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86201	0.5876	N	0.17872	0.535	0.80722	D	1	D	0.64830	0.994	P	0.60789	0.879	D	0.84824	0.0798	10	0.27082	T	0.32	.	14.8732	0.70474	0.0:0.0:0.0:1.0	.	150	Q8IZV5	RDH10_HUMAN	P	150	ENSP00000240285:S150P	ENSP00000240285:S150P	S	+	1	0	RDH10	74372141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.216000	0.51176	2.157000	0.67596	0.533000	0.62120	TCT	RDH10	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000121039		0.493	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH10	HGNC	protein_coding	OTTHUMT00000378982.1	-	0.00	99	0	T			74209587	+1	tier1	-	no_errors	ENST00000240285	ensembl	human	known	74_37	missense	9.46	67	7	SNP	1.000	C
REL	5966	genome.wustl.edu	37	2	61149328	61149328	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:61149328G>T	ENST00000295025.8	+	11	1838	c.1518G>T	c.(1516-1518)atG>atT	p.M506I	REL_ENST00000394479.3_Missense_Mutation_p.M474I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	506					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GTGACAGCATGGGAGAGACTG	0.423			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													120.0	114.0	116.0					2																	61149328		2203	4300	6503	SO:0001583	missense	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1518G>T	2.37:g.61149328G>T	ENSP00000295025:p.Met506Ile		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.M506I	ENST00000295025.8	37	c.1518	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948334	0.18356	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.48522	0.81;0.89	5.54	2.59	0.31030	.	0.427303	0.24985	N	0.034030	T	0.30665	0.0772	L	0.32530	0.975	0.26438	N	0.975822	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.14643	-1.0465	10	0.20046	T	0.44	-9.0909	6.7716	0.23596	0.0822:0.0:0.6045:0.3133	.	474;506	Q17RU2;Q04864	.;REL_HUMAN	I	506;474	ENSP00000295025:M506I;ENSP00000377989:M474I	ENSP00000295025:M506I	M	+	3	0	REL	61002832	1.000000	0.71417	0.492000	0.27490	0.800000	0.45204	1.389000	0.34453	0.702000	0.31825	-0.188000	0.12872	ATG	REL	-	NULL	ENSG00000162924		0.423	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	-	0.00	36	0	G	NM_002908		61149328	+1	tier1	-	no_errors	ENST00000295025	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.932	T
REL	5966	genome.wustl.edu	37	2	61149328	61149328	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:61149328G>T	ENST00000295025.8	+	11	1838	c.1518G>T	c.(1516-1518)atG>atT	p.M506I	REL_ENST00000394479.3_Missense_Mutation_p.M474I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	506					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GTGACAGCATGGGAGAGACTG	0.423			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													120.0	114.0	116.0					2																	61149328		2203	4300	6503	SO:0001583	missense	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1518G>T	2.37:g.61149328G>T	ENSP00000295025:p.Met506Ile		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.M506I	ENST00000295025.8	37	c.1518	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948334	0.18356	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.48522	0.81;0.89	5.54	2.59	0.31030	.	0.427303	0.24985	N	0.034030	T	0.30665	0.0772	L	0.32530	0.975	0.26438	N	0.975822	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.14643	-1.0465	10	0.20046	T	0.44	-9.0909	6.7716	0.23596	0.0822:0.0:0.6045:0.3133	.	474;506	Q17RU2;Q04864	.;REL_HUMAN	I	506;474	ENSP00000295025:M506I;ENSP00000377989:M474I	ENSP00000295025:M506I	M	+	3	0	REL	61002832	1.000000	0.71417	0.492000	0.27490	0.800000	0.45204	1.389000	0.34453	0.702000	0.31825	-0.188000	0.12872	ATG	REL	-	NULL	ENSG00000162924		0.423	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	-	0.00	49	0	G	NM_002908		61149328	+1	tier1	-	no_errors	ENST00000295025	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.932	T
REL	5966	genome.wustl.edu	37	2	61149587	61149587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:61149587C>T	ENST00000295025.8	+	11	2097	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	REL_ENST00000394479.3_Nonsense_Mutation_p.Q561*	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	593					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TGGTTTTGTTCAAGATAGTCA	0.363			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													70.0	66.0	67.0					2																	61149587		2203	4300	6503	SO:0001587	stop_gained	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1777C>T	2.37:g.61149587C>T	ENSP00000295025:p.Gln593*		Q17RU2|Q2PNZ7|Q6LDY0	Nonsense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.Q593*	ENST00000295025.8	37	c.1777	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740894	0.89573	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	.	.	.	5.74	5.74	0.90152	.	1.077630	0.07082	N	0.837188	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-54.1383	16.6519	0.85218	0.0:1.0:0.0:0.0	.	.	.	.	X	593;561	.	ENSP00000295025:Q593X	Q	+	1	0	REL	61003091	0.750000	0.28316	0.918000	0.36340	0.396000	0.30629	1.266000	0.33039	2.720000	0.93068	0.650000	0.86243	CAA	REL	-	NULL	ENSG00000162924		0.363	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3		0.00	69	0	C	NM_002908		61149587	+1			no_errors	ENST00000295025	ensembl	human	known	74_37	nonsense	9.09	40	4	SNP	0.400	T
RELB	5971	genome.wustl.edu	37	19	45532204	45532204	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:45532204C>A	ENST00000221452.8	+	8	1095	c.945C>A	c.(943-945)tgC>tgA	p.C315*	RELB_ENST00000540120.1_Nonsense_Mutation_p.C315*|RELB_ENST00000505236.1_Nonsense_Mutation_p.C312*	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	315	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCGGGCCGTGCACCGGTGGCG	0.552																																																	0													27.0	28.0	28.0					19																	45532204		1932	4134	6066	SO:0001587	stop_gained	0			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.945C>A	19.37:g.45532204C>A	ENSP00000221452:p.Cys315*		Q6GTX7|Q9UEI7	Nonsense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.C315*	ENST00000221452.8	37	c.945	CCDS46110.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.222133	0.97390	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	.	.	.	5.22	1.87	0.25490	.	0.123358	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1785	9.1714	0.37083	0.0:0.7528:0.0:0.2472	.	.	.	.	X	315;315;312	.	ENSP00000221452:C315X	C	+	3	2	RELB	50224044	0.881000	0.30235	0.998000	0.56505	0.959000	0.62525	0.504000	0.22626	0.773000	0.33404	0.655000	0.94253	TGC	RELB	-	superfamily_Ig_E-set,smart_IPT	ENSG00000104856		0.552	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	-	0.00	101	0	C			45532204	+1	tier1	-	no_errors	ENST00000221452	ensembl	human	known	74_37	nonsense	26.85	77	29	SNP	0.913	A
RELB	5971	genome.wustl.edu	37	19	45532204	45532204	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:45532204C>A	ENST00000221452.8	+	8	1095	c.945C>A	c.(943-945)tgC>tgA	p.C315*	RELB_ENST00000540120.1_Nonsense_Mutation_p.C315*|RELB_ENST00000505236.1_Nonsense_Mutation_p.C312*	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	315	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCGGGCCGTGCACCGGTGGCG	0.552																																																	0													27.0	28.0	28.0					19																	45532204		1932	4134	6066	SO:0001587	stop_gained	0			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.945C>A	19.37:g.45532204C>A	ENSP00000221452:p.Cys315*		Q6GTX7|Q9UEI7	Nonsense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.C315*	ENST00000221452.8	37	c.945	CCDS46110.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.222133	0.97390	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	.	.	.	5.22	1.87	0.25490	.	0.123358	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1785	9.1714	0.37083	0.0:0.7528:0.0:0.2472	.	.	.	.	X	315;315;312	.	ENSP00000221452:C315X	C	+	3	2	RELB	50224044	0.881000	0.30235	0.998000	0.56505	0.959000	0.62525	0.504000	0.22626	0.773000	0.33404	0.655000	0.94253	TGC	RELB	-	superfamily_Ig_E-set,smart_IPT	ENSG00000104856		0.552	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	-	0.00	87	0	C			45532204	+1	tier1	-	no_errors	ENST00000221452	ensembl	human	known	74_37	nonsense	26.85	77	29	SNP	0.913	A
RFC5	5985	genome.wustl.edu	37	12	118462695	118462695	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:118462695T>C	ENST00000454402.2	+	6	579	c.461T>C	c.(460-462)aTc>aCc	p.I154T	RFC5_ENST00000392542.2_Missense_Mutation_p.I133T|RFC5_ENST00000229043.3_Missense_Mutation_p.I69T	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	154					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTGCCTCATCTGTAACTAT	0.458																																																	0													84.0	87.0	86.0					12																	118462695		2203	4300	6503	SO:0001583	missense	0				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.461T>C	12.37:g.118462695T>C	ENSP00000408295:p.Ile154Thr		A8MZ62|B3KSX8	Missense_Mutation	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.I154T	ENST00000454402.2	37	c.461	CCDS9185.1	12	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652223	0.88056	.	.	ENSG00000111445	ENST00000449641;ENST00000537315;ENST00000229043;ENST00000454402;ENST00000392542	T;T;D	0.92149	1.13;1.24;-2.98	5.47	5.47	0.80525	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95023	0.8389	M	0.64676	1.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.95009	0.8150	10	0.52906	T	0.07	-20.4498	14.5424	0.68005	0.0:0.0:0.0:1.0	.	133;168;154	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	T	69;69;69;154;133	ENSP00000229043:I69T;ENSP00000408295:I154T;ENSP00000376325:I133T	ENSP00000229043:I69T	I	+	2	0	RFC5	116947078	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.934000	0.87649	2.071000	0.62044	0.460000	0.39030	ATC	RFC5	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000111445		0.458	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2	-	0.00	51	0	T	NM_007370		118462695	+1	tier1	-	no_errors	ENST00000454402	ensembl	human	known	74_37	missense	12.70	55	8	SNP	1.000	C
RFC5	5985	genome.wustl.edu	37	12	118462695	118462695	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:118462695T>C	ENST00000454402.2	+	6	579	c.461T>C	c.(460-462)aTc>aCc	p.I154T	RFC5_ENST00000392542.2_Missense_Mutation_p.I133T|RFC5_ENST00000229043.3_Missense_Mutation_p.I69T	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	154					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTGCCTCATCTGTAACTAT	0.458																																																	0													84.0	87.0	86.0					12																	118462695		2203	4300	6503	SO:0001583	missense	0				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.461T>C	12.37:g.118462695T>C	ENSP00000408295:p.Ile154Thr		A8MZ62|B3KSX8	Missense_Mutation	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.I154T	ENST00000454402.2	37	c.461	CCDS9185.1	12	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652223	0.88056	.	.	ENSG00000111445	ENST00000449641;ENST00000537315;ENST00000229043;ENST00000454402;ENST00000392542	T;T;D	0.92149	1.13;1.24;-2.98	5.47	5.47	0.80525	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95023	0.8389	M	0.64676	1.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.95009	0.8150	10	0.52906	T	0.07	-20.4498	14.5424	0.68005	0.0:0.0:0.0:1.0	.	133;168;154	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	T	69;69;69;154;133	ENSP00000229043:I69T;ENSP00000408295:I154T;ENSP00000376325:I133T	ENSP00000229043:I69T	I	+	2	0	RFC5	116947078	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.934000	0.87649	2.071000	0.62044	0.460000	0.39030	ATC	RFC5	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000111445		0.458	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2	-	0.00	58	0	T	NM_007370		118462695	+1	tier1	-	no_errors	ENST00000454402	ensembl	human	known	74_37	missense	12.70	55	8	SNP	1.000	C
RFWD3	55159	genome.wustl.edu	37	16	74670448	74670448	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:74670448T>C	ENST00000361070.4	-	8	1319	c.1222A>G	c.(1222-1224)Agt>Ggt	p.S408G	RFWD3_ENST00000571750.1_Missense_Mutation_p.S408G	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	408					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						AAATTCTGACTTTGATGTGAC	0.418																																																	0													62.0	65.0	64.0					16																	74670448		2198	4300	6498	SO:0001583	missense	0			AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1222A>G	16.37:g.74670448T>C	ENSP00000354361:p.Ser408Gly		A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.S408G	ENST00000361070.4	37	c.1222	CCDS32486.1	16	.	.	.	.	.	.	.	.	.	.	T	3.751	-0.051614	0.07362	.	.	ENSG00000168411	ENST00000361070	T	0.18502	2.21	5.67	1.46	0.22682	WD40/YVTN repeat-like-containing domain (1);	1.685220	0.02751	N	0.117497	T	0.07007	0.0178	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33675	-0.9859	10	0.19590	T	0.45	-3.1025	10.0978	0.42486	0.0:0.6636:0.0:0.3364	.	408	Q6PCD5	RFWD3_HUMAN	G	408	ENSP00000354361:S408G	ENSP00000354361:S408G	S	-	1	0	RFWD3	73227949	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.064000	0.14437	0.045000	0.15804	-0.912000	0.02778	AGT	RFWD3	-	NULL	ENSG00000168411		0.418	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	HGNC	protein_coding	OTTHUMT00000436506.2	-	0.00	51	0	T	NM_018124		74670448	-1	tier1	-	no_errors	ENST00000361070	ensembl	human	known	74_37	missense	24.00	38	12	SNP	0.000	C
RFWD3	55159	genome.wustl.edu	37	16	74670448	74670448	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:74670448T>C	ENST00000361070.4	-	8	1319	c.1222A>G	c.(1222-1224)Agt>Ggt	p.S408G	RFWD3_ENST00000571750.1_Missense_Mutation_p.S408G	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	408					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						AAATTCTGACTTTGATGTGAC	0.418																																																	0													62.0	65.0	64.0					16																	74670448		2198	4300	6498	SO:0001583	missense	0			AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1222A>G	16.37:g.74670448T>C	ENSP00000354361:p.Ser408Gly		A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.S408G	ENST00000361070.4	37	c.1222	CCDS32486.1	16	.	.	.	.	.	.	.	.	.	.	T	3.751	-0.051614	0.07362	.	.	ENSG00000168411	ENST00000361070	T	0.18502	2.21	5.67	1.46	0.22682	WD40/YVTN repeat-like-containing domain (1);	1.685220	0.02751	N	0.117497	T	0.07007	0.0178	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33675	-0.9859	10	0.19590	T	0.45	-3.1025	10.0978	0.42486	0.0:0.6636:0.0:0.3364	.	408	Q6PCD5	RFWD3_HUMAN	G	408	ENSP00000354361:S408G	ENSP00000354361:S408G	S	-	1	0	RFWD3	73227949	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.064000	0.14437	0.045000	0.15804	-0.912000	0.02778	AGT	RFWD3	-	NULL	ENSG00000168411		0.418	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	HGNC	protein_coding	OTTHUMT00000436506.2	-	0.00	60	0	T	NM_018124		74670448	-1	tier1	-	no_errors	ENST00000361070	ensembl	human	known	74_37	missense	24.00	38	12	SNP	0.000	C
RGAG1	57529	genome.wustl.edu	37	X	109697820	109697820	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:109697820G>T	ENST00000465301.2	+	3	4221	c.3975G>T	c.(3973-3975)ctG>ctT	p.L1325L	RGAG1_ENST00000540313.1_Silent_p.L1325L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1325										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCAGGTTCTGCCAACAGCCT	0.547																																																	0													46.0	44.0	44.0					X																	109697820		2203	4300	6503	SO:0001819	synonymous_variant	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3975G>T	X.37:g.109697820G>T			Q9P2M8	Silent	SNP	NULL	p.L1325	ENST00000465301.2	37	c.3975	CCDS14552.1	X																																																																																			RGAG1	-	NULL	ENSG00000243978		0.547	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	-	0.00	25	0	G	NM_020769		109697820	+1	tier1	-	no_errors	ENST00000465301	ensembl	human	known	74_37	silent	77.42	7	24	SNP	0.027	T
RGAG1	57529	genome.wustl.edu	37	X	109697820	109697820	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:109697820G>T	ENST00000465301.2	+	3	4221	c.3975G>T	c.(3973-3975)ctG>ctT	p.L1325L	RGAG1_ENST00000540313.1_Silent_p.L1325L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1325										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCAGGTTCTGCCAACAGCCT	0.547																																																	0													46.0	44.0	44.0					X																	109697820		2203	4300	6503	SO:0001819	synonymous_variant	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3975G>T	X.37:g.109697820G>T			Q9P2M8	Silent	SNP	NULL	p.L1325	ENST00000465301.2	37	c.3975	CCDS14552.1	X																																																																																			RGAG1	-	NULL	ENSG00000243978		0.547	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	-	0.00	39	0	G	NM_020769		109697820	+1	tier1	-	no_errors	ENST00000465301	ensembl	human	known	74_37	silent	77.42	7	24	SNP	0.027	T
RGL4	266747	genome.wustl.edu	37	22	24036564	24036564	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:24036564G>T	ENST00000290691.5	+	5	2113	c.943G>T	c.(943-945)Gtg>Ttg	p.V315L	AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.V179L|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	315	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTTCTCCTCGGTGCACGTCAT	0.582																																																	0													165.0	108.0	127.0					22																	24036564		2203	4300	6503	SO:0001583	missense	0				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.943G>T	22.37:g.24036564G>T	ENSP00000290691:p.Val315Leu		Q495L8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	p.V315L	ENST00000290691.5	37	c.943	CCDS13811.1	22	.	.	.	.	.	.	.	.	.	.	g	0.027	-1.361471	0.01235	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.25912	1.77;1.77;1.77	1.91	-3.82	0.04281	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.929529	0.08900	N	0.877377	T	0.07818	0.0196	N	0.03967	-0.31	0.09310	N	1	B;B;B;B	0.27013	0.166;0.064;0.166;0.166	B;B;B;B	0.35073	0.097;0.055;0.195;0.195	T	0.21008	-1.0258	10	0.02654	T	1	.	0.214	0.00159	0.2772:0.1922:0.2793:0.2513	.	179;179;315;315	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	L	179;315;315;315	ENSP00000383951:V179L;ENSP00000290691:V315L;ENSP00000402142:V315L	ENSP00000290691:V315L	V	+	1	0	RGL4	22366564	0.505000	0.26131	0.000000	0.03702	0.002000	0.02628	0.719000	0.25881	-1.972000	0.01001	-0.491000	0.04670	GTG	RGL4	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000159496		0.582	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGL4	HGNC	protein_coding	OTTHUMT00000319711.1	-	0.00	51	0	G	NM_153615		24036564	+1	tier1	-	no_errors	ENST00000290691	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.005	T
RGL4	266747	genome.wustl.edu	37	22	24036564	24036564	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:24036564G>T	ENST00000290691.5	+	5	2113	c.943G>T	c.(943-945)Gtg>Ttg	p.V315L	AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.V179L|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	315	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTTCTCCTCGGTGCACGTCAT	0.582																																																	0													165.0	108.0	127.0					22																	24036564		2203	4300	6503	SO:0001583	missense	0				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.943G>T	22.37:g.24036564G>T	ENSP00000290691:p.Val315Leu		Q495L8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	p.V315L	ENST00000290691.5	37	c.943	CCDS13811.1	22	.	.	.	.	.	.	.	.	.	.	g	0.027	-1.361471	0.01235	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.25912	1.77;1.77;1.77	1.91	-3.82	0.04281	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.929529	0.08900	N	0.877377	T	0.07818	0.0196	N	0.03967	-0.31	0.09310	N	1	B;B;B;B	0.27013	0.166;0.064;0.166;0.166	B;B;B;B	0.35073	0.097;0.055;0.195;0.195	T	0.21008	-1.0258	10	0.02654	T	1	.	0.214	0.00159	0.2772:0.1922:0.2793:0.2513	.	179;179;315;315	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	L	179;315;315;315	ENSP00000383951:V179L;ENSP00000290691:V315L;ENSP00000402142:V315L	ENSP00000290691:V315L	V	+	1	0	RGL4	22366564	0.505000	0.26131	0.000000	0.03702	0.002000	0.02628	0.719000	0.25881	-1.972000	0.01001	-0.491000	0.04670	GTG	RGL4	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000159496		0.582	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGL4	HGNC	protein_coding	OTTHUMT00000319711.1	-	0.00	54	0	G	NM_153615		24036564	+1	tier1	-	no_errors	ENST00000290691	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.005	T
MSMP	692094	genome.wustl.edu	37	9	35752730	35752730	+	IGR	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:35752730C>A	ENST00000436428.2	-	0	670				RGP1_ENST00000378078.4_Silent_p.P345P|RGP1_ENST00000456972.2_Silent_p.P385P|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000545786.1_5'Flank	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated							cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						TGGAACAGCCCGAACCTACCA	0.522																																																	0													70.0	67.0	68.0					9																	35752730		1952	4141	6093	SO:0001628	intergenic_variant	0			DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882		9.37:g.35752730C>A				Silent	SNP	pfam_Rgp1	p.P385	ENST00000436428.2	37	c.1155	CCDS43797.1	9																																																																																			RGP1	-	NULL	ENSG00000107185		0.522	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000052384.2	-	0.00	118	0	C	NM_001044264		35752730	+1	tier1	-	no_errors	ENST00000456972	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.045	A
MSMP	692094	genome.wustl.edu	37	9	35752730	35752730	+	IGR	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:35752730C>A	ENST00000436428.2	-	0	670				RGP1_ENST00000378078.4_Silent_p.P345P|RGP1_ENST00000456972.2_Silent_p.P385P|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000545786.1_5'Flank	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated							cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						TGGAACAGCCCGAACCTACCA	0.522																																																	0													70.0	67.0	68.0					9																	35752730		1952	4141	6093	SO:0001628	intergenic_variant	0			DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882		9.37:g.35752730C>A				Silent	SNP	pfam_Rgp1	p.P385	ENST00000436428.2	37	c.1155	CCDS43797.1	9																																																																																			RGP1	-	NULL	ENSG00000107185		0.522	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000052384.2	-	0.00	131	0	C	NM_001044264		35752730	+1	tier1	-	no_errors	ENST00000456972	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.045	A
RGS3	5998	genome.wustl.edu	37	9	116269826	116269826	+	Missense_Mutation	SNP	G	G	T	rs547398918		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:116269826G>T	ENST00000374140.2	+	14	1554	c.1345G>T	c.(1345-1347)Ggg>Tgg	p.G449W	RGS3_ENST00000343817.5_Missense_Mutation_p.G168W|RGS3_ENST00000374136.1_Missense_Mutation_p.G75W|RGS3_ENST00000394646.3_Missense_Mutation_p.G168W|RGS3_ENST00000317613.6_Missense_Mutation_p.G337W|RGS3_ENST00000350696.5_Missense_Mutation_p.G449W	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	449					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.G449W(1)|p.G345W(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCCAAGCGCGGGGGCCAGCA	0.687																																																	2	Substitution - Missense(2)	lung(2)											20.0	19.0	19.0					9																	116269826		2195	4294	6489	SO:0001583	missense	0			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1345G>T	9.37:g.116269826G>T	ENSP00000363255:p.Gly449Trp		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.G449W	ENST00000374140.2	37	c.1345	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913468	0.52439	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T	0.64260	0.88;0.88;1.23;0.38;-0.09	4.28	2.41	0.29592	.	0.690653	0.15076	N	0.281908	T	0.60366	0.2263	N	0.19112	0.55	0.32881	D	0.510582	P;D;D;D;D;D	0.76494	0.947;0.999;0.996;0.997;0.994;0.999	B;D;D;D;P;D	0.67231	0.443;0.95;0.942;0.913;0.887;0.948	T	0.65590	-0.6131	10	0.87932	D	0	.	6.0578	0.19820	0.2324:0.0:0.7676:0.0	.	168;75;168;339;337;449	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	W	449;449;337;168;168;75	ENSP00000363255:G449W;ENSP00000259406:G449W;ENSP00000312844:G337W;ENSP00000340284:G168W;ENSP00000378141:G168W	ENSP00000312844:G337W	G	+	1	0	RGS3	115309647	0.413000	0.25400	0.034000	0.17996	0.896000	0.52359	1.191000	0.32138	0.731000	0.32448	0.655000	0.94253	GGG	RGS3	-	NULL	ENSG00000138835		0.687	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3		0.00	64	0	G	NM_017790		116269826	+1			no_errors	ENST00000350696	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.142	T
RHD	6007	genome.wustl.edu	37	1	25628086	25628086	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:25628086C>T	ENST00000328664.4	+	5	865	c.710C>T	c.(709-711)gCc>gTc	p.A237V	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.A237V|RHD_ENST00000342055.5_Missense_Mutation_p.A237V|RHD_ENST00000357542.4_Missense_Mutation_p.A237V|RHD_ENST00000568195.1_Missense_Mutation_p.A237V|RHD_ENST00000423810.2_Missense_Mutation_p.A237V|RHD_ENST00000417538.2_Missense_Mutation_p.A237V	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	237						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGAATGCCGTGTTCAAC	0.557																																																	0													197.0	154.0	169.0					1																	25628086		2122	3774	5896	SO:0001583	missense	0			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.710C>T	1.37:g.25628086C>T	ENSP00000331871:p.Ala237Val		Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.A237V	ENST00000328664.4	37	c.710	CCDS262.1	1	.	.	.	.	.	.	.	.	.	.	.	15.89	2.965168	0.53507	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	3.8	1.83	0.25207	Ammonium transporter AmtB-like (3);	0.113575	0.64402	D	0.000015	T	0.45597	0.1350	M	0.80746	2.51	0.43879	D	0.996498	P;P;D;P;P;P;D;P	0.76494	0.857;0.857;0.999;0.722;0.678;0.896;0.998;0.927	P;P;D;P;P;B;D;P	0.79108	0.811;0.789;0.992;0.714;0.57;0.446;0.923;0.665	T	0.30937	-0.9961	10	0.87932	D	0	-6.7567	5.0704	0.14604	0.0:0.661:0.2148:0.1242	.	237;237;237;237;237;237;237;237	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	V	237	ENSP00000331871:A237V;ENSP00000413849:A237V;ENSP00000339577:A237V;ENSP00000350150:A237V;ENSP00000396420:A237V;ENSP00000399640:A237V	ENSP00000331871:A237V	A	+	2	0	RHD	25500673	0.894000	0.30519	0.038000	0.18304	0.071000	0.16799	2.131000	0.42074	0.104000	0.17725	0.184000	0.17185	GCC	RHD	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	ENSG00000187010		0.557	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	HGNC	protein_coding	OTTHUMT00000009660.5		0.00	95	0	C	NM_016124		25628086	+1			no_errors	ENST00000328664	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.472	T
RMI1	80010	genome.wustl.edu	37	9	86617740	86617741	+	Nonsense_Mutation	DNP	GG	GG	AT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:86617740_86617741GG>AT	ENST00000325875.3	+	3	2171_2172	c.1839_1840GG>AT	c.(1837-1842)atGGaa>atATaa	p.613_614ME>I*		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	613					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGTTAATATGGAACACCTTGA	0.282																																																	0																																										SO:0001587	stop_gained	0			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	Exception_encountered	9.37:g.86617740_86617741delinsAT	ENSP00000317039:p.M613_E614delinsI*		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation|Nonsense_Mutation	SNP	pfam_DUF1767	p.M613I|p.E614*	ENST00000325875.3	37	c.1839|c.1840	CCDS6669.1	9																																																																																			RMI1	-	NULL	ENSG00000178966		0.282	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	-	0.00	131	0	G	NM_024945		86617740|86617741	+1	tier1	-	no_errors	ENST00000325875	ensembl	human	known	74_37	missense|nonsense	8.00|7.94	114|116	10	SNP	0.183|0.934	A|T
RMI1	80010	genome.wustl.edu	37	9	86617740	86617741	+	Nonsense_Mutation	DNP	GG	GG	AT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:86617740_86617741GG>AT	ENST00000325875.3	+	3	2171_2172	c.1839_1840GG>AT	c.(1837-1842)atGGaa>atATaa	p.613_614ME>I*		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	613					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGTTAATATGGAACACCTTGA	0.282																																																	0																																										SO:0001587	stop_gained	0			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	Exception_encountered	9.37:g.86617740_86617741delinsAT	ENSP00000317039:p.M613_E614delinsI*		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation|Nonsense_Mutation	SNP	pfam_DUF1767	p.M613I|p.E614*	ENST00000325875.3	37	c.1839|c.1840	CCDS6669.1	9																																																																																			RMI1	-	NULL	ENSG00000178966		0.282	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	-	0.00	131|98	0	G	NM_024945		86617740|86617741	+1	tier1	-	no_errors	ENST00000325875	ensembl	human	known	74_37	missense|nonsense	8.00|7.94	114|116	10	SNP	0.183|0.934	A|T
RMI1	80010	genome.wustl.edu	37	9	86617740	86617741	+	Nonsense_Mutation	DNP	GG	GG	AT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:86617740_86617741GG>AT	ENST00000325875.3	+	3	2171_2172	c.1839_1840GG>AT	c.(1837-1842)atGGaa>atATaa	p.613_614ME>I*		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	613					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGTTAATATGGAACACCTTGA	0.282																																																	0																																										SO:0001587	stop_gained	0			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	Exception_encountered	9.37:g.86617740_86617741delinsAT	ENSP00000317039:p.M613_E614delinsI*		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation|Nonsense_Mutation	SNP	pfam_DUF1767	p.M613I|p.E614*	ENST00000325875.3	37	c.1839|c.1840	CCDS6669.1	9																																																																																			RMI1	-	NULL	ENSG00000178966		0.282	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	-	0.00	96|131	0	G	NM_024945		86617740|86617741	+1	tier1	-	no_errors	ENST00000325875	ensembl	human	known	74_37	missense|nonsense	8.00|7.94	114|116	10	SNP	0.183|0.934	A|T
RMI1	80010	genome.wustl.edu	37	9	86617740	86617741	+	Nonsense_Mutation	DNP	GG	GG	AT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:86617740_86617741GG>AT	ENST00000325875.3	+	3	2171_2172	c.1839_1840GG>AT	c.(1837-1842)atGGaa>atATaa	p.613_614ME>I*		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	613					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGTTAATATGGAACACCTTGA	0.282																																																	0																																										SO:0001587	stop_gained	0			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	Exception_encountered	9.37:g.86617740_86617741delinsAT	ENSP00000317039:p.M613_E614delinsI*		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation|Nonsense_Mutation	SNP	pfam_DUF1767	p.M613I|p.E614*	ENST00000325875.3	37	c.1839|c.1840	CCDS6669.1	9																																																																																			RMI1	-	NULL	ENSG00000178966		0.282	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	-	0.00	96|98	0	G	NM_024945		86617740|86617741	+1	tier1	-	no_errors	ENST00000325875	ensembl	human	known	74_37	missense|nonsense	8.00|7.94	114|116	10	SNP	0.183|0.934	A|T
RNF169	254225	genome.wustl.edu	37	11	74546847	74546847	+	Missense_Mutation	SNP	G	G	A	rs561891285		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:74546847G>A	ENST00000299563.4	+	6	1212	c.1199G>A	c.(1198-1200)cGt>cAt	p.R400H		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	400					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CCTGATGGCCGTGTGCTAAGT	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20024	0.0		0.0	False		,,,				2504	0.001																0													152.0	157.0	155.0					11																	74546847		2008	4186	6194	SO:0001583	missense	0			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1199G>A	11.37:g.74546847G>A	ENSP00000299563:p.Arg400His		Q6N015	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R400H	ENST00000299563.4	37	c.1199	CCDS41691.1	11	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314956	0.81358	.	.	ENSG00000166439	ENST00000299563	T	0.60797	0.16	5.99	5.99	0.97316	.	0.050987	0.85682	D	0.000000	T	0.74359	0.3706	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.76727	-0.2853	10	0.87932	D	0	-21.7865	11.2648	0.49104	0.0823:0.0:0.9177:0.0	.	400	Q8NCN4	RN169_HUMAN	H	400	ENSP00000299563:R400H	ENSP00000299563:R400H	R	+	2	0	RNF169	74224495	1.000000	0.71417	0.985000	0.45067	0.999000	0.98932	5.232000	0.65332	2.847000	0.97988	0.655000	0.94253	CGT	RNF169	-	NULL	ENSG00000166439		0.498	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	HGNC	protein_coding	OTTHUMT00000384741.1		0.00	76	0	G	XM_495886		74546847	+1			no_errors	ENST00000299563	ensembl	human	known	74_37	missense	12.50	35	5	SNP	0.997	A
RNF17	56163	genome.wustl.edu	37	13	25419157	25419157	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:25419157T>G	ENST00000255324.5	+	22	3093	c.3041T>G	c.(3040-3042)cTt>cGt	p.L1014R	RNF17_ENST00000339524.3_Missense_Mutation_p.L66R|RNF17_ENST00000381921.1_Missense_Mutation_p.L1014R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1014	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTAAGAAAACTTGAAGAAAAT	0.308																																																	0													120.0	133.0	128.0					13																	25419157		2203	4300	6503	SO:0001583	missense	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3041T>G	13.37:g.25419157T>G	ENSP00000255324:p.Leu1014Arg		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.L1014R	ENST00000255324.5	37	c.3041	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	T	17.96	3.517201	0.64634	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.86	4.86	0.63082	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.64402	D	0.000007	T	0.24812	0.0602	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.01692	-1.1294	10	0.87932	D	0	-17.2121	12.0566	0.53538	0.0:0.0:0.0:1.0	.	1014;66;1014;1014	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	R	1014;1014;873;338;66	ENSP00000255324:L1014R;ENSP00000371346:L1014R;ENSP00000388892:L338R;ENSP00000344776:L66R	ENSP00000255324:L1014R	L	+	2	0	RNF17	24317157	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	4.606000	0.61126	2.038000	0.60285	0.482000	0.46254	CTT	RNF17	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000132972		0.308	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0.00	60	0	T	NM_031994		25419157	+1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	missense	21.25	63	17	SNP	0.999	G
RNF17	56163	genome.wustl.edu	37	13	25419157	25419157	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:25419157T>G	ENST00000255324.5	+	22	3093	c.3041T>G	c.(3040-3042)cTt>cGt	p.L1014R	RNF17_ENST00000339524.3_Missense_Mutation_p.L66R|RNF17_ENST00000381921.1_Missense_Mutation_p.L1014R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1014	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTAAGAAAACTTGAAGAAAAT	0.308																																																	0													120.0	133.0	128.0					13																	25419157		2203	4300	6503	SO:0001583	missense	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3041T>G	13.37:g.25419157T>G	ENSP00000255324:p.Leu1014Arg		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.L1014R	ENST00000255324.5	37	c.3041	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	T	17.96	3.517201	0.64634	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.86	4.86	0.63082	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.64402	D	0.000007	T	0.24812	0.0602	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.01692	-1.1294	10	0.87932	D	0	-17.2121	12.0566	0.53538	0.0:0.0:0.0:1.0	.	1014;66;1014;1014	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	R	1014;1014;873;338;66	ENSP00000255324:L1014R;ENSP00000371346:L1014R;ENSP00000388892:L338R;ENSP00000344776:L66R	ENSP00000255324:L1014R	L	+	2	0	RNF17	24317157	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	4.606000	0.61126	2.038000	0.60285	0.482000	0.46254	CTT	RNF17	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000132972		0.308	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0.00	96	0	T	NM_031994		25419157	+1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	missense	21.25	63	17	SNP	0.999	G
RNF20	56254	genome.wustl.edu	37	9	104314938	104314938	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:104314938A>T	ENST00000389120.3	+	13	1894	c.1804A>T	c.(1804-1806)Aaa>Taa	p.K602*	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	602					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGAGTCAGAAAAAGAGAGAGA	0.418																																																	0													80.0	86.0	84.0					9																	104314938		2203	4300	6503	SO:0001587	stop_gained	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1804A>T	9.37:g.104314938A>T	ENSP00000373772:p.Lys602*		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Nonsense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.K602*	ENST00000389120.3	37	c.1804	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	A	39	7.759646	0.98474	.	.	ENSG00000155827	ENST00000389120	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-23.7928	14.3454	0.66658	1.0:0.0:0.0:0.0	.	.	.	.	X	602	.	ENSP00000373772:K602X	K	+	1	0	RNF20	103354759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.371000	0.80710	0.533000	0.62120	AAA	RNF20	-	NULL	ENSG00000155827		0.418	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	-	0.00	44	0	A	NM_019592		104314938	+1	tier1	-	no_errors	ENST00000389120	ensembl	human	known	74_37	nonsense	20.31	51	13	SNP	1.000	T
RNF20	56254	genome.wustl.edu	37	9	104314938	104314938	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:104314938A>T	ENST00000389120.3	+	13	1894	c.1804A>T	c.(1804-1806)Aaa>Taa	p.K602*	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	602					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGAGTCAGAAAAAGAGAGAGA	0.418																																																	0													80.0	86.0	84.0					9																	104314938		2203	4300	6503	SO:0001587	stop_gained	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1804A>T	9.37:g.104314938A>T	ENSP00000373772:p.Lys602*		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Nonsense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.K602*	ENST00000389120.3	37	c.1804	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	A	39	7.759646	0.98474	.	.	ENSG00000155827	ENST00000389120	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-23.7928	14.3454	0.66658	1.0:0.0:0.0:0.0	.	.	.	.	X	602	.	ENSP00000373772:K602X	K	+	1	0	RNF20	103354759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.371000	0.80710	0.533000	0.62120	AAA	RNF20	-	NULL	ENSG00000155827		0.418	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	-	0.00	91	0	A	NM_019592		104314938	+1	tier1	-	no_errors	ENST00000389120	ensembl	human	known	74_37	nonsense	20.31	51	13	SNP	1.000	T
RNF4	6047	genome.wustl.edu	37	4	2498812	2498812	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:2498812T>G	ENST00000511600.1	+	3	1603	c.88T>G	c.(88-90)Tcc>Gcc	p.S30A	RNF4_ENST00000511843.1_3'UTR|RNF4_ENST00000506706.1_Missense_Mutation_p.S30A|RNF4_ENST00000511859.1_Missense_Mutation_p.S30A|RNF4_ENST00000541204.1_Missense_Mutation_p.S30A|RNF4_ENST00000314289.8_Missense_Mutation_p.S30A|RNF4_ENST00000509258.1_Missense_Mutation_p.S30A			P78317	RNF4_HUMAN	ring finger protein 4	30	Mediates interaction with TRPS1. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				CCCCGAGATCTCCTTGGAAGC	0.507																																																	0													58.0	58.0	58.0					4																	2498812		1902	4113	6015	SO:0001583	missense	0			U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"""RING-type (C3HC4) zinc fingers"""	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.88T>G	4.37:g.2498812T>G	ENSP00000426503:p.Ser30Ala		B2R6D6|D6RF58|Q49AR8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S30A	ENST00000511600.1	37	c.88	CCDS47001.1	4	.	.	.	.	.	.	.	.	.	.	T	7.348	0.622237	0.14193	.	.	ENSG00000063978	ENST00000504224;ENST00000314289;ENST00000536449;ENST00000541204;ENST00000502316;ENST00000507247;ENST00000509258;ENST00000511859;ENST00000506706;ENST00000511600;ENST00000513450	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.52	0.554	0.17241	.	0.462803	0.23756	N	0.044866	T	0.12263	0.0298	N	0.00760	-1.21	0.22457	N	0.999089	B;B;B	0.14438	0.01;0.001;0.0	B;B;B	0.15052	0.012;0.004;0.0	T	0.34153	-0.9840	9	.	.	.	-15.6614	9.7238	0.40320	0.1093:0.0:0.7054:0.1853	.	30;30;30	D6RF58;D6RBZ1;P78317	.;.;RNF4_HUMAN	A	30	ENSP00000315212:S30A;ENSP00000446369:S30A;ENSP00000423100:S30A;ENSP00000424076:S30A;ENSP00000426503:S30A	.	S	+	1	0	RNF4	2468610	1.000000	0.71417	0.993000	0.49108	0.331000	0.28603	1.124000	0.31320	0.153000	0.19213	0.459000	0.35465	TCC	RNF4	-	NULL	ENSG00000063978		0.507	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RNF4	HGNC	protein_coding	OTTHUMT00000360920.1	-	0.00	107	0	T	NM_002938		2498812	+1	tier1	-	no_errors	ENST00000314289	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.984	G
RNF4	6047	genome.wustl.edu	37	4	2498812	2498812	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:2498812T>G	ENST00000511600.1	+	3	1603	c.88T>G	c.(88-90)Tcc>Gcc	p.S30A	RNF4_ENST00000511843.1_3'UTR|RNF4_ENST00000506706.1_Missense_Mutation_p.S30A|RNF4_ENST00000511859.1_Missense_Mutation_p.S30A|RNF4_ENST00000541204.1_Missense_Mutation_p.S30A|RNF4_ENST00000314289.8_Missense_Mutation_p.S30A|RNF4_ENST00000509258.1_Missense_Mutation_p.S30A			P78317	RNF4_HUMAN	ring finger protein 4	30	Mediates interaction with TRPS1. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				CCCCGAGATCTCCTTGGAAGC	0.507																																																	0													58.0	58.0	58.0					4																	2498812		1902	4113	6015	SO:0001583	missense	0			U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"""RING-type (C3HC4) zinc fingers"""	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.88T>G	4.37:g.2498812T>G	ENSP00000426503:p.Ser30Ala		B2R6D6|D6RF58|Q49AR8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S30A	ENST00000511600.1	37	c.88	CCDS47001.1	4	.	.	.	.	.	.	.	.	.	.	T	7.348	0.622237	0.14193	.	.	ENSG00000063978	ENST00000504224;ENST00000314289;ENST00000536449;ENST00000541204;ENST00000502316;ENST00000507247;ENST00000509258;ENST00000511859;ENST00000506706;ENST00000511600;ENST00000513450	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.52	0.554	0.17241	.	0.462803	0.23756	N	0.044866	T	0.12263	0.0298	N	0.00760	-1.21	0.22457	N	0.999089	B;B;B	0.14438	0.01;0.001;0.0	B;B;B	0.15052	0.012;0.004;0.0	T	0.34153	-0.9840	9	.	.	.	-15.6614	9.7238	0.40320	0.1093:0.0:0.7054:0.1853	.	30;30;30	D6RF58;D6RBZ1;P78317	.;.;RNF4_HUMAN	A	30	ENSP00000315212:S30A;ENSP00000446369:S30A;ENSP00000423100:S30A;ENSP00000424076:S30A;ENSP00000426503:S30A	.	S	+	1	0	RNF4	2468610	1.000000	0.71417	0.993000	0.49108	0.331000	0.28603	1.124000	0.31320	0.153000	0.19213	0.459000	0.35465	TCC	RNF4	-	NULL	ENSG00000063978		0.507	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RNF4	HGNC	protein_coding	OTTHUMT00000360920.1	-	0.00	89	0	T	NM_002938		2498812	+1	tier1	-	no_errors	ENST00000314289	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.984	G
ROBO4	54538	genome.wustl.edu	37	11	124761567	124761567	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:124761567C>T	ENST00000306534.3	-	11	2164	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	RP11-664I21.6_ENST00000524433.1_Intron|ROBO4_ENST00000533054.1_Missense_Mutation_p.R415H	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	560					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTCACAGGAGCGACGACAGTC	0.612																																																	0													54.0	59.0	57.0					11																	124761567		2201	4299	6500	SO:0001583	missense	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1679G>A	11.37:g.124761567C>T	ENSP00000304945:p.Arg560His		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R560H	ENST00000306534.3	37	c.1679	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264297	0.59431	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.66460	-0.21;0.16	5.99	3.16	0.36331	.	0.190894	0.26279	N	0.025297	T	0.73908	0.3647	M	0.67953	2.075	0.09310	N	1	B;D;D	0.76494	0.038;0.999;0.999	B;P;P	0.62014	0.017;0.897;0.869	T	0.63256	-0.6678	10	0.39692	T	0.17	.	8.3523	0.32310	0.0:0.7577:0.0:0.2423	.	560;450;560	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	H	560;450;415	ENSP00000304945:R560H;ENSP00000437129:R415H	ENSP00000304945:R560H	R	-	2	0	ROBO4	124266777	0.050000	0.20438	0.142000	0.22268	0.784000	0.44337	0.119000	0.15626	0.441000	0.26529	-0.126000	0.14955	CGC	ROBO4	-	NULL	ENSG00000154133		0.612	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	-	0.00	66	0	C	NM_019055		124761567	-1	tier1	-	no_errors	ENST00000306534	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.077	T
RPL13A	23521	genome.wustl.edu	37	19	49994080	49994080	+	Missense_Mutation	SNP	C	C	T	rs569616137		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:49994080C>T	ENST00000391857.4	+	5	377	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	SNORD34_ENST00000365633.1_RNA|RPL13A_ENST00000477613.2_3'UTR|SNORD32A_ENST00000364805.1_RNA|SNORD35A_ENST00000363389.1_RNA|SNORD33_ENST00000362761.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	101					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CGCTCTGGACCGTCTCAAGGT	0.607																																																	0													63.0	59.0	60.0					19																	49994080		2203	4300	6503	SO:0001583	missense	0			X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.301C>T	19.37:g.49994080C>T	ENSP00000375730:p.Arg101Cys		A8K505	Missense_Mutation	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	p.R101C	ENST00000391857.4	37	c.301	CCDS12768.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349685	0.82132	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	5.91	3.68	0.42216	Ribosomal protein L13, conserved site (1);Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000001	T	0.61248	0.2332	M	0.89414	3.03	0.80722	D	1	P;P	0.43750	0.713;0.816	B;B	0.40285	0.253;0.325	T	0.68580	-0.5371	9	0.72032	D	0.01	.	8.5188	0.33262	0.1535:0.766:0.0:0.0805	.	101;101	Q5QTS3;P40429	.;RL13A_HUMAN	C	101	.	ENSP00000375730:R101C	R	+	1	0	RPL13A	54685892	0.998000	0.40836	0.999000	0.59377	0.969000	0.65631	2.275000	0.43399	1.509000	0.48786	0.655000	0.94253	CGT	RPL13A	-	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	ENSG00000142541		0.607	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL13A	HGNC	protein_coding	OTTHUMT00000258989.1	-	0.00	60	0	C			49994080	+1	tier1	-	no_errors	ENST00000391857	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.989	T
RPL13A	23521	genome.wustl.edu	37	19	49994080	49994080	+	Missense_Mutation	SNP	C	C	T	rs569616137		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:49994080C>T	ENST00000391857.4	+	5	377	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	SNORD34_ENST00000365633.1_RNA|RPL13A_ENST00000477613.2_3'UTR|SNORD32A_ENST00000364805.1_RNA|SNORD35A_ENST00000363389.1_RNA|SNORD33_ENST00000362761.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	101					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CGCTCTGGACCGTCTCAAGGT	0.607																																																	0													63.0	59.0	60.0					19																	49994080		2203	4300	6503	SO:0001583	missense	0			X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.301C>T	19.37:g.49994080C>T	ENSP00000375730:p.Arg101Cys		A8K505	Missense_Mutation	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	p.R101C	ENST00000391857.4	37	c.301	CCDS12768.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349685	0.82132	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	5.91	3.68	0.42216	Ribosomal protein L13, conserved site (1);Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000001	T	0.61248	0.2332	M	0.89414	3.03	0.80722	D	1	P;P	0.43750	0.713;0.816	B;B	0.40285	0.253;0.325	T	0.68580	-0.5371	9	0.72032	D	0.01	.	8.5188	0.33262	0.1535:0.766:0.0:0.0805	.	101;101	Q5QTS3;P40429	.;RL13A_HUMAN	C	101	.	ENSP00000375730:R101C	R	+	1	0	RPL13A	54685892	0.998000	0.40836	0.999000	0.59377	0.969000	0.65631	2.275000	0.43399	1.509000	0.48786	0.655000	0.94253	CGT	RPL13A	-	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	ENSG00000142541		0.607	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL13A	HGNC	protein_coding	OTTHUMT00000258989.1	-	0.00	66	0	C			49994080	+1	tier1	-	no_errors	ENST00000391857	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.989	T
RPS14	6208	genome.wustl.edu	37	5	149827198	149827198	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:149827198G>C	ENST00000401695.3	-	2	145	c.99C>G	c.(97-99)atC>atG	p.I33M	RPS14_ENST00000312037.5_Missense_Mutation_p.I33M|RPS14_ENST00000407193.1_Missense_Mutation_p.I33M			P62263	RS14_HUMAN	ribosomal protein S14	33					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGATGCAAAGATATGGCAGA	0.498																																																	0													123.0	112.0	115.0					5																	149827198		2203	4297	6500	SO:0001583	missense	0				CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"""S ribosomal proteins"""	10387	protein-coding gene	gene with protein product	"""emetine resistance"", ""40S ribosomal protein S14"""	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.99C>G	5.37:g.149827198G>C	ENSP00000385958:p.Ile33Met		B2R5G5|D3DQG5|P06366|Q5BJI0	Missense_Mutation	SNP	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	p.I33M	ENST00000401695.3	37	c.99	CCDS4307.1	5	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560156	0.65538	.	.	ENSG00000164587	ENST00000401695;ENST00000407193;ENST00000521466;ENST00000312037	.	.	.	5.04	1.67	0.24075	.	0.000000	0.85682	D	0.000000	D	0.86121	0.5857	H	0.97918	4.105	0.80722	D	1	P	0.42993	0.797	D	0.71184	0.972	D	0.83373	0.0008	9	0.87932	D	0	.	6.6962	0.23201	0.1739:0.0:0.6853:0.1408	.	33	P62263	RS14_HUMAN	M	33	.	ENSP00000311028:I33M	I	-	3	3	RPS14	149807391	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.372000	0.44257	0.181000	0.19994	0.557000	0.71058	ATC	RPS14	-	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	ENSG00000164587		0.498	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS14	HGNC	protein_coding	OTTHUMT00000252373.1	-	0.00	105	0	G	NM_001025071		149827198	-1	tier1	-	no_errors	ENST00000312037	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	C
RPS14	6208	genome.wustl.edu	37	5	149827198	149827198	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:149827198G>C	ENST00000401695.3	-	2	145	c.99C>G	c.(97-99)atC>atG	p.I33M	RPS14_ENST00000312037.5_Missense_Mutation_p.I33M|RPS14_ENST00000407193.1_Missense_Mutation_p.I33M			P62263	RS14_HUMAN	ribosomal protein S14	33					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGATGCAAAGATATGGCAGA	0.498																																																	0													123.0	112.0	115.0					5																	149827198		2203	4297	6500	SO:0001583	missense	0				CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"""S ribosomal proteins"""	10387	protein-coding gene	gene with protein product	"""emetine resistance"", ""40S ribosomal protein S14"""	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.99C>G	5.37:g.149827198G>C	ENSP00000385958:p.Ile33Met		B2R5G5|D3DQG5|P06366|Q5BJI0	Missense_Mutation	SNP	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	p.I33M	ENST00000401695.3	37	c.99	CCDS4307.1	5	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560156	0.65538	.	.	ENSG00000164587	ENST00000401695;ENST00000407193;ENST00000521466;ENST00000312037	.	.	.	5.04	1.67	0.24075	.	0.000000	0.85682	D	0.000000	D	0.86121	0.5857	H	0.97918	4.105	0.80722	D	1	P	0.42993	0.797	D	0.71184	0.972	D	0.83373	0.0008	9	0.87932	D	0	.	6.6962	0.23201	0.1739:0.0:0.6853:0.1408	.	33	P62263	RS14_HUMAN	M	33	.	ENSP00000311028:I33M	I	-	3	3	RPS14	149807391	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.372000	0.44257	0.181000	0.19994	0.557000	0.71058	ATC	RPS14	-	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	ENSG00000164587		0.498	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS14	HGNC	protein_coding	OTTHUMT00000252373.1	-	0.00	60	0	G	NM_001025071		149827198	-1	tier1	-	no_errors	ENST00000312037	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	C
RRH	10692	genome.wustl.edu	37	4	110756540	110756541	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:110756540_110756541insT	ENST00000317735.4	+	3	350_351	c.316_317insT	c.(316-318)attfs	p.I106fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	106					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TGGATTGAATATTTTTTTTGGA	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.324dupT	4.37:g.110756548_110756548dupT	ENSP00000314992:p.Ile106fs		A1A4V2|Q7RTS4	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn	p.G109fs	ENST00000317735.4	37	c.316_317	CCDS3687.1	4																																																																																			RRH	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn	ENSG00000180245		0.391	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRH	HGNC	protein_coding	OTTHUMT00000255066.1		0.00	59	0	-	NM_006583		110756541	+1	tier1		no_errors	ENST00000317735	ensembl	human	known	74_37	frame_shift_ins	5.56	34	2	INS	1.000:1.000	T
RRH	10692	genome.wustl.edu	37	4	110756540	110756541	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:110756540_110756541insT	ENST00000317735.4	+	3	350_351	c.316_317insT	c.(316-318)attfs	p.I106fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	106					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TGGATTGAATATTTTTTTTGGA	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.324dupT	4.37:g.110756548_110756548dupT	ENSP00000314992:p.Ile106fs		A1A4V2|Q7RTS4	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn	p.G109fs	ENST00000317735.4	37	c.316_317	CCDS3687.1	4																																																																																			RRH	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn	ENSG00000180245		0.391	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRH	HGNC	protein_coding	OTTHUMT00000255066.1		0.00	67	0	-	NM_006583		110756541	+1	tier1		no_errors	ENST00000317735	ensembl	human	known	74_37	frame_shift_ins	5.56	34	2	INS	1.000:1.000	T
RSBN1	54665	genome.wustl.edu	37	1	114308744	114308744	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:114308744G>T	ENST00000261441.5	-	7	2330	c.2267C>A	c.(2266-2268)gCt>gAt	p.A756D	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	756						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATGATGAAGCAGTTGTTAA	0.408																																																	0													212.0	197.0	202.0					1																	114308744		2203	4300	6503	SO:0001583	missense	0			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2267C>A	1.37:g.114308744G>T	ENSP00000261441:p.Ala756Asp		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.A756D	ENST00000261441.5	37	c.2267	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363960	0.41902	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.71	5.71	0.89125	.	0.409391	0.25744	N	0.028587	T	0.42154	0.1190	L	0.40543	1.245	0.36830	D	0.886857	B	0.13594	0.008	B	0.12156	0.007	T	0.39440	-0.9614	9	0.49607	T	0.09	-3.3682	15.3706	0.74560	0.0:0.0:0.86:0.14	.	756	Q5VWQ0	RSBN1_HUMAN	D	756	.	ENSP00000261441:A756D	A	-	2	0	RSBN1	114110267	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.566000	0.60843	2.695000	0.91970	0.563000	0.77884	GCT	RSBN1	-	NULL	ENSG00000081019		0.408	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	-	0.00	67	0	G	NM_018364		114308744	-1	tier1	-	no_errors	ENST00000261441	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
RSBN1	54665	genome.wustl.edu	37	1	114308744	114308744	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:114308744G>T	ENST00000261441.5	-	7	2330	c.2267C>A	c.(2266-2268)gCt>gAt	p.A756D	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	756						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATGATGAAGCAGTTGTTAA	0.408																																																	0													212.0	197.0	202.0					1																	114308744		2203	4300	6503	SO:0001583	missense	0			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2267C>A	1.37:g.114308744G>T	ENSP00000261441:p.Ala756Asp		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.A756D	ENST00000261441.5	37	c.2267	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363960	0.41902	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.71	5.71	0.89125	.	0.409391	0.25744	N	0.028587	T	0.42154	0.1190	L	0.40543	1.245	0.36830	D	0.886857	B	0.13594	0.008	B	0.12156	0.007	T	0.39440	-0.9614	9	0.49607	T	0.09	-3.3682	15.3706	0.74560	0.0:0.0:0.86:0.14	.	756	Q5VWQ0	RSBN1_HUMAN	D	756	.	ENSP00000261441:A756D	A	-	2	0	RSBN1	114110267	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.566000	0.60843	2.695000	0.91970	0.563000	0.77884	GCT	RSBN1	-	NULL	ENSG00000081019		0.408	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	-	0.00	82	0	G	NM_018364		114308744	-1	tier1	-	no_errors	ENST00000261441	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
RSPO2	340419	genome.wustl.edu	37	8	109094778	109094778	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:109094778T>C	ENST00000276659.5	-	2	709	c.89A>G	c.(88-90)aAg>aGg	p.K30R	RSPO2_ENST00000378439.2_Missense_Mutation_p.K30R|RSPO2_ENST00000517781.1_Missense_Mutation_p.K30R|RSPO2_ENST00000517939.1_5'Flank	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	30					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCACCTCGCTTACTGCGTCT	0.612																																																	0													109.0	93.0	98.0					8																	109094778		2203	4300	6503	SO:0001583	missense	0			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.89A>G	8.37:g.109094778T>C	ENSP00000276659:p.Lys30Arg		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.K30R	ENST00000276659.5	37	c.89	CCDS6307.1	8	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427117	0.62733	.	.	ENSG00000147655	ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521956;ENST00000522333	T;T;T;T;T	0.80824	-0.62;-0.62;-1.42;-0.0;-1.42	5.57	5.57	0.84162	Growth factor, receptor (1);	0.488201	0.19558	N	0.111399	T	0.80854	0.4703	N	0.25647	0.755	0.34176	D	0.670382	D;D	0.67145	0.996;0.996	D;D	0.73708	0.981;0.981	T	0.76005	-0.3117	10	0.02654	T	1	-0.6369	15.396	0.74794	0.0:0.0:0.0:1.0	.	30;30	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	R	30	ENSP00000427937:K30R;ENSP00000367698:K30R;ENSP00000276659:K30R;ENSP00000430010:K30R;ENSP00000430973:K30R	ENSP00000276659:K30R	K	-	2	0	RSPO2	109163954	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.189000	0.65098	2.118000	0.64928	0.482000	0.46254	AAG	RSPO2	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000147655		0.612	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO2	HGNC	protein_coding	OTTHUMT00000380830.1	-	0.00	66	0	T	NM_178565		109094778	-1	tier1	-	no_errors	ENST00000276659	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	C
RSPO2	340419	genome.wustl.edu	37	8	109094778	109094778	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:109094778T>C	ENST00000276659.5	-	2	709	c.89A>G	c.(88-90)aAg>aGg	p.K30R	RSPO2_ENST00000378439.2_Missense_Mutation_p.K30R|RSPO2_ENST00000517781.1_Missense_Mutation_p.K30R|RSPO2_ENST00000517939.1_5'Flank	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	30					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCACCTCGCTTACTGCGTCT	0.612																																																	0													109.0	93.0	98.0					8																	109094778		2203	4300	6503	SO:0001583	missense	0			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.89A>G	8.37:g.109094778T>C	ENSP00000276659:p.Lys30Arg		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.K30R	ENST00000276659.5	37	c.89	CCDS6307.1	8	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427117	0.62733	.	.	ENSG00000147655	ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521956;ENST00000522333	T;T;T;T;T	0.80824	-0.62;-0.62;-1.42;-0.0;-1.42	5.57	5.57	0.84162	Growth factor, receptor (1);	0.488201	0.19558	N	0.111399	T	0.80854	0.4703	N	0.25647	0.755	0.34176	D	0.670382	D;D	0.67145	0.996;0.996	D;D	0.73708	0.981;0.981	T	0.76005	-0.3117	10	0.02654	T	1	-0.6369	15.396	0.74794	0.0:0.0:0.0:1.0	.	30;30	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	R	30	ENSP00000427937:K30R;ENSP00000367698:K30R;ENSP00000276659:K30R;ENSP00000430010:K30R;ENSP00000430973:K30R	ENSP00000276659:K30R	K	-	2	0	RSPO2	109163954	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.189000	0.65098	2.118000	0.64928	0.482000	0.46254	AAG	RSPO2	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000147655		0.612	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO2	HGNC	protein_coding	OTTHUMT00000380830.1	-	0.00	78	0	T	NM_178565		109094778	-1	tier1	-	no_errors	ENST00000276659	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	C
RTF1	23168	genome.wustl.edu	37	15	41771390	41771390	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:41771390G>C	ENST00000389629.4	+	16	1920	c.1908G>C	c.(1906-1908)atG>atC	p.M636I		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	636					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAAAGGAAATGAGCAAGGCAA	0.507																																																	0													88.0	83.0	84.0					15																	41771390		2203	4300	6503	SO:0001583	missense	0			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1908G>C	15.37:g.41771390G>C	ENSP00000374280:p.Met636Ile		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.M636I	ENST00000389629.4	37	c.1908	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210855	0.39102	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.47	5.47	0.80525	.	0.315484	0.41500	D	0.000875	T	0.39064	0.1064	N	0.14661	0.345	0.38543	D	0.949268	B	0.02656	0.0	B	0.01281	0.0	T	0.31833	-0.9929	9	0.37606	T	0.19	-17.0344	10.8226	0.46614	0.1462:0.0:0.8538:0.0	.	636	Q92541	RTF1_HUMAN	I	636	.	ENSP00000374280:M636I	M	+	3	0	RTF1	39558682	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.739000	0.38217	2.574000	0.86865	0.563000	0.77884	ATG	RTF1	-	NULL	ENSG00000137815		0.507	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	-	0.00	43	0	G	NM_015138		41771390	+1	tier1	-	no_errors	ENST00000389629	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C
RTF1	23168	genome.wustl.edu	37	15	41771390	41771390	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:41771390G>C	ENST00000389629.4	+	16	1920	c.1908G>C	c.(1906-1908)atG>atC	p.M636I		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	636					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAAAGGAAATGAGCAAGGCAA	0.507																																																	0													88.0	83.0	84.0					15																	41771390		2203	4300	6503	SO:0001583	missense	0			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1908G>C	15.37:g.41771390G>C	ENSP00000374280:p.Met636Ile		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.M636I	ENST00000389629.4	37	c.1908	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210855	0.39102	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.47	5.47	0.80525	.	0.315484	0.41500	D	0.000875	T	0.39064	0.1064	N	0.14661	0.345	0.38543	D	0.949268	B	0.02656	0.0	B	0.01281	0.0	T	0.31833	-0.9929	9	0.37606	T	0.19	-17.0344	10.8226	0.46614	0.1462:0.0:0.8538:0.0	.	636	Q92541	RTF1_HUMAN	I	636	.	ENSP00000374280:M636I	M	+	3	0	RTF1	39558682	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.739000	0.38217	2.574000	0.86865	0.563000	0.77884	ATG	RTF1	-	NULL	ENSG00000137815		0.507	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	-	0.00	63	0	G	NM_015138		41771390	+1	tier1	-	no_errors	ENST00000389629	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C
RUNDC3B	154661	genome.wustl.edu	37	7	87280172	87280172	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:87280172T>C	ENST00000338056.3	+	2	568	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.F53L|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.F53L	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	53										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TCGGTCTTGCTTTGAGACAAT	0.343																																																	0													86.0	83.0	84.0					7																	87280172		2203	4300	6503	SO:0001583	missense	0				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.157T>C	7.37:g.87280172T>C	ENSP00000337732:p.Phe53Leu		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.F53L	ENST00000338056.3	37	c.157	CCDS5609.1	7	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795773	0.31777	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.10763	2.84;2.84;2.84	5.07	5.07	0.68467	.	0.105480	0.64402	D	0.000004	T	0.10594	0.0259	L	0.27053	0.805	0.51012	D	0.999903	P;P;P;B	0.41450	0.622;0.622;0.75;0.059	B;B;B;B	0.42030	0.112;0.112;0.373;0.046	T	0.10109	-1.0644	10	0.48119	T	0.1	-13.0355	14.0907	0.64987	0.0:0.0:0.0:1.0	.	53;53;53;53	E9PBR4;B4DFD0;Q96NL0-4;Q96NL0	.;.;.;RUN3B_HUMAN	L	53	ENSP00000337732:F53L;ENSP00000420394:F53L;ENSP00000378149:F53L	ENSP00000337732:F53L	F	+	1	0	RUNDC3B	87118108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.794000	0.69067	2.023000	0.59567	0.477000	0.44152	TTT	RUNDC3B	-	NULL	ENSG00000105784		0.343	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	RUNDC3B	HGNC	protein_coding	OTTHUMT00000253679.1	-	0.00	28	0	T	NM_138290		87280172	+1	tier1	-	no_errors	ENST00000338056	ensembl	human	known	74_37	missense	23.17	63	19	SNP	1.000	C
RUNDC3B	154661	genome.wustl.edu	37	7	87280172	87280172	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:87280172T>C	ENST00000338056.3	+	2	568	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.F53L|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.F53L	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	53										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TCGGTCTTGCTTTGAGACAAT	0.343																																																	0													86.0	83.0	84.0					7																	87280172		2203	4300	6503	SO:0001583	missense	0				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.157T>C	7.37:g.87280172T>C	ENSP00000337732:p.Phe53Leu		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.F53L	ENST00000338056.3	37	c.157	CCDS5609.1	7	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795773	0.31777	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.10763	2.84;2.84;2.84	5.07	5.07	0.68467	.	0.105480	0.64402	D	0.000004	T	0.10594	0.0259	L	0.27053	0.805	0.51012	D	0.999903	P;P;P;B	0.41450	0.622;0.622;0.75;0.059	B;B;B;B	0.42030	0.112;0.112;0.373;0.046	T	0.10109	-1.0644	10	0.48119	T	0.1	-13.0355	14.0907	0.64987	0.0:0.0:0.0:1.0	.	53;53;53;53	E9PBR4;B4DFD0;Q96NL0-4;Q96NL0	.;.;.;RUN3B_HUMAN	L	53	ENSP00000337732:F53L;ENSP00000420394:F53L;ENSP00000378149:F53L	ENSP00000337732:F53L	F	+	1	0	RUNDC3B	87118108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.794000	0.69067	2.023000	0.59567	0.477000	0.44152	TTT	RUNDC3B	-	NULL	ENSG00000105784		0.343	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	RUNDC3B	HGNC	protein_coding	OTTHUMT00000253679.1	-	0.00	63	0	T	NM_138290		87280172	+1	tier1	-	no_errors	ENST00000338056	ensembl	human	known	74_37	missense	23.17	63	19	SNP	1.000	C
RYR2	6262	genome.wustl.edu	37	1	237794767	237794767	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:237794767C>A	ENST00000366574.2	+	42	6798	c.6481C>A	c.(6481-6483)Ctc>Atc	p.L2161I	RYR2_ENST00000360064.6_Missense_Mutation_p.L2159I|RYR2_ENST00000542537.1_Missense_Mutation_p.L2145I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2161	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACCCTAATCTCATGAGGGC	0.453																																																	0													102.0	105.0	104.0					1																	237794767		2004	4218	6222	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6481C>A	1.37:g.237794767C>A	ENSP00000355533:p.Leu2161Ile		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L2159I	ENST00000366574.2	37	c.6475	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684574	0.88639	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.99369	-5.78;-5.78;-5.78	5.43	5.43	0.79202	Intracellular calcium-release channel (1);	0.000000	0.53938	D	0.000044	D	0.99405	0.9790	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99301	1.0901	10	0.87932	D	0	-11.3018	19.6027	0.95569	0.0:1.0:0.0:0.0	.	2161	Q92736	RYR2_HUMAN	I	2161;2159;2145	ENSP00000355533:L2161I;ENSP00000353174:L2159I;ENSP00000443798:L2145I	ENSP00000353174:L2159I	L	+	1	0	RYR2	235861390	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.720000	0.47252	2.703000	0.92315	0.650000	0.86243	CTC	RYR2	-	pfam_Ca-rel_channel	ENSG00000198626		0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	102	0	C	NM_001035		237794767	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	31.33	57	26	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237794767	237794767	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:237794767C>A	ENST00000366574.2	+	42	6798	c.6481C>A	c.(6481-6483)Ctc>Atc	p.L2161I	RYR2_ENST00000360064.6_Missense_Mutation_p.L2159I|RYR2_ENST00000542537.1_Missense_Mutation_p.L2145I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2161	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACCCTAATCTCATGAGGGC	0.453																																																	0													102.0	105.0	104.0					1																	237794767		2004	4218	6222	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6481C>A	1.37:g.237794767C>A	ENSP00000355533:p.Leu2161Ile		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L2159I	ENST00000366574.2	37	c.6475	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684574	0.88639	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.99369	-5.78;-5.78;-5.78	5.43	5.43	0.79202	Intracellular calcium-release channel (1);	0.000000	0.53938	D	0.000044	D	0.99405	0.9790	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99301	1.0901	10	0.87932	D	0	-11.3018	19.6027	0.95569	0.0:1.0:0.0:0.0	.	2161	Q92736	RYR2_HUMAN	I	2161;2159;2145	ENSP00000355533:L2161I;ENSP00000353174:L2159I;ENSP00000443798:L2145I	ENSP00000353174:L2159I	L	+	1	0	RYR2	235861390	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.720000	0.47252	2.703000	0.92315	0.650000	0.86243	CTC	RYR2	-	pfam_Ca-rel_channel	ENSG00000198626		0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	90	0	C	NM_001035		237794767	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	31.33	57	26	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	34110884	34110884	+	Splice_Site	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:34110884A>G	ENST00000389232.4	+	76	10775	c.10705A>G	c.(10705-10707)Agc>Ggc	p.S3569G	RYR3_ENST00000415757.3_Splice_Site_p.S3564G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3569					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACGGAGAGGAGGTCAGAACC	0.527																																																	0													80.0	85.0	83.0					15																	34110884		2073	4204	6277	SO:0001630	splice_region_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10706+1A>G	15.37:g.34110884A>G			O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S3569G	ENST00000389232.4	37	c.10705	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984936	0.74474	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.96967	-4.19	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	L	0.59436	1.845	0.46542	D	0.999099	D;D	0.67145	0.996;0.991	P;P	0.60473	0.875;0.837	D	0.95648	0.8704	10	0.25751	T	0.34	.	14.8455	0.70257	1.0:0.0:0.0:0.0	.	3564;3569	Q15413-2;Q15413	.;RYR3_HUMAN	G	3569;3568;3564	ENSP00000373884:S3569G	ENSP00000354735:S3564G	S	+	1	0	RYR3	31898176	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.713000	0.74686	2.096000	0.63516	0.533000	0.62120	AGC	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	37	0	A		Missense_Mutation	34110884	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	12.12	28	4	SNP	1.000	G
RYR3	6263	genome.wustl.edu	37	15	34110884	34110884	+	Splice_Site	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:34110884A>G	ENST00000389232.4	+	76	10775	c.10705A>G	c.(10705-10707)Agc>Ggc	p.S3569G	RYR3_ENST00000415757.3_Splice_Site_p.S3564G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3569					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACGGAGAGGAGGTCAGAACC	0.527																																																	0													80.0	85.0	83.0					15																	34110884		2073	4204	6277	SO:0001630	splice_region_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10706+1A>G	15.37:g.34110884A>G			O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S3569G	ENST00000389232.4	37	c.10705	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984936	0.74474	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.96967	-4.19	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	L	0.59436	1.845	0.46542	D	0.999099	D;D	0.67145	0.996;0.991	P;P	0.60473	0.875;0.837	D	0.95648	0.8704	10	0.25751	T	0.34	.	14.8455	0.70257	1.0:0.0:0.0:0.0	.	3564;3569	Q15413-2;Q15413	.;RYR3_HUMAN	G	3569;3568;3564	ENSP00000373884:S3569G	ENSP00000354735:S3564G	S	+	1	0	RYR3	31898176	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.713000	0.74686	2.096000	0.63516	0.533000	0.62120	AGC	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	53	0	A		Missense_Mutation	34110884	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	12.12	28	4	SNP	1.000	G
SAG	6295	genome.wustl.edu	37	2	234235800	234235800	+	Missense_Mutation	SNP	G	G	A	rs201283305		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:234235800G>A	ENST00000409110.1	+	7	699	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	SAG_ENST00000449594.2_Missense_Mutation_p.A23T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	157					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CAAAGCATTCGCCACAGACAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20140	0.001		0.0	False		,,,				2504	0.0																0								G	THR/ALA	0,4158		0,0,2079	119.0	121.0	120.0		469	4.0	0.1	2		120	1,8433		0,1,4216	yes	missense	SAG	NM_000541.4	58	0,1,6295	AA,AG,GG		0.0119,0.0,0.0079	benign	157/406	234235800	1,12591	2079	4217	6296	SO:0001583	missense	0				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.469G>A	2.37:g.234235800G>A	ENSP00000386444:p.Ala157Thr		A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.A157T	ENST00000409110.1	37	c.469	CCDS46545.1	2	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802254	0.31869	0.0	1.19E-4	ENSG00000130561	ENST00000252857;ENST00000447536;ENST00000409110;ENST00000449594	T;T;T	0.17213	2.56;2.56;2.29	3.96	3.96	0.45880	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.327480	0.36409	N	0.002601	T	0.16085	0.0387	L	0.38531	1.155	0.20821	N	0.999849	D;D	0.60575	0.986;0.988	B;P	0.45577	0.329;0.486	T	0.08973	-1.0696	10	0.46703	T	0.11	-30.7478	11.0952	0.48141	0.0:0.0:0.8017:0.1983	.	23;157	B7Z7L5;P10523	.;ARRS_HUMAN	T	157;157;157;23	ENSP00000408937:A157T;ENSP00000386444:A157T;ENSP00000392889:A23T	ENSP00000252857:A157T	A	+	1	0	SAG	233900539	0.983000	0.35010	0.070000	0.20053	0.076000	0.17211	1.982000	0.40638	2.204000	0.70986	0.555000	0.69702	GCC	SAG	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000130561		0.587	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	HGNC	protein_coding	OTTHUMT00000330126.1	-	0.00	52	0	G	NM_000541		234235800	+1	tier1	rs201283305	no_errors	ENST00000409110	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.258	A
SAG	6295	genome.wustl.edu	37	2	234235800	234235800	+	Missense_Mutation	SNP	G	G	A	rs201283305		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:234235800G>A	ENST00000409110.1	+	7	699	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	SAG_ENST00000449594.2_Missense_Mutation_p.A23T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	157					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CAAAGCATTCGCCACAGACAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20140	0.001		0.0	False		,,,				2504	0.0																0								G	THR/ALA	0,4158		0,0,2079	119.0	121.0	120.0		469	4.0	0.1	2		120	1,8433		0,1,4216	yes	missense	SAG	NM_000541.4	58	0,1,6295	AA,AG,GG		0.0119,0.0,0.0079	benign	157/406	234235800	1,12591	2079	4217	6296	SO:0001583	missense	0				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.469G>A	2.37:g.234235800G>A	ENSP00000386444:p.Ala157Thr		A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.A157T	ENST00000409110.1	37	c.469	CCDS46545.1	2	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802254	0.31869	0.0	1.19E-4	ENSG00000130561	ENST00000252857;ENST00000447536;ENST00000409110;ENST00000449594	T;T;T	0.17213	2.56;2.56;2.29	3.96	3.96	0.45880	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.327480	0.36409	N	0.002601	T	0.16085	0.0387	L	0.38531	1.155	0.20821	N	0.999849	D;D	0.60575	0.986;0.988	B;P	0.45577	0.329;0.486	T	0.08973	-1.0696	10	0.46703	T	0.11	-30.7478	11.0952	0.48141	0.0:0.0:0.8017:0.1983	.	23;157	B7Z7L5;P10523	.;ARRS_HUMAN	T	157;157;157;23	ENSP00000408937:A157T;ENSP00000386444:A157T;ENSP00000392889:A23T	ENSP00000252857:A157T	A	+	1	0	SAG	233900539	0.983000	0.35010	0.070000	0.20053	0.076000	0.17211	1.982000	0.40638	2.204000	0.70986	0.555000	0.69702	GCC	SAG	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000130561		0.587	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	HGNC	protein_coding	OTTHUMT00000330126.1	-	0.00	66	0	G	NM_000541		234235800	+1	tier1	rs201283305	no_errors	ENST00000409110	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.258	A
SAMM50	25813	genome.wustl.edu	37	22	44364657	44364657	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:44364657G>A	ENST00000350028.4	+	4	438	c.281G>A	c.(280-282)gGa>gAa	p.G94E	SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	94					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTCCGTCTTGGAATTTTTAGA	0.363																																																	0													121.0	126.0	124.0					22																	44364657		2203	4300	6503	SO:0001583	missense	0			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.281G>A	22.37:g.44364657G>A	ENSP00000345445:p.Gly94Glu		Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	pfam_Bac_surfAg_D15	p.G94E	ENST00000350028.4	37	c.281	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228631	0.79576	.	.	ENSG00000100347	ENST00000350028	T	0.48836	0.8	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73799	-0.3869	10	0.87932	D	0	-28.6701	17.478	0.87666	0.0:0.0:1.0:0.0	.	94	Q9Y512	SAM50_HUMAN	E	94	ENSP00000345445:G94E	ENSP00000345445:G94E	G	+	2	0	SAMM50	42695990	1.000000	0.71417	0.264000	0.24511	0.789000	0.44602	8.813000	0.91963	2.436000	0.82500	0.563000	0.77884	GGA	SAMM50	-	NULL	ENSG00000100347		0.363	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2	-	0.00	37	0	G	NM_015380		44364657	+1	tier1	-	no_errors	ENST00000350028	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.997	A
SAMM50	25813	genome.wustl.edu	37	22	44364657	44364657	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:44364657G>A	ENST00000350028.4	+	4	438	c.281G>A	c.(280-282)gGa>gAa	p.G94E	SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	94					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTCCGTCTTGGAATTTTTAGA	0.363																																																	0													121.0	126.0	124.0					22																	44364657		2203	4300	6503	SO:0001583	missense	0			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.281G>A	22.37:g.44364657G>A	ENSP00000345445:p.Gly94Glu		Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	pfam_Bac_surfAg_D15	p.G94E	ENST00000350028.4	37	c.281	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228631	0.79576	.	.	ENSG00000100347	ENST00000350028	T	0.48836	0.8	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73799	-0.3869	10	0.87932	D	0	-28.6701	17.478	0.87666	0.0:0.0:1.0:0.0	.	94	Q9Y512	SAM50_HUMAN	E	94	ENSP00000345445:G94E	ENSP00000345445:G94E	G	+	2	0	SAMM50	42695990	1.000000	0.71417	0.264000	0.24511	0.789000	0.44602	8.813000	0.91963	2.436000	0.82500	0.563000	0.77884	GGA	SAMM50	-	NULL	ENSG00000100347		0.363	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2	-	0.00	55	0	G	NM_015380		44364657	+1	tier1	-	no_errors	ENST00000350028	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.997	A
ZBED9	114821	genome.wustl.edu	37	6	28540334	28540334	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:28540334A>C	ENST00000452236.2	-	4	3949	c.3332T>G	c.(3331-3333)aTt>aGt	p.I1111S		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atcattaaaaatactgaagat	0.358																																																	0													59.0	62.0	61.0					6																	28540334		2196	4293	6489	SO:0001583	missense	0																														ENST00000452236.2:c.3332T>G	6.37:g.28540334A>C	ENSP00000395259:p.Ile1111Ser			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.I1111S	ENST00000452236.2	37	c.3332	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	A	9.016	0.983648	0.18889	.	.	ENSG00000232040	ENST00000452236	T	0.21191	2.02	2.53	2.53	0.30540	Ribonuclease H-like (1);	1.847310	0.03664	N	0.243048	T	0.16385	0.0394	L	0.29908	0.895	0.29588	N	0.84865	D	0.58970	0.984	D	0.70487	0.969	T	0.22906	-1.0203	10	0.22109	T	0.4	.	6.9733	0.24660	1.0:0.0:0.0:0.0	.	1111	Q6R2W3	SCND3_HUMAN	S	1111	ENSP00000395259:I1111S	ENSP00000395259:I1111S	I	-	2	0	SCAND3	28648313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.260000	0.43267	1.405000	0.46838	0.533000	0.62120	ATT	SCAND3	-	superfamily_RNaseH-like_dom	ENSG00000232040		0.358	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	-	0.00	38	0	A			28540334	-1	tier1	-	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	C
ZBED9	114821	genome.wustl.edu	37	6	28540334	28540334	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:28540334A>C	ENST00000452236.2	-	4	3949	c.3332T>G	c.(3331-3333)aTt>aGt	p.I1111S		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atcattaaaaatactgaagat	0.358																																																	0													59.0	62.0	61.0					6																	28540334		2196	4293	6489	SO:0001583	missense	0																														ENST00000452236.2:c.3332T>G	6.37:g.28540334A>C	ENSP00000395259:p.Ile1111Ser			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.I1111S	ENST00000452236.2	37	c.3332	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	A	9.016	0.983648	0.18889	.	.	ENSG00000232040	ENST00000452236	T	0.21191	2.02	2.53	2.53	0.30540	Ribonuclease H-like (1);	1.847310	0.03664	N	0.243048	T	0.16385	0.0394	L	0.29908	0.895	0.29588	N	0.84865	D	0.58970	0.984	D	0.70487	0.969	T	0.22906	-1.0203	10	0.22109	T	0.4	.	6.9733	0.24660	1.0:0.0:0.0:0.0	.	1111	Q6R2W3	SCND3_HUMAN	S	1111	ENSP00000395259:I1111S	ENSP00000395259:I1111S	I	-	2	0	SCAND3	28648313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.260000	0.43267	1.405000	0.46838	0.533000	0.62120	ATT	SCAND3	-	superfamily_RNaseH-like_dom	ENSG00000232040		0.358	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	-	0.00	72	0	A			28540334	-1	tier1	-	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	C
SCN5A	6331	genome.wustl.edu	37	3	38591997	38591997	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:38591997A>C	ENST00000333535.4	-	28	6015	c.5866T>G	c.(5866-5868)Ttc>Gtc	p.F1956V	SCN5A_ENST00000449557.2_Missense_Mutation_p.F1902V|SCN5A_ENST00000455624.2_Missense_Mutation_p.F1923V|SCN5A_ENST00000413689.1_Missense_Mutation_p.F1956V|SCN5A_ENST00000423572.2_Missense_Mutation_p.F1955V|SCN5A_ENST00000451551.2_Missense_Mutation_p.F1902V|SCN5A_ENST00000425664.1_Missense_Mutation_p.F1938V|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Missense_Mutation_p.F1902V|SCN5A_ENST00000443581.1_Missense_Mutation_p.F1955V|SCN5A_ENST00000414099.2_Missense_Mutation_p.F1938V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1956					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTCGGGAGAAGTTCTCACTC	0.617																																																	0													35.0	43.0	41.0					3																	38591997		2082	4196	6278	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5866T>G	3.37:g.38591997A>C	ENSP00000328968:p.Phe1956Val		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.F1956V	ENST00000333535.4	37	c.5866	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665452	0.47677	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95622	-3.67;-3.7;-3.69;-3.7;-3.7;-3.67;-3.7;-3.76;-3.7;-3.7	4.95	4.95	0.65309	.	0.529472	0.19567	N	0.111197	D	0.82641	0.5081	N	0.00729	-1.24	0.42212	D	0.991814	B;P;B;B;B;B	0.38922	0.354;0.651;0.07;0.243;0.336;0.108	B;B;B;B;B;B	0.32465	0.09;0.115;0.057;0.09;0.146;0.089	D	0.85249	0.1043	10	0.20046	T	0.44	.	14.7759	0.69732	1.0:0.0:0.0:0.0	.	1902;1923;1938;1956;1955;1956	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	V	1938;1955;1956;1902;1955;1938;1956;1923;1902;1902	ENSP00000398962:F1938V;ENSP00000398266:F1955V;ENSP00000410257:F1956V;ENSP00000388797:F1902V;ENSP00000397915:F1955V;ENSP00000416634:F1938V;ENSP00000328968:F1956V;ENSP00000399524:F1923V;ENSP00000403355:F1902V;ENSP00000413996:F1902V	ENSP00000328968:F1956V	F	-	1	0	SCN5A	38567001	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.509000	0.81698	2.080000	0.62538	0.533000	0.62120	TTC	SCN5A	-	NULL	ENSG00000183873		0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0.00	31	0	A	NM_198056		38591997	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	44.44	10	8	SNP	1.000	C
SCN5A	6331	genome.wustl.edu	37	3	38591997	38591997	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:38591997A>C	ENST00000333535.4	-	28	6015	c.5866T>G	c.(5866-5868)Ttc>Gtc	p.F1956V	SCN5A_ENST00000449557.2_Missense_Mutation_p.F1902V|SCN5A_ENST00000455624.2_Missense_Mutation_p.F1923V|SCN5A_ENST00000413689.1_Missense_Mutation_p.F1956V|SCN5A_ENST00000423572.2_Missense_Mutation_p.F1955V|SCN5A_ENST00000451551.2_Missense_Mutation_p.F1902V|SCN5A_ENST00000425664.1_Missense_Mutation_p.F1938V|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Missense_Mutation_p.F1902V|SCN5A_ENST00000443581.1_Missense_Mutation_p.F1955V|SCN5A_ENST00000414099.2_Missense_Mutation_p.F1938V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1956					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTCGGGAGAAGTTCTCACTC	0.617																																																	0													35.0	43.0	41.0					3																	38591997		2082	4196	6278	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5866T>G	3.37:g.38591997A>C	ENSP00000328968:p.Phe1956Val		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.F1956V	ENST00000333535.4	37	c.5866	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665452	0.47677	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95622	-3.67;-3.7;-3.69;-3.7;-3.7;-3.67;-3.7;-3.76;-3.7;-3.7	4.95	4.95	0.65309	.	0.529472	0.19567	N	0.111197	D	0.82641	0.5081	N	0.00729	-1.24	0.42212	D	0.991814	B;P;B;B;B;B	0.38922	0.354;0.651;0.07;0.243;0.336;0.108	B;B;B;B;B;B	0.32465	0.09;0.115;0.057;0.09;0.146;0.089	D	0.85249	0.1043	10	0.20046	T	0.44	.	14.7759	0.69732	1.0:0.0:0.0:0.0	.	1902;1923;1938;1956;1955;1956	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	V	1938;1955;1956;1902;1955;1938;1956;1923;1902;1902	ENSP00000398962:F1938V;ENSP00000398266:F1955V;ENSP00000410257:F1956V;ENSP00000388797:F1902V;ENSP00000397915:F1955V;ENSP00000416634:F1938V;ENSP00000328968:F1956V;ENSP00000399524:F1923V;ENSP00000403355:F1902V;ENSP00000413996:F1902V	ENSP00000328968:F1956V	F	-	1	0	SCN5A	38567001	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.509000	0.81698	2.080000	0.62538	0.533000	0.62120	TTC	SCN5A	-	NULL	ENSG00000183873		0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0.00	40	0	A	NM_198056		38591997	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	44.44	10	8	SNP	1.000	C
SCN11A	11280	genome.wustl.edu	37	3	38913761	38913761	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:38913761A>G	ENST00000302328.3	-	20	3616	c.3418T>C	c.(3418-3420)Tta>Cta	p.L1140L	SCN11A_ENST00000444237.2_Silent_p.L1140L|SCN11A_ENST00000456224.3_Silent_p.L1102L|SCN11A_ENST00000450244.1_Silent_p.L1140L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1140					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATTCCATTAAGTTAATGAGG	0.478																																																	0													106.0	103.0	104.0					3																	38913761		2203	4300	6503	SO:0001819	synonymous_variant	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3418T>C	3.37:g.38913761A>G			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L1140	ENST00000302328.3	37	c.3418	CCDS33737.1	3																																																																																			SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.478	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0.00	61	0	A	NM_014139		38913761	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	silent	19.05	34	8	SNP	0.000	G
SCN11A	11280	genome.wustl.edu	37	3	38913761	38913761	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:38913761A>G	ENST00000302328.3	-	20	3616	c.3418T>C	c.(3418-3420)Tta>Cta	p.L1140L	SCN11A_ENST00000444237.2_Silent_p.L1140L|SCN11A_ENST00000456224.3_Silent_p.L1102L|SCN11A_ENST00000450244.1_Silent_p.L1140L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1140					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATTCCATTAAGTTAATGAGG	0.478																																																	0													106.0	103.0	104.0					3																	38913761		2203	4300	6503	SO:0001819	synonymous_variant	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3418T>C	3.37:g.38913761A>G			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L1140	ENST00000302328.3	37	c.3418	CCDS33737.1	3																																																																																			SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.478	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0.00	76	0	A	NM_014139		38913761	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	silent	19.05	34	8	SNP	0.000	G
SENP7	57337	genome.wustl.edu	37	3	101090887	101090887	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:101090887C>T	ENST00000394095.2	-	7	814	c.761G>A	c.(760-762)gGc>gAc	p.G254D	SENP7_ENST00000394091.1_Missense_Mutation_p.G90D|SENP7_ENST00000348610.3_Missense_Mutation_p.G221D|SENP7_ENST00000394094.2_Missense_Mutation_p.G189D|SENP7_ENST00000314261.7_Missense_Mutation_p.G188D|SENP7_ENST00000358203.3_Missense_Mutation_p.G90D	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	254						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGAAATGCCATCATCCTT	0.343																																																	0													107.0	102.0	104.0					3																	101090887		2203	4300	6503	SO:0001583	missense	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.761G>A	3.37:g.101090887C>T	ENSP00000377655:p.Gly254Asp		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.G254D	ENST00000394095.2	37	c.761	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.513512	0.00153	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.32;2.32;2.28	4.35	-4.15	0.03881	.	1.171620	0.06365	N	0.712505	T	0.11067	0.0270	L	0.38531	1.155	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.45629	-0.9248	10	0.05436	T	0.98	8.4904	11.1042	0.48193	0.0:0.5083:0.0:0.4917	.	90;188;221;254	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	D	254;189;188;90;90;221	ENSP00000377655:G254D;ENSP00000377654:G189D;ENSP00000313624:G188D;ENSP00000377651:G90D;ENSP00000350936:G90D;ENSP00000342159:G221D	ENSP00000313624:G188D	G	-	2	0	SENP7	102573577	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.798000	0.04565	-0.799000	0.04439	-1.451000	0.01035	GGC	SENP7	-	NULL	ENSG00000138468		0.343	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	-	0.00	129	0	C	NM_020654		101090887	-1	tier1	-	no_errors	ENST00000394095	ensembl	human	known	74_37	missense	16.05	68	13	SNP	0.000	T
SENP7	57337	genome.wustl.edu	37	3	101090887	101090887	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:101090887C>T	ENST00000394095.2	-	7	814	c.761G>A	c.(760-762)gGc>gAc	p.G254D	SENP7_ENST00000394091.1_Missense_Mutation_p.G90D|SENP7_ENST00000348610.3_Missense_Mutation_p.G221D|SENP7_ENST00000394094.2_Missense_Mutation_p.G189D|SENP7_ENST00000314261.7_Missense_Mutation_p.G188D|SENP7_ENST00000358203.3_Missense_Mutation_p.G90D	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	254						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGAAATGCCATCATCCTT	0.343																																																	0													107.0	102.0	104.0					3																	101090887		2203	4300	6503	SO:0001583	missense	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.761G>A	3.37:g.101090887C>T	ENSP00000377655:p.Gly254Asp		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.G254D	ENST00000394095.2	37	c.761	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.513512	0.00153	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.32;2.32;2.28	4.35	-4.15	0.03881	.	1.171620	0.06365	N	0.712505	T	0.11067	0.0270	L	0.38531	1.155	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.45629	-0.9248	10	0.05436	T	0.98	8.4904	11.1042	0.48193	0.0:0.5083:0.0:0.4917	.	90;188;221;254	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	D	254;189;188;90;90;221	ENSP00000377655:G254D;ENSP00000377654:G189D;ENSP00000313624:G188D;ENSP00000377651:G90D;ENSP00000350936:G90D;ENSP00000342159:G221D	ENSP00000313624:G188D	G	-	2	0	SENP7	102573577	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.798000	0.04565	-0.799000	0.04439	-1.451000	0.01035	GGC	SENP7	-	NULL	ENSG00000138468		0.343	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	-	0.00	68	0	C	NM_020654		101090887	-1	tier1	-	no_errors	ENST00000394095	ensembl	human	known	74_37	missense	16.05	68	13	SNP	0.000	T
SEPT3	55964	genome.wustl.edu	37	22	42377841	42377841	+	Splice_Site	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:42377841G>T	ENST00000396426.3	+	2	457		c.e2+1		SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000328414.8_Splice_Site|SEPT3_ENST00000291236.11_Intron|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000396425.3_Splice_Site	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3						cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.?(1)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ATGGTCGTTGGTACGGAAGGC	0.557																																																	1	Unknown(1)	large_intestine(1)											92.0	75.0	81.0					22																	42377841		2203	4300	6503	SO:0001630	splice_region_variant	0			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.202+1G>T	22.37:g.42377841G>T			B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Splice_Site	SNP	-	e2+1	ENST00000396426.3	37	c.202+1	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536225	0.45176	.	.	ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000328414;ENST00000396425	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6688	0.95903	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEPT3	40707787	1.000000	0.71417	0.960000	0.40013	0.110000	0.19582	9.869000	0.99810	2.735000	0.93741	0.557000	0.71058	.	SEPT3	-	-	ENSG00000100167		0.557	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	HGNC	protein_coding	OTTHUMT00000322051.1		0.00	51	0	G	NM_145734	Intron	42377841	+1			no_errors	ENST00000396426	ensembl	human	known	74_37	splice_site	5.26	36	2	SNP	1.000	T
SET	6418	genome.wustl.edu	37	9	131455203	131455203	+	Silent	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:131455203G>C	ENST00000372692.4	+	5	715	c.474G>C	c.(472-474)ctG>ctC	p.L158L	SET_ENST00000372688.4_Silent_p.L134L|SET_ENST00000409104.3_Silent_p.L136L|SET_ENST00000322030.8_Silent_p.L145L|SET_ENST00000477806.1_3'UTR	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	158	Earmuff domain.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AATTTCATCTGAATGAGAGTG	0.313			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0													39.0	41.0	40.0					9																	131455203		2198	4296	6494	SO:0001819	synonymous_variant	0			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"""protein phosphatase type 2A inhibitor"", ""Template-Activating Factor-I, chromatin remodelling factor"""	600960	"""SET translocation (myeloid leukemia-associated)"""			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.474G>C	9.37:g.131455203G>C			A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Silent	SNP	pfam_NAP_family	p.L158	ENST00000372692.4	37	c.474	CCDS48037.1	9																																																																																			SET	-	pfam_NAP_family	ENSG00000119335		0.313	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2	-	0.00	44	0	G	NM_001122821		131455203	+1	tier1	-	no_errors	ENST00000372692	ensembl	human	known	74_37	silent	15.52	49	9	SNP	1.000	C
SET	6418	genome.wustl.edu	37	9	131455203	131455203	+	Silent	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:131455203G>C	ENST00000372692.4	+	5	715	c.474G>C	c.(472-474)ctG>ctC	p.L158L	SET_ENST00000372688.4_Silent_p.L134L|SET_ENST00000409104.3_Silent_p.L136L|SET_ENST00000322030.8_Silent_p.L145L|SET_ENST00000477806.1_3'UTR	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	158	Earmuff domain.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AATTTCATCTGAATGAGAGTG	0.313			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0													39.0	41.0	40.0					9																	131455203		2198	4296	6494	SO:0001819	synonymous_variant	0			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"""protein phosphatase type 2A inhibitor"", ""Template-Activating Factor-I, chromatin remodelling factor"""	600960	"""SET translocation (myeloid leukemia-associated)"""			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.474G>C	9.37:g.131455203G>C			A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Silent	SNP	pfam_NAP_family	p.L158	ENST00000372692.4	37	c.474	CCDS48037.1	9																																																																																			SET	-	pfam_NAP_family	ENSG00000119335		0.313	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2	-	0.00	68	0	G	NM_001122821		131455203	+1	tier1	-	no_errors	ENST00000372692	ensembl	human	known	74_37	silent	15.52	49	9	SNP	1.000	C
SETX	23064	genome.wustl.edu	37	9	135204547	135204547	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:135204547T>C	ENST00000224140.5	-	10	2620	c.2438A>G	c.(2437-2439)gAa>gGa	p.E813G	SETX_ENST00000372169.2_Missense_Mutation_p.E813G|SETX_ENST00000393220.1_Missense_Mutation_p.E813G	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	813					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGTCAAATTTTCATCTAAATT	0.333																																																	0													72.0	67.0	69.0					9																	135204547		2202	4300	6502	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2438A>G	9.37:g.135204547T>C	ENSP00000224140:p.Glu813Gly		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.E813G	ENST00000224140.5	37	c.2438	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	T	7.582	0.668952	0.14776	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87103	-2.12;-2.21;-1.82	5.73	2.07	0.26955	.	1.605110	0.03546	N	0.224698	T	0.80602	0.4654	L	0.29908	0.895	0.22468	N	0.999076	B;B;B	0.14012	0.009;0.002;0.009	B;B;B	0.15484	0.013;0.004;0.013	T	0.65261	-0.6211	10	0.62326	D	0.03	.	4.161	0.10284	0.0:0.2259:0.2361:0.538	.	813;813;813	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	G	813	ENSP00000224140:E813G;ENSP00000361242:E813G;ENSP00000376913:E813G	ENSP00000224140:E813G	E	-	2	0	SETX	134194368	0.103000	0.21917	0.633000	0.29310	0.072000	0.16883	-0.016000	0.12613	0.414000	0.25790	0.533000	0.62120	GAA	SETX	-	NULL	ENSG00000107290		0.333	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	-	0.00	21	0	T	NM_015046		135204547	-1	tier1	-	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	55.17	13	16	SNP	0.569	C
SETX	23064	genome.wustl.edu	37	9	135204547	135204547	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:135204547T>C	ENST00000224140.5	-	10	2620	c.2438A>G	c.(2437-2439)gAa>gGa	p.E813G	SETX_ENST00000372169.2_Missense_Mutation_p.E813G|SETX_ENST00000393220.1_Missense_Mutation_p.E813G	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	813					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGTCAAATTTTCATCTAAATT	0.333																																																	0													72.0	67.0	69.0					9																	135204547		2202	4300	6502	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2438A>G	9.37:g.135204547T>C	ENSP00000224140:p.Glu813Gly		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.E813G	ENST00000224140.5	37	c.2438	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	T	7.582	0.668952	0.14776	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87103	-2.12;-2.21;-1.82	5.73	2.07	0.26955	.	1.605110	0.03546	N	0.224698	T	0.80602	0.4654	L	0.29908	0.895	0.22468	N	0.999076	B;B;B	0.14012	0.009;0.002;0.009	B;B;B	0.15484	0.013;0.004;0.013	T	0.65261	-0.6211	10	0.62326	D	0.03	.	4.161	0.10284	0.0:0.2259:0.2361:0.538	.	813;813;813	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	G	813	ENSP00000224140:E813G;ENSP00000361242:E813G;ENSP00000376913:E813G	ENSP00000224140:E813G	E	-	2	0	SETX	134194368	0.103000	0.21917	0.633000	0.29310	0.072000	0.16883	-0.016000	0.12613	0.414000	0.25790	0.533000	0.62120	GAA	SETX	-	NULL	ENSG00000107290		0.333	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	-	0.00	9	0	T	NM_015046		135204547	-1	tier1	-	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	55.17	13	16	SNP	0.569	C
SGIP1	84251	genome.wustl.edu	37	1	67185003	67185003	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:67185003A>G	ENST00000371037.4	+	19	1734	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	SGIP1_ENST00000371036.3_Missense_Mutation_p.T355A|SGIP1_ENST00000435165.2_Missense_Mutation_p.T58A|SGIP1_ENST00000371035.3_Missense_Mutation_p.T343A|SGIP1_ENST00000237247.6_Missense_Mutation_p.T584A|SGIP1_ENST00000371039.1_Missense_Mutation_p.T356A	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	553					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGCCCCCTAACCATGGGAGC	0.418																																																	0													62.0	58.0	59.0					1																	67185003		2203	4300	6503	SO:0001583	missense	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1657A>G	1.37:g.67185003A>G	ENSP00000360076:p.Thr553Ala		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.T584A	ENST00000371037.4	37	c.1750	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035666	0.75617	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.47869	2.37;2.37;2.38;2.37;2.3;0.83	5.4	4.27	0.50696	.	0.152745	0.64402	N	0.000020	T	0.42653	0.1212	M	0.71581	2.175	0.58432	D	0.999994	P;B;P;P;B	0.50443	0.935;0.307;0.905;0.9;0.033	P;B;B;B;B	0.52793	0.709;0.079;0.3;0.275;0.039	T	0.35699	-0.9778	10	0.24483	T	0.36	-12.824	11.1581	0.48499	0.9275:0.0:0.0725:0.0	.	583;58;155;343;553	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	A	584;356;343;583;556;355;553;58	ENSP00000237247:T584A;ENSP00000360078:T356A;ENSP00000360074:T343A;ENSP00000360075:T355A;ENSP00000360076:T553A;ENSP00000395525:T58A	ENSP00000237247:T584A	T	+	1	0	SGIP1	66957591	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	8.905000	0.92613	0.888000	0.36160	-0.263000	0.10527	ACC	SGIP1	-	pfam_Muniscin_C-term_mu_dom	ENSG00000118473		0.418	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	-	0.00	56	0	A	NM_032291		67185003	+1	tier1	-	no_errors	ENST00000237247	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	G
SGIP1	84251	genome.wustl.edu	37	1	67185003	67185003	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:67185003A>G	ENST00000371037.4	+	19	1734	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	SGIP1_ENST00000371036.3_Missense_Mutation_p.T355A|SGIP1_ENST00000435165.2_Missense_Mutation_p.T58A|SGIP1_ENST00000371035.3_Missense_Mutation_p.T343A|SGIP1_ENST00000237247.6_Missense_Mutation_p.T584A|SGIP1_ENST00000371039.1_Missense_Mutation_p.T356A	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	553					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGCCCCCTAACCATGGGAGC	0.418																																																	0													62.0	58.0	59.0					1																	67185003		2203	4300	6503	SO:0001583	missense	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1657A>G	1.37:g.67185003A>G	ENSP00000360076:p.Thr553Ala		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.T584A	ENST00000371037.4	37	c.1750	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035666	0.75617	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.47869	2.37;2.37;2.38;2.37;2.3;0.83	5.4	4.27	0.50696	.	0.152745	0.64402	N	0.000020	T	0.42653	0.1212	M	0.71581	2.175	0.58432	D	0.999994	P;B;P;P;B	0.50443	0.935;0.307;0.905;0.9;0.033	P;B;B;B;B	0.52793	0.709;0.079;0.3;0.275;0.039	T	0.35699	-0.9778	10	0.24483	T	0.36	-12.824	11.1581	0.48499	0.9275:0.0:0.0725:0.0	.	583;58;155;343;553	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	A	584;356;343;583;556;355;553;58	ENSP00000237247:T584A;ENSP00000360078:T356A;ENSP00000360074:T343A;ENSP00000360075:T355A;ENSP00000360076:T553A;ENSP00000395525:T58A	ENSP00000237247:T584A	T	+	1	0	SGIP1	66957591	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	8.905000	0.92613	0.888000	0.36160	-0.263000	0.10527	ACC	SGIP1	-	pfam_Muniscin_C-term_mu_dom	ENSG00000118473		0.418	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	-	0.00	58	0	A	NM_032291		67185003	+1	tier1	-	no_errors	ENST00000237247	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	G
SGSM2	9905	genome.wustl.edu	37	17	2276309	2276309	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:2276309C>T	ENST00000426855.2	+	15	1891	c.1716C>T	c.(1714-1716)cgC>cgT	p.R572R	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000268989.3_Silent_p.R617R|SGSM2_ENST00000574563.1_Silent_p.R572R	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	572	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ACGAGATCCGCAAGGACGTCT	0.577																																																	0													76.0	59.0	64.0					17																	2276309		2200	4299	6499	SO:0001819	synonymous_variant	0			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1716C>T	17.37:g.2276309C>T			A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.R617	ENST00000426855.2	37	c.1851	CCDS45570.1	17																																																																																			SGSM2	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000141258		0.577	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	-	0.00	80	0	C	NM_014853		2276309	+1	tier1	-	no_errors	ENST00000268989	ensembl	human	known	74_37	silent	14.10	67	11	SNP	0.969	T
SGSM2	9905	genome.wustl.edu	37	17	2276309	2276309	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:2276309C>T	ENST00000426855.2	+	15	1891	c.1716C>T	c.(1714-1716)cgC>cgT	p.R572R	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000268989.3_Silent_p.R617R|SGSM2_ENST00000574563.1_Silent_p.R572R	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	572	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ACGAGATCCGCAAGGACGTCT	0.577																																																	0													76.0	59.0	64.0					17																	2276309		2200	4299	6499	SO:0001819	synonymous_variant	0			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1716C>T	17.37:g.2276309C>T			A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.R617	ENST00000426855.2	37	c.1851	CCDS45570.1	17																																																																																			SGSM2	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000141258		0.577	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	-	0.00	90	0	C	NM_014853		2276309	+1	tier1	-	no_errors	ENST00000268989	ensembl	human	known	74_37	silent	14.10	67	11	SNP	0.969	T
PDXP	57026	genome.wustl.edu	37	22	38061577	38061577	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:38061577C>T	ENST00000215904.6	+	2	646	c.590C>T	c.(589-591)gCc>gTc	p.A197V	SH3BP1_ENST00000599616.1_Missense_Mutation_p.A506V|PDXP_ENST00000403251.1_5'UTR	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	197					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GGGAGCCTGGCCGCTGCAGTG	0.652																																																	0													32.0	30.0	31.0					22																	38061577		2203	4299	6502	SO:0001583	missense	0			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.590C>T	22.37:g.38061577C>T	ENSP00000215904:p.Ala197Val		Q9UGY2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,superfamily_HAD-like_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.A506V	ENST00000215904.6	37	c.1517	CCDS13953.1	22	.	.	.	.	.	.	.	.	.	.	C	0.942	-0.709189	0.03230	.	.	ENSG00000241360	ENST00000215904	T	0.29655	1.56	5.58	3.5	0.40072	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	.	.	.	.	T	0.10208	0.0250	N	0.03224	-0.385	0.80722	D	1	B;B	0.26935	0.031;0.164	B;B	0.12156	0.003;0.007	T	0.15292	-1.0442	9	0.02654	T	1	-0.6502	9.0796	0.36542	0.0:0.7797:0.0:0.2203	.	197;506	Q96GD0;Q6ZT62	PLPP_HUMAN;.	V	197	ENSP00000215904:A197V	ENSP00000215904:A197V	A	+	2	0	PDXP	36391523	0.000000	0.05858	0.866000	0.34008	0.301000	0.27625	0.433000	0.21477	1.360000	0.45960	0.561000	0.74099	GCC	SH3BP1	-	superfamily_HAD-like_dom	ENSG00000100092		0.652	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000104105.2	-	0.00	41	0	C	NM_020315		38061577	+1	tier1	-	no_errors	ENST00000599616	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.810	T
PDXP	57026	genome.wustl.edu	37	22	38061577	38061577	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:38061577C>T	ENST00000215904.6	+	2	646	c.590C>T	c.(589-591)gCc>gTc	p.A197V	SH3BP1_ENST00000599616.1_Missense_Mutation_p.A506V|PDXP_ENST00000403251.1_5'UTR	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	197					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GGGAGCCTGGCCGCTGCAGTG	0.652																																																	0													32.0	30.0	31.0					22																	38061577		2203	4299	6502	SO:0001583	missense	0			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.590C>T	22.37:g.38061577C>T	ENSP00000215904:p.Ala197Val		Q9UGY2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,superfamily_HAD-like_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.A506V	ENST00000215904.6	37	c.1517	CCDS13953.1	22	.	.	.	.	.	.	.	.	.	.	C	0.942	-0.709189	0.03230	.	.	ENSG00000241360	ENST00000215904	T	0.29655	1.56	5.58	3.5	0.40072	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	.	.	.	.	T	0.10208	0.0250	N	0.03224	-0.385	0.80722	D	1	B;B	0.26935	0.031;0.164	B;B	0.12156	0.003;0.007	T	0.15292	-1.0442	9	0.02654	T	1	-0.6502	9.0796	0.36542	0.0:0.7797:0.0:0.2203	.	197;506	Q96GD0;Q6ZT62	PLPP_HUMAN;.	V	197	ENSP00000215904:A197V	ENSP00000215904:A197V	A	+	2	0	PDXP	36391523	0.000000	0.05858	0.866000	0.34008	0.301000	0.27625	0.433000	0.21477	1.360000	0.45960	0.561000	0.74099	GCC	SH3BP1	-	superfamily_HAD-like_dom	ENSG00000100092		0.652	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000104105.2	-	0.00	58	0	C	NM_020315		38061577	+1	tier1	-	no_errors	ENST00000599616	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.810	T
SHE	126669	genome.wustl.edu	37	1	154474133	154474133	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:154474133G>T	ENST00000304760.2	-	1	456	c.370C>A	c.(370-372)Cgg>Agg	p.R124R	TDRD10_ENST00000368480.3_5'Flank|TDRD10_ENST00000368482.4_5'Flank	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	124										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCGTGGCCCGGGAGTTTTTG	0.682																																																	0													38.0	37.0	38.0					1																	154474133		2202	4300	6502	SO:0001819	synonymous_variant	0			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.370C>A	1.37:g.154474133G>T			Q8TEQ5	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R124	ENST00000304760.2	37	c.370	CCDS30877.1	1																																																																																			SHE	-	NULL	ENSG00000169291		0.682	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHE	HGNC	protein_coding	OTTHUMT00000087910.2		0.00	18	0	G	NM_001010846		154474133	-1			no_errors	ENST00000304760	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.993	T
SHROOM3	57619	genome.wustl.edu	37	4	77652020	77652020	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:77652020C>T	ENST00000296043.6	+	4	1472	c.519C>T	c.(517-519)ccC>ccT	p.P173P	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	173					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGAAGCAACCCGATGCCAGCA	0.562																																																	0													198.0	178.0	185.0					4																	77652020		2203	4300	6503	SO:0001819	synonymous_variant	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.519C>T	4.37:g.77652020C>T			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P173	ENST00000296043.6	37	c.519	CCDS3579.2	4																																																																																			SHROOM3	-	NULL	ENSG00000138771		0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	-	0.00	66	0	C	NM_020859		77652020	+1	tier1	-	no_errors	ENST00000296043	ensembl	human	known	74_37	silent	18.42	31	7	SNP	0.000	T
SHROOM3	57619	genome.wustl.edu	37	4	77652020	77652020	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:77652020C>T	ENST00000296043.6	+	4	1472	c.519C>T	c.(517-519)ccC>ccT	p.P173P	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	173					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGAAGCAACCCGATGCCAGCA	0.562																																																	0													198.0	178.0	185.0					4																	77652020		2203	4300	6503	SO:0001819	synonymous_variant	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.519C>T	4.37:g.77652020C>T			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P173	ENST00000296043.6	37	c.519	CCDS3579.2	4																																																																																			SHROOM3	-	NULL	ENSG00000138771		0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	-	0.00	89	0	C	NM_020859		77652020	+1	tier1	-	no_errors	ENST00000296043	ensembl	human	known	74_37	silent	18.42	31	7	SNP	0.000	T
SIPA1L2	57568	genome.wustl.edu	37	1	232650209	232650209	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:232650209G>A	ENST00000366630.1	-	2	1235	c.877C>T	c.(877-879)Cga>Tga	p.R293*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R293*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	293					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CGAAGCTTTCGGAAGAGAGAT	0.498																																																	0													71.0	73.0	72.0					1																	232650209		1905	4117	6022	SO:0001587	stop_gained	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.877C>T	1.37:g.232650209G>A	ENSP00000355589:p.Arg293*		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R293*	ENST00000366630.1	37	c.877	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.612104	0.98884	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	.	.	.	5.54	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8356	13.4133	0.60954	0.0:0.0:0.4114:0.5886	.	.	.	.	X	293	.	ENSP00000262861:R293X	R	-	1	2	SIPA1L2	230716832	1.000000	0.71417	0.998000	0.56505	0.856000	0.48823	2.482000	0.45224	0.846000	0.35142	-0.188000	0.12872	CGA	SIPA1L2	-	NULL	ENSG00000116991		0.498	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0.00	35	0	G	XM_045839		232650209	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	nonsense	21.21	26	7	SNP	0.977	A
SIPA1L2	57568	genome.wustl.edu	37	1	232650209	232650209	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:232650209G>A	ENST00000366630.1	-	2	1235	c.877C>T	c.(877-879)Cga>Tga	p.R293*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R293*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	293					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CGAAGCTTTCGGAAGAGAGAT	0.498																																																	0													71.0	73.0	72.0					1																	232650209		1905	4117	6022	SO:0001587	stop_gained	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.877C>T	1.37:g.232650209G>A	ENSP00000355589:p.Arg293*		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R293*	ENST00000366630.1	37	c.877	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.612104	0.98884	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	.	.	.	5.54	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8356	13.4133	0.60954	0.0:0.0:0.4114:0.5886	.	.	.	.	X	293	.	ENSP00000262861:R293X	R	-	1	2	SIPA1L2	230716832	1.000000	0.71417	0.998000	0.56505	0.856000	0.48823	2.482000	0.45224	0.846000	0.35142	-0.188000	0.12872	CGA	SIPA1L2	-	NULL	ENSG00000116991		0.498	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0.00	45	0	G	XM_045839		232650209	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	nonsense	21.21	26	7	SNP	0.977	A
SLC12A1	6557	genome.wustl.edu	37	15	48519305	48519305	+	Intron	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:48519305G>A	ENST00000558405.1	+	4	738				SLC12A1_ENST00000380993.3_Intron|SLC12A1_ENST00000559723.1_Intron|SLC12A1_ENST00000330289.6_Intron|SLC12A1_ENST00000396577.3_Missense_Mutation_p.V220M			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1						cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGGCCTAAGTGTGGTAGTAAC	0.438																																																	0													251.0	207.0	221.0					15																	48519305		687	1588	2275	SO:0001627	intron_variant	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.724+537G>A	15.37:g.48519305G>A			A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.V220M	ENST00000558405.1	37	c.658	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040084	0.55003	.	.	ENSG00000074803	ENST00000396577	D	0.98807	-5.15	5.77	5.77	0.91146	.	0.451534	0.25535	N	0.030006	D	0.98283	0.9431	L	0.41236	1.265	0.80722	D	1	.	.	.	.	.	.	D	0.98776	1.0730	8	0.54805	T	0.06	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	M	220	ENSP00000379822:V220M	ENSP00000379822:V220M	V	+	1	0	SLC12A1	46306597	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.263000	0.65507	2.884000	0.98904	0.655000	0.94253	GTG	SLC12A1	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.438	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0.00	101	0	G			48519305	+1	tier1	-	no_errors	ENST00000396577	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A
SLC12A1	6557	genome.wustl.edu	37	15	48519305	48519305	+	Intron	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:48519305G>A	ENST00000558405.1	+	4	738				SLC12A1_ENST00000380993.3_Intron|SLC12A1_ENST00000559723.1_Intron|SLC12A1_ENST00000330289.6_Intron|SLC12A1_ENST00000396577.3_Missense_Mutation_p.V220M			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1						cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGGCCTAAGTGTGGTAGTAAC	0.438																																																	0													251.0	207.0	221.0					15																	48519305		687	1588	2275	SO:0001627	intron_variant	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.724+537G>A	15.37:g.48519305G>A			A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.V220M	ENST00000558405.1	37	c.658	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040084	0.55003	.	.	ENSG00000074803	ENST00000396577	D	0.98807	-5.15	5.77	5.77	0.91146	.	0.451534	0.25535	N	0.030006	D	0.98283	0.9431	L	0.41236	1.265	0.80722	D	1	.	.	.	.	.	.	D	0.98776	1.0730	8	0.54805	T	0.06	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	M	220	ENSP00000379822:V220M	ENSP00000379822:V220M	V	+	1	0	SLC12A1	46306597	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.263000	0.65507	2.884000	0.98904	0.655000	0.94253	GTG	SLC12A1	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.438	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0.00	51	0	G			48519305	+1	tier1	-	no_errors	ENST00000396577	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A
SLC12A5	57468	genome.wustl.edu	37	20	44685162	44685162	+	Silent	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:44685162T>A	ENST00000454036.2	+	23	3187	c.3138T>A	c.(3136-3138)ccT>ccA	p.P1046P	SLC12A5_ENST00000243964.3_Silent_p.P1023P	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1046					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCCCAGTCCTGTCTCCTCTG	0.612																																																	0													53.0	50.0	51.0					20																	44685162		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3138T>A	20.37:g.44685162T>A			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P1046	ENST00000454036.2	37	c.3138	CCDS46610.1	20																																																																																			SLC12A5	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.612	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0.00	102	0	T			44685162	+1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	silent	40.57	63	43	SNP	0.001	A
SLC12A5	57468	genome.wustl.edu	37	20	44685162	44685162	+	Silent	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:44685162T>A	ENST00000454036.2	+	23	3187	c.3138T>A	c.(3136-3138)ccT>ccA	p.P1046P	SLC12A5_ENST00000243964.3_Silent_p.P1023P	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1046					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCCCAGTCCTGTCTCCTCTG	0.612																																																	0													53.0	50.0	51.0					20																	44685162		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3138T>A	20.37:g.44685162T>A			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P1046	ENST00000454036.2	37	c.3138	CCDS46610.1	20																																																																																			SLC12A5	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.612	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0.00	97	0	T			44685162	+1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	silent	40.57	63	43	SNP	0.001	A
SLC12A6	9990	genome.wustl.edu	37	15	34546623	34546623	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:34546623C>A	ENST00000354181.3	-	9	1536	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L	SLC12A6_ENST00000558667.1_Silent_p.L348L|SLC12A6_ENST00000560611.1_Silent_p.L348L|SLC12A6_ENST00000451844.2_Silent_p.L160L|SLC12A6_ENST00000290209.5_Silent_p.L297L|SLC12A6_ENST00000397702.2_Silent_p.L289L|SLC12A6_ENST00000458406.2_Silent_p.L289L|SLC12A6_ENST00000397707.2_Silent_p.L333L|SLC12A6_ENST00000560164.1_Silent_p.L160L|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558589.1_Silent_p.L339L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	348					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TGACACAGGCCAGGAAAAGTG	0.478																																																	0													158.0	132.0	141.0					15																	34546623		2201	4298	6499	SO:0001819	synonymous_variant	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1044G>T	15.37:g.34546623C>A			A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L339	ENST00000354181.3	37	c.1017	CCDS58352.1	15																																																																																			SLC12A6	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000140199		0.478	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	-	0.00	74	0	C	NM_005135		34546623	-1	tier1	-	no_errors	ENST00000558589	ensembl	human	known	74_37	silent	7.81	58	5	SNP	1.000	A
SLC12A6	9990	genome.wustl.edu	37	15	34546623	34546623	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:34546623C>A	ENST00000354181.3	-	9	1536	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L	SLC12A6_ENST00000558667.1_Silent_p.L348L|SLC12A6_ENST00000560611.1_Silent_p.L348L|SLC12A6_ENST00000451844.2_Silent_p.L160L|SLC12A6_ENST00000290209.5_Silent_p.L297L|SLC12A6_ENST00000397702.2_Silent_p.L289L|SLC12A6_ENST00000458406.2_Silent_p.L289L|SLC12A6_ENST00000397707.2_Silent_p.L333L|SLC12A6_ENST00000560164.1_Silent_p.L160L|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558589.1_Silent_p.L339L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	348					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TGACACAGGCCAGGAAAAGTG	0.478																																																	0													158.0	132.0	141.0					15																	34546623		2201	4298	6499	SO:0001819	synonymous_variant	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1044G>T	15.37:g.34546623C>A			A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L339	ENST00000354181.3	37	c.1017	CCDS58352.1	15																																																																																			SLC12A6	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000140199		0.478	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	-	0.00	84	0	C	NM_005135		34546623	-1	tier1	-	no_errors	ENST00000558589	ensembl	human	known	74_37	silent	7.81	58	5	SNP	1.000	A
SLC18B1	116843	genome.wustl.edu	37	6	133097560	133097560	+	Missense_Mutation	SNP	T	T	G	rs60263064		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:133097560T>G	ENST00000275227.4	-	8	900	c.804A>C	c.(802-804)ttA>ttC	p.L268F	SLC18B1_ENST00000538764.1_Missense_Mutation_p.L142F|SLC18B1_ENST00000367918.1_Missense_Mutation_p.T81P	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	268					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											ATCCAGCTGGTAAATTGAACT	0.363																																																	0													69.0	68.0	69.0					6																	133097560		2203	4300	6503	SO:0001583	missense	0			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.804A>C	6.37:g.133097560T>G	ENSP00000275227:p.Leu268Phe		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L268F	ENST00000275227.4	37	c.804	CCDS5163.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.65|13.65	2.299049|2.299049	0.40694|0.40694	.|.	.|.	ENSG00000146409|ENSG00000146409	ENST00000275227;ENST00000538764|ENST00000367919;ENST00000367918	T;T|T	0.59638|0.58797	0.25;0.25|0.31	5.39|5.39	-0.867|-0.867	0.10655|0.10655	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52677|0.52677	0.1749|0.1749	M|M	0.72479|0.72479	2.2|2.2	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;0.985|.	D;D|.	0.91635|.	0.999;0.927|.	T|T	0.60058|0.60058	-0.7337|-0.7337	10|7	0.15952|0.59425	T|D	0.53|0.04	-16.0476|-16.0476	10.2149|10.2149	0.43162|0.43162	0.0:0.5678:0.0:0.4322|0.0:0.5678:0.0:0.4322	rs60263064|rs60263064	142;268|.	B7Z1S5;Q6NT16|.	.;CF192_HUMAN|.	F|P	268;142|81	ENSP00000275227:L268F;ENSP00000444098:L142F|ENSP00000356895:T81P	ENSP00000275227:L268F|ENSP00000356895:T81P	L|T	-|-	3|1	2|0	C6orf192|C6orf192	133139253|133139253	0.740000|0.740000	0.28207|0.28207	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	-0.324000|-0.324000	0.07986|0.07986	-0.092000|-0.092000	0.12417|0.12417	0.459000|0.459000	0.35465|0.35465	TTA|ACC	SLC18B1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146409		0.363	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1	-	0.00	55	0	T	NM_052831		133097560	-1	tier1	rs60263064	no_errors	ENST00000275227	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.972	G
SLC24A3	57419	genome.wustl.edu	37	20	19673907	19673907	+	Silent	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:19673907T>A	ENST00000328041.6	+	13	1526	c.1329T>A	c.(1327-1329)ggT>ggA	p.G443G	RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	443					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCCAGCGGGTAAACTGGAAA	0.428											OREG0025804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65.0	66.0	66.0					20																	19673907		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1329T>A	20.37:g.19673907T>A		735	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.G443	ENST00000328041.6	37	c.1329	CCDS13140.1	20																																																																																			SLC24A3	-	tigrfam_K/Na/Ca-exchanger	ENSG00000185052		0.428	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	-	0.00	84	0	T	NM_020689		19673907	+1	tier1	-	no_errors	ENST00000328041	ensembl	human	known	74_37	silent	6.32	88	6	SNP	0.909	A
SLC25A19	60386	genome.wustl.edu	37	17	73279593	73279593	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:73279593A>G	ENST00000402418.3	-	3	1279	c.370T>C	c.(370-372)Tgt>Cgt	p.C124R	SLC25A19_ENST00000375261.4_Intron|SLC25A19_ENST00000442286.2_Missense_Mutation_p.C124R|SLC25A19_ENST00000580994.1_Missense_Mutation_p.C124R|SLC25A19_ENST00000320362.3_Missense_Mutation_p.C124R|SLC25A19_ENST00000416858.2_Missense_Mutation_p.C124R			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	124					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AGGCCACCACATACAAAGTGC	0.567																																																	0													54.0	43.0	47.0					17																	73279593		2203	4300	6503	SO:0001583	missense	0				CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.370T>C	17.37:g.73279593A>G	ENSP00000385312:p.Cys124Arg		E9PF74|Q6V9R7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.C124R	ENST00000402418.3	37	c.370	CCDS11720.1	17	.	.	.	.	.	.	.	.	.	.	A	7.219	0.597033	0.13875	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.02	5.02	0.67125	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91402	0.5144	10	0.72032	D	0.01	-18.2864	14.4121	0.67121	1.0:0.0:0.0:0.0	.	124	Q9HC21	TPC_HUMAN	R	124	ENSP00000397818:C124R;ENSP00000402202:C124R;ENSP00000319574:C124R;ENSP00000385312:C124R	ENSP00000319574:C124R	C	-	1	0	SLC25A19	70791188	1.000000	0.71417	0.057000	0.19452	0.002000	0.02628	8.903000	0.92573	1.877000	0.54381	0.448000	0.29417	TGT	SLC25A19	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000125454		0.567	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC25A19	HGNC	protein_coding	OTTHUMT00000447282.1	-	0.00	105	0	A	NM_021734		73279593	-1	tier1	-	no_errors	ENST00000320362	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	G
SLC25A19	60386	genome.wustl.edu	37	17	73279593	73279593	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:73279593A>G	ENST00000402418.3	-	3	1279	c.370T>C	c.(370-372)Tgt>Cgt	p.C124R	SLC25A19_ENST00000375261.4_Intron|SLC25A19_ENST00000442286.2_Missense_Mutation_p.C124R|SLC25A19_ENST00000580994.1_Missense_Mutation_p.C124R|SLC25A19_ENST00000320362.3_Missense_Mutation_p.C124R|SLC25A19_ENST00000416858.2_Missense_Mutation_p.C124R			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	124					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AGGCCACCACATACAAAGTGC	0.567																																																	0													54.0	43.0	47.0					17																	73279593		2203	4300	6503	SO:0001583	missense	0				CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.370T>C	17.37:g.73279593A>G	ENSP00000385312:p.Cys124Arg		E9PF74|Q6V9R7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.C124R	ENST00000402418.3	37	c.370	CCDS11720.1	17	.	.	.	.	.	.	.	.	.	.	A	7.219	0.597033	0.13875	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.02	5.02	0.67125	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91402	0.5144	10	0.72032	D	0.01	-18.2864	14.4121	0.67121	1.0:0.0:0.0:0.0	.	124	Q9HC21	TPC_HUMAN	R	124	ENSP00000397818:C124R;ENSP00000402202:C124R;ENSP00000319574:C124R;ENSP00000385312:C124R	ENSP00000319574:C124R	C	-	1	0	SLC25A19	70791188	1.000000	0.71417	0.057000	0.19452	0.002000	0.02628	8.903000	0.92573	1.877000	0.54381	0.448000	0.29417	TGT	SLC25A19	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000125454		0.567	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC25A19	HGNC	protein_coding	OTTHUMT00000447282.1	-	0.00	86	0	A	NM_021734		73279593	-1	tier1	-	no_errors	ENST00000320362	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	G
SLC25A25	114789	genome.wustl.edu	37	9	130864363	130864363	+	Intron	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:130864363C>T	ENST00000373064.5	+	4	637				SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373066.5_Nonsense_Mutation_p.R147*|SLC25A25_ENST00000373069.5_Nonsense_Mutation_p.R161*|SLC25A25_ENST00000432073.2_Intron|SLC25A25_ENST00000433501.1_Intron	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25						adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TGTCAGAATACGAACGGGCCA	0.527																																																	0																																										SO:0001627	intron_variant	0			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.375-286C>T	9.37:g.130864363C>T			Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.R161*	ENST00000373064.5	37	c.481	CCDS6890.1	9	.	.	.	.	.	.	.	.	.	.	C	41	8.744099	0.98937	.	.	ENSG00000148339	ENST00000373069;ENST00000373066	.	.	.	5.55	5.55	0.83447	.	0.303465	0.24298	N	0.039746	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-9.3714	12.1778	0.54196	0.27:0.73:0.0:0.0	.	.	.	.	X	161;147	.	ENSP00000362157:R147X	R	+	1	2	SLC25A25	129904184	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.849000	0.62882	2.608000	0.88229	0.462000	0.41574	CGA	SLC25A25	-	NULL	ENSG00000148339		0.527	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A25	HGNC	protein_coding	OTTHUMT00000054407.1		0.00	80	0	C	NM_052901		130864363	+1			no_errors	ENST00000373069	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	T
SLC25A3P1	163742	genome.wustl.edu	37	1	53904718	53904718	+	RNA	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:53904718A>C	ENST00000566100.1	-	0	520									solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1																		AACTTGAAGAAGCCCTGCAGG	0.657																																																	0																																												0					1p32.3	2013-05-22	2012-03-29		ENSG00000236253	ENSG00000236253		"""Solute carriers"""	26869	pseudogene	pseudogene			"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 pseudogene 1"""				Standard	NR_002314		Approved	FLJ40434	uc009vzj.3		OTTHUMG00000008078		1.37:g.53904718A>C				RNA	SNP	-	NULL	ENST00000566100.1	37	NULL		1																																																																																			SLC25A3P1	-	-	ENSG00000236253		0.657	SLC25A3P1-002	KNOWN	basic	processed_transcript	SLC25A3P1	HGNC	pseudogene	OTTHUMT00000422839.1	-	0.00	12	0	A	NM_178501		53904718	-1	tier1	-	no_errors	ENST00000562700	ensembl	human	known	74_37	rna	40.00	6	4	SNP	0.993	C
SLC25A3P1	163742	genome.wustl.edu	37	1	53904718	53904718	+	RNA	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:53904718A>C	ENST00000566100.1	-	0	520									solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1																		AACTTGAAGAAGCCCTGCAGG	0.657																																																	0																																												0					1p32.3	2013-05-22	2012-03-29		ENSG00000236253	ENSG00000236253		"""Solute carriers"""	26869	pseudogene	pseudogene			"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 pseudogene 1"""				Standard	NR_002314		Approved	FLJ40434	uc009vzj.3		OTTHUMG00000008078		1.37:g.53904718A>C				RNA	SNP	-	NULL	ENST00000566100.1	37	NULL		1																																																																																			SLC25A3P1	-	-	ENSG00000236253		0.657	SLC25A3P1-002	KNOWN	basic	processed_transcript	SLC25A3P1	HGNC	pseudogene	OTTHUMT00000422839.1	-	0.00	9	0	A	NM_178501		53904718	-1	tier1	-	no_errors	ENST00000562700	ensembl	human	known	74_37	rna	40.00	6	4	SNP	0.993	C
SLC27A2	11001	genome.wustl.edu	37	15	50519256	50519256	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:50519256G>T	ENST00000267842.5	+	7	1570	c.1338G>T	c.(1336-1338)gaG>gaT	p.E446D	SLC27A2_ENST00000380902.4_Missense_Mutation_p.E393D|SLC27A2_ENST00000544960.1_Missense_Mutation_p.E211D	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	446					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTCAGACAGAGAAGAAAAAAC	0.383																																																	0													81.0	81.0	81.0					15																	50519256		2196	4295	6491	SO:0001583	missense	0			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1338G>T	15.37:g.50519256G>T	ENSP00000267842:p.Glu446Asp		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E446D	ENST00000267842.5	37	c.1338	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018641	0.75275	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.50548	0.74;0.96;0.96	5.78	3.74	0.42951	AMP-dependent synthetase/ligase (1);	0.049847	0.85682	D	0.000000	T	0.55893	0.1949	L	0.58969	1.84	0.49915	D	0.999838	B;D	0.55172	0.195;0.97	B;P	0.59546	0.346;0.859	T	0.53809	-0.8386	10	0.52906	T	0.07	.	7.1489	0.25599	0.3059:0.0:0.6941:0.0	.	393;446	Q6PF09;O14975	.;S27A2_HUMAN	D	393;446;211	ENSP00000370289:E393D;ENSP00000267842:E446D;ENSP00000444549:E211D	ENSP00000267842:E446D	E	+	3	2	SLC27A2	48306548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.247000	0.43151	0.637000	0.30526	0.655000	0.94253	GAG	SLC27A2	-	pfam_AMP-dep_Synth/Lig	ENSG00000140284		0.383	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2		0.00	46	0	G	NM_003645		50519256	+1			no_errors	ENST00000267842	ensembl	human	known	74_37	missense	6.25	29	2	SNP	1.000	T
SLC27A5	10998	genome.wustl.edu	37	19	59022820	59022820	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:59022820C>A	ENST00000263093.2	-	1	612	c.503G>T	c.(502-504)aGc>aTc	p.S168I	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	168					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGCACACAGGCTCGCAGGGTC	0.692																																																	0													12.0	11.0	11.0					19																	59022820		2176	4276	6452	SO:0001583	missense	0			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.503G>T	19.37:g.59022820C>A	ENSP00000263093:p.Ser168Ile		B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S168I	ENST00000263093.2	37	c.503	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	7.228	0.598761	0.13939	.	.	ENSG00000083807	ENST00000263093	T	0.53857	0.6	3.78	0.133	0.14766	AMP-dependent synthetase/ligase (1);	0.902255	0.09446	N	0.801112	T	0.28699	0.0711	N	0.11927	0.2	0.09310	N	1	B	0.17465	0.022	B	0.15870	0.014	T	0.18745	-1.0327	10	0.45353	T	0.12	-5.6423	2.179	0.03869	0.2074:0.4922:0.1854:0.115	.	168	Q9Y2P5	S27A5_HUMAN	I	168	ENSP00000263093:S168I	ENSP00000263093:S168I	S	-	2	0	SLC27A5	63714632	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.291000	0.08343	0.022000	0.15160	0.455000	0.32223	AGC	SLC27A5	-	pfam_AMP-dep_Synth/Lig	ENSG00000083807		0.692	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	-	0.00	73	0	C	NM_012254		59022820	-1	tier1	-	no_errors	ENST00000263093	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.000	A
SLC31A2	1318	genome.wustl.edu	37	9	115923847	115923847	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:115923847G>T	ENST00000259392.3	+	3	265	c.132G>T	c.(130-132)aaG>aaT	p.K44N		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	44					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)	AAGGCATCAAGGTTGGCAAAG	0.582																																																	0													196.0	198.0	197.0					9																	115923847		2178	4272	6450	SO:0001583	missense	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.132G>T	9.37:g.115923847G>T	ENSP00000259392:p.Lys44Asn			Missense_Mutation	SNP	pfam_Cop_transporter	p.K44N	ENST00000259392.3	37	c.132	CCDS6788.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055684	0.75960	.	.	ENSG00000136867	ENST00000259392	T	0.79454	-1.27	5.46	3.38	0.38709	.	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86707	0.1933	10	0.87932	D	0	-8.5387	5.3376	0.15967	0.2803:0.0:0.7197:0.0	.	44;44	B4DIE0;O15432	.;COPT2_HUMAN	N	44	ENSP00000259392:K44N	ENSP00000259392:K44N	K	+	3	2	SLC31A2	114963668	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.611000	0.36879	1.311000	0.45024	0.655000	0.94253	AAG	SLC31A2	-	pfam_Cop_transporter	ENSG00000136867		0.582	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC31A2	HGNC	protein_coding	OTTHUMT00000055509.2	-	0.00	66	0	G	NM_001860		115923847	+1	tier1	-	no_errors	ENST00000259392	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	T
SLC31A2	1318	genome.wustl.edu	37	9	115923847	115923847	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:115923847G>T	ENST00000259392.3	+	3	265	c.132G>T	c.(130-132)aaG>aaT	p.K44N		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	44					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)	AAGGCATCAAGGTTGGCAAAG	0.582																																																	0													196.0	198.0	197.0					9																	115923847		2178	4272	6450	SO:0001583	missense	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.132G>T	9.37:g.115923847G>T	ENSP00000259392:p.Lys44Asn			Missense_Mutation	SNP	pfam_Cop_transporter	p.K44N	ENST00000259392.3	37	c.132	CCDS6788.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055684	0.75960	.	.	ENSG00000136867	ENST00000259392	T	0.79454	-1.27	5.46	3.38	0.38709	.	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86707	0.1933	10	0.87932	D	0	-8.5387	5.3376	0.15967	0.2803:0.0:0.7197:0.0	.	44;44	B4DIE0;O15432	.;COPT2_HUMAN	N	44	ENSP00000259392:K44N	ENSP00000259392:K44N	K	+	3	2	SLC31A2	114963668	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.611000	0.36879	1.311000	0.45024	0.655000	0.94253	AAG	SLC31A2	-	pfam_Cop_transporter	ENSG00000136867		0.582	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC31A2	HGNC	protein_coding	OTTHUMT00000055509.2	-	0.00	73	0	G	NM_001860		115923847	+1	tier1	-	no_errors	ENST00000259392	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	T
SLC35D1	23169	genome.wustl.edu	37	1	67519675	67519675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:67519675G>A	ENST00000235345.5	-	1	107	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	8					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						CGAGCATGCTGACGTCTATGA	0.667																																																	0													35.0	40.0	39.0					1																	67519675		2203	4300	6503	SO:0001587	stop_gained	0			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.22C>T	1.37:g.67519675G>A	ENSP00000235345:p.Gln8*		A8K185|B7Z3X2|Q52LU5|Q92548	Nonsense_Mutation	SNP	pfam_Tpt_PEP_trans_dom	p.Q8*	ENST00000235345.5	37	c.22	CCDS636.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.805530	0.97853	.	.	ENSG00000116704	ENST00000235345	.	.	.	3.41	3.41	0.39046	.	0.125531	0.33327	N	0.005024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-1.0228	12.6981	0.57016	0.0:0.0:1.0:0.0	.	.	.	.	X	8	.	ENSP00000235345:Q8X	Q	-	1	0	SLC35D1	67292263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.822000	0.75277	1.900000	0.55004	0.462000	0.41574	CAG	SLC35D1	-	NULL	ENSG00000116704		0.667	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	HGNC	protein_coding	OTTHUMT00000025948.1	-	0.00	84	0	G	NM_015139		67519675	-1	tier1	-	no_errors	ENST00000235345	ensembl	human	known	74_37	nonsense	14.06	55	9	SNP	1.000	A
SLC35D1	23169	genome.wustl.edu	37	1	67519675	67519675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:67519675G>A	ENST00000235345.5	-	1	107	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	8					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						CGAGCATGCTGACGTCTATGA	0.667																																																	0													35.0	40.0	39.0					1																	67519675		2203	4300	6503	SO:0001587	stop_gained	0			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.22C>T	1.37:g.67519675G>A	ENSP00000235345:p.Gln8*		A8K185|B7Z3X2|Q52LU5|Q92548	Nonsense_Mutation	SNP	pfam_Tpt_PEP_trans_dom	p.Q8*	ENST00000235345.5	37	c.22	CCDS636.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.805530	0.97853	.	.	ENSG00000116704	ENST00000235345	.	.	.	3.41	3.41	0.39046	.	0.125531	0.33327	N	0.005024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-1.0228	12.6981	0.57016	0.0:0.0:1.0:0.0	.	.	.	.	X	8	.	ENSP00000235345:Q8X	Q	-	1	0	SLC35D1	67292263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.822000	0.75277	1.900000	0.55004	0.462000	0.41574	CAG	SLC35D1	-	NULL	ENSG00000116704		0.667	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	HGNC	protein_coding	OTTHUMT00000025948.1	-	0.00	99	0	G	NM_015139		67519675	-1	tier1	-	no_errors	ENST00000235345	ensembl	human	known	74_37	nonsense	14.06	55	9	SNP	1.000	A
SLC39A5	283375	genome.wustl.edu	37	12	56631322	56631322	+	Intron	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:56631322T>A	ENST00000266980.4	+	11	1772				ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Intron|SLC39A5_ENST00000419232.1_3'UTR	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5						cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTCTGGAGTTGAGAGGTCAG	0.567																																																	0													60.0	47.0	51.0					12																	56631322		2203	4300	6503	SO:0001627	intron_variant	0				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1480-50T>A	12.37:g.56631322T>A			B2R808|Q8N6Y3	RNA	SNP	-	NULL	ENST00000266980.4	37	NULL	CCDS8912.2	12																																																																																			SLC39A5	-	-	ENSG00000139540		0.567	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	-	0.00	24	0	T	NM_173596		56631322	+1	tier1	-	no_errors	ENST00000419232	ensembl	human	known	74_37	rna	54.55	5	6	SNP	0.000	A
SLC39A5	283375	genome.wustl.edu	37	12	56631322	56631322	+	Intron	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:56631322T>A	ENST00000266980.4	+	11	1772				ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Intron|SLC39A5_ENST00000419232.1_3'UTR	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5						cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTCTGGAGTTGAGAGGTCAG	0.567																																																	0													60.0	47.0	51.0					12																	56631322		2203	4300	6503	SO:0001627	intron_variant	0				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1480-50T>A	12.37:g.56631322T>A			B2R808|Q8N6Y3	RNA	SNP	-	NULL	ENST00000266980.4	37	NULL	CCDS8912.2	12																																																																																			SLC39A5	-	-	ENSG00000139540		0.567	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	-	0.00	30	0	T	NM_173596		56631322	+1	tier1	-	no_errors	ENST00000419232	ensembl	human	known	74_37	rna	54.55	5	6	SNP	0.000	A
SLC39A6	25800	genome.wustl.edu	37	18	33692509	33692509	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:33692509T>C	ENST00000590986.1	-	8	2168	c.1879A>G	c.(1879-1881)Agt>Ggt	p.S627G	SLC39A6_ENST00000440549.2_Missense_Mutation_p.S352G|SLC39A6_ENST00000269187.5_Missense_Mutation_p.S627G			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	627					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ACAGAAGTACTTAAACCACTT	0.348																																																	0													166.0	156.0	159.0					18																	33692509		1881	4103	5984	SO:0001583	missense	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1879A>G	18.37:g.33692509T>C	ENSP00000465915:p.Ser627Gly		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.S627G	ENST00000590986.1	37	c.1879	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758749	0.89843	.	.	ENSG00000141424	ENST00000269187;ENST00000543723;ENST00000440549	T;T	0.51574	0.7;0.7	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	L	0.39692	1.235	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.987	T	0.62096	-0.6926	10	0.62326	D	0.03	-19.135	14.5226	0.67863	0.0:0.0:0.0:1.0	.	627;352	Q13433;Q13433-2	S39A6_HUMAN;.	G	627;352;352	ENSP00000269187:S627G;ENSP00000401139:S352G	ENSP00000269187:S627G	S	-	1	0	SLC39A6	31946507	1.000000	0.71417	0.968000	0.41197	0.964000	0.63967	7.728000	0.84847	2.371000	0.80710	0.533000	0.62120	AGT	SLC39A6	-	pfam_ZIP	ENSG00000141424		0.348	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1		0.00	53	0	T			33692509	-1			no_errors	ENST00000269187	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	C
SLC39A7	7922	genome.wustl.edu	37	6	33171987	33171987	+	3'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:33171987G>T	ENST00000374677.3	+	0	2180				SLC39A7_ENST00000374675.3_3'UTR|SLC39A7_ENST00000463972.1_3'UTR|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7						transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GAGGCTTCAGGGAAGACCAGA	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.*397G>T	6.37:g.33171987G>T			B0UXF6|Q5STP8|Q9UIQ0	RNA	SNP	-	NULL	ENST00000374677.3	37	NULL	CCDS43453.1	6																																																																																			SLC39A7	-	-	ENSG00000112473		0.537	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	-	0.00	55	0	G	NM_006979		33171987	+1	tier1	-	no_errors	ENST00000463972	ensembl	human	putative	74_37	rna	11.43	31	4	SNP	0.000	T
SLC39A7	7922	genome.wustl.edu	37	6	33171987	33171987	+	3'UTR	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:33171987G>T	ENST00000374677.3	+	0	2180				SLC39A7_ENST00000374675.3_3'UTR|SLC39A7_ENST00000463972.1_3'UTR|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7						transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GAGGCTTCAGGGAAGACCAGA	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.*397G>T	6.37:g.33171987G>T			B0UXF6|Q5STP8|Q9UIQ0	RNA	SNP	-	NULL	ENST00000374677.3	37	NULL	CCDS43453.1	6																																																																																			SLC39A7	-	-	ENSG00000112473		0.537	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	-	0.00	76	0	G	NM_006979		33171987	+1	tier1	-	no_errors	ENST00000463972	ensembl	human	putative	74_37	rna	11.43	31	4	SNP	0.000	T
SLC44A3	126969	genome.wustl.edu	37	1	95286603	95286603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:95286603G>A	ENST00000271227.6	+	2	228	c.126G>A	c.(124-126)tgG>tgA	p.W42*	SLC44A3_ENST00000446120.2_Intron|SLC44A3_ENST00000532427.1_Intron|LINC01057_ENST00000452922.1_lincRNA|SLC44A3_ENST00000527077.1_Intron|SLC44A3_ENST00000529450.1_Nonsense_Mutation_p.W42*|SLC44A3_ENST00000467909.1_Intron	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	42					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTCTCTTTTGGACTGGTTTGG	0.483																																																	0													298.0	244.0	260.0					1																	95286603		692	1591	2283	SO:0001587	stop_gained	0			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.126G>A	1.37:g.95286603G>A	ENSP00000271227:p.Trp42*		B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Nonsense_Mutation	SNP	pfam_Choline_transptr-like	p.W42*	ENST00000271227.6	37	c.126	CCDS44176.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.809354	0.97853	.	.	ENSG00000143036	ENST00000271227;ENST00000529450	.	.	.	5.68	5.68	0.88126	.	0.482878	0.21551	N	0.072738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-11.6852	18.5686	0.91126	0.0:0.0:1.0:0.0	.	.	.	.	X	42	.	ENSP00000271227:W42X	W	+	3	0	SLC44A3	95059191	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.969000	0.63735	2.675000	0.91044	0.557000	0.71058	TGG	SLC44A3	-	NULL	ENSG00000143036		0.483	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A3	HGNC	protein_coding	OTTHUMT00000029544.3	-	0.00	21	0	G	NM_152369		95286603	+1	tier1	-	no_errors	ENST00000271227	ensembl	human	known	74_37	nonsense	36.36	14	8	SNP	1.000	A
SLC44A3	126969	genome.wustl.edu	37	1	95286603	95286603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:95286603G>A	ENST00000271227.6	+	2	228	c.126G>A	c.(124-126)tgG>tgA	p.W42*	SLC44A3_ENST00000446120.2_Intron|SLC44A3_ENST00000532427.1_Intron|LINC01057_ENST00000452922.1_lincRNA|SLC44A3_ENST00000527077.1_Intron|SLC44A3_ENST00000529450.1_Nonsense_Mutation_p.W42*|SLC44A3_ENST00000467909.1_Intron	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	42					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTCTCTTTTGGACTGGTTTGG	0.483																																																	0													298.0	244.0	260.0					1																	95286603		692	1591	2283	SO:0001587	stop_gained	0			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.126G>A	1.37:g.95286603G>A	ENSP00000271227:p.Trp42*		B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Nonsense_Mutation	SNP	pfam_Choline_transptr-like	p.W42*	ENST00000271227.6	37	c.126	CCDS44176.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.809354	0.97853	.	.	ENSG00000143036	ENST00000271227;ENST00000529450	.	.	.	5.68	5.68	0.88126	.	0.482878	0.21551	N	0.072738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-11.6852	18.5686	0.91126	0.0:0.0:1.0:0.0	.	.	.	.	X	42	.	ENSP00000271227:W42X	W	+	3	0	SLC44A3	95059191	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.969000	0.63735	2.675000	0.91044	0.557000	0.71058	TGG	SLC44A3	-	NULL	ENSG00000143036		0.483	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A3	HGNC	protein_coding	OTTHUMT00000029544.3	-	0.00	24	0	G	NM_152369		95286603	+1	tier1	-	no_errors	ENST00000271227	ensembl	human	known	74_37	nonsense	36.36	14	8	SNP	1.000	A
SLC45A4	57210	genome.wustl.edu	37	8	142222452	142222452	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:142222452G>C	ENST00000024061.3	-	7	2299	c.1992C>G	c.(1990-1992)atC>atG	p.I664M	SLC45A4_ENST00000517878.1_Missense_Mutation_p.I715M|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I657M|SLC45A4_ENST00000519067.1_Missense_Mutation_p.I664M	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGTTGGGATAGATCACCAGGA	0.647																																																	0													51.0	53.0	52.0					8																	142222452		2203	4300	6503	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1992C>G	8.37:g.142222452G>C	ENSP00000024061:p.Ile664Met		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.I715M	ENST00000024061.3	37	c.2145	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690667	0.68271	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	M	0.78049	2.395	0.51012	D	0.999902	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	D	0.85420	0.1142	10	0.41790	T	0.15	-45.1855	6.2671	0.20932	0.2226:0.0:0.7774:0.0	.	715;664;664	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	M	664;715;657;664	ENSP00000429059:I664M;ENSP00000428137:I715M;ENSP00000400799:I657M;ENSP00000024061:I664M	ENSP00000024061:I664M	I	-	3	3	SLC45A4	142291634	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.961000	0.40432	2.453000	0.82957	0.655000	0.94253	ATC	SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.647	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	-	0.00	68	0	G	XM_050325		142222452	-1	tier1	-	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	C
SLC45A4	57210	genome.wustl.edu	37	8	142222452	142222452	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:142222452G>C	ENST00000024061.3	-	7	2299	c.1992C>G	c.(1990-1992)atC>atG	p.I664M	SLC45A4_ENST00000517878.1_Missense_Mutation_p.I715M|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I657M|SLC45A4_ENST00000519067.1_Missense_Mutation_p.I664M	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGTTGGGATAGATCACCAGGA	0.647																																																	0													51.0	53.0	52.0					8																	142222452		2203	4300	6503	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1992C>G	8.37:g.142222452G>C	ENSP00000024061:p.Ile664Met		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.I715M	ENST00000024061.3	37	c.2145	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690667	0.68271	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	M	0.78049	2.395	0.51012	D	0.999902	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	D	0.85420	0.1142	10	0.41790	T	0.15	-45.1855	6.2671	0.20932	0.2226:0.0:0.7774:0.0	.	715;664;664	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	M	664;715;657;664	ENSP00000429059:I664M;ENSP00000428137:I715M;ENSP00000400799:I657M;ENSP00000024061:I664M	ENSP00000024061:I664M	I	-	3	3	SLC45A4	142291634	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.961000	0.40432	2.453000	0.82957	0.655000	0.94253	ATC	SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.647	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	-	0.00	87	0	G	XM_050325		142222452	-1	tier1	-	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	C
SLC6A15	55117	genome.wustl.edu	37	12	85267002	85267002	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:85267002T>G	ENST00000266682.5	-	7	1514	c.973A>C	c.(973-975)Aag>Cag	p.K325Q	SLC6A15_ENST00000552192.1_Missense_Mutation_p.K218Q|SLC6A15_ENST00000309283.7_Missense_Mutation_p.K33Q|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	325					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTGTCTCTCTTGTTGTAGCTT	0.463																																																	0													167.0	160.0	162.0					12																	85267002		2203	4300	6503	SO:0001583	missense	0			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.973A>C	12.37:g.85267002T>G	ENSP00000266682:p.Lys325Gln		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.K325Q	ENST00000266682.5	37	c.973	CCDS9026.1	12	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231988	0.79688	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818;ENST00000551612	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.51	5.51	0.81932	.	0.041854	0.85682	D	0.000000	D	0.85457	0.5701	L	0.57130	1.785	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.72625	0.931;0.978	D	0.85147	0.0984	10	0.42905	T	0.14	.	15.9211	0.79575	0.0:0.0:0.0:1.0	.	33;325	F8WJN6;Q9H2J7	.;S6A15_HUMAN	Q	33;325;41;218;33;41	ENSP00000311645:K33Q;ENSP00000266682:K325Q;ENSP00000450145:K218Q;ENSP00000449263:K41Q	ENSP00000266682:K325Q	K	-	1	0	SLC6A15	83791133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.210000	0.71456	0.533000	0.62120	AAG	SLC6A15	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000072041		0.463	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A15	HGNC	protein_coding	OTTHUMT00000405678.1	-	0.00	132	0	T	NM_018057, NM_182767		85267002	-1	tier1	-	no_errors	ENST00000266682	ensembl	human	known	74_37	missense	6.36	103	7	SNP	1.000	G
SLC6A15	55117	genome.wustl.edu	37	12	85267002	85267002	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:85267002T>G	ENST00000266682.5	-	7	1514	c.973A>C	c.(973-975)Aag>Cag	p.K325Q	SLC6A15_ENST00000552192.1_Missense_Mutation_p.K218Q|SLC6A15_ENST00000309283.7_Missense_Mutation_p.K33Q|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	325					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTGTCTCTCTTGTTGTAGCTT	0.463																																																	0													167.0	160.0	162.0					12																	85267002		2203	4300	6503	SO:0001583	missense	0			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.973A>C	12.37:g.85267002T>G	ENSP00000266682:p.Lys325Gln		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.K325Q	ENST00000266682.5	37	c.973	CCDS9026.1	12	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231988	0.79688	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818;ENST00000551612	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.51	5.51	0.81932	.	0.041854	0.85682	D	0.000000	D	0.85457	0.5701	L	0.57130	1.785	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.72625	0.931;0.978	D	0.85147	0.0984	10	0.42905	T	0.14	.	15.9211	0.79575	0.0:0.0:0.0:1.0	.	33;325	F8WJN6;Q9H2J7	.;S6A15_HUMAN	Q	33;325;41;218;33;41	ENSP00000311645:K33Q;ENSP00000266682:K325Q;ENSP00000450145:K218Q;ENSP00000449263:K41Q	ENSP00000266682:K325Q	K	-	1	0	SLC6A15	83791133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.210000	0.71456	0.533000	0.62120	AAG	SLC6A15	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000072041		0.463	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A15	HGNC	protein_coding	OTTHUMT00000405678.1	-	0.00	85	0	T	NM_018057, NM_182767		85267002	-1	tier1	-	no_errors	ENST00000266682	ensembl	human	known	74_37	missense	6.36	103	7	SNP	1.000	G
SLC7A11	23657	genome.wustl.edu	37	4	139153457	139153457	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:139153457C>T	ENST00000280612.5	-	3	763	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	162					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ATCGCAAGTTCAGGGATTTCA	0.358																																																	0													73.0	72.0	72.0					4																	139153457		2203	4300	6503	SO:0001583	missense	0			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.484G>A	4.37:g.139153457C>T	ENSP00000280612:p.Glu162Lys		A8K2U4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.E162K	ENST00000280612.5	37	c.484	CCDS3742.1	4	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473137	0.43942	.	.	ENSG00000151012	ENST00000280612	D	0.89485	-2.52	5.64	4.8	0.61643	Amino acid permease domain (1);	0.472228	0.25122	N	0.032964	D	0.84488	0.5483	L	0.52011	1.625	0.42116	D	0.991403	B	0.02656	0.0	B	0.10450	0.005	T	0.78502	-0.2179	10	0.09084	T	0.74	.	14.5678	0.68191	0.0:0.9297:0.0:0.0703	.	162	Q9UPY5	XCT_HUMAN	K	162	ENSP00000280612:E162K	ENSP00000280612:E162K	E	-	1	0	SLC7A11	139372907	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.230000	0.51286	1.396000	0.46663	0.655000	0.94253	GAA	SLC7A11	-	pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000151012		0.358	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A11	HGNC	protein_coding	OTTHUMT00000257251.2	-	0.00	57	0	C			139153457	-1	tier1	-	no_errors	ENST00000280612	ensembl	human	known	74_37	missense	20.83	38	10	SNP	0.996	T
SLC7A11	23657	genome.wustl.edu	37	4	139153457	139153457	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:139153457C>T	ENST00000280612.5	-	3	763	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	162					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ATCGCAAGTTCAGGGATTTCA	0.358																																																	0													73.0	72.0	72.0					4																	139153457		2203	4300	6503	SO:0001583	missense	0			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.484G>A	4.37:g.139153457C>T	ENSP00000280612:p.Glu162Lys		A8K2U4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.E162K	ENST00000280612.5	37	c.484	CCDS3742.1	4	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473137	0.43942	.	.	ENSG00000151012	ENST00000280612	D	0.89485	-2.52	5.64	4.8	0.61643	Amino acid permease domain (1);	0.472228	0.25122	N	0.032964	D	0.84488	0.5483	L	0.52011	1.625	0.42116	D	0.991403	B	0.02656	0.0	B	0.10450	0.005	T	0.78502	-0.2179	10	0.09084	T	0.74	.	14.5678	0.68191	0.0:0.9297:0.0:0.0703	.	162	Q9UPY5	XCT_HUMAN	K	162	ENSP00000280612:E162K	ENSP00000280612:E162K	E	-	1	0	SLC7A11	139372907	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.230000	0.51286	1.396000	0.46663	0.655000	0.94253	GAA	SLC7A11	-	pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000151012		0.358	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A11	HGNC	protein_coding	OTTHUMT00000257251.2	-	0.00	91	0	C			139153457	-1	tier1	-	no_errors	ENST00000280612	ensembl	human	known	74_37	missense	20.83	38	10	SNP	0.996	T
SLC9C1	285335	genome.wustl.edu	37	3	111988862	111988862	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:111988862T>G	ENST00000305815.5	-	7	928	c.676A>C	c.(676-678)Agt>Cgt	p.S226R	SLC9C1_ENST00000487372.1_Missense_Mutation_p.S226R	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	226					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGTTTTGAACTTAGAATTCCA	0.308																																																	0													65.0	71.0	69.0					3																	111988862		2203	4292	6495	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.676A>C	3.37:g.111988862T>G	ENSP00000306627:p.Ser226Arg		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S226R	ENST00000305815.5	37	c.676	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837496	0.32513	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.13657	2.57;2.57	5.9	3.4	0.38934	Cation/H+ exchanger (1);	0.711166	0.14006	N	0.347789	T	0.19327	0.0464	L	0.40543	1.245	0.09310	N	1	D;D	0.69078	0.997;0.966	P;P	0.56700	0.804;0.69	T	0.11421	-1.0588	10	0.25751	T	0.34	-0.7475	8.6723	0.34159	0.3034:0.0:0.0:0.6966	.	226;226	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	R	226	ENSP00000306627:S226R;ENSP00000420688:S226R	ENSP00000306627:S226R	S	-	1	0	SLC9A10	113471552	0.000000	0.05858	0.004000	0.12327	0.521000	0.34408	0.230000	0.17852	0.418000	0.25898	0.413000	0.27773	AGT	SLC9C1	-	pfam_Cation/H_exchanger	ENSG00000172139		0.308	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	-	0.00	110	0	T	NM_183061		111988862	-1	tier1	-	no_errors	ENST00000305815	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.006	G
SLC9C1	285335	genome.wustl.edu	37	3	111988862	111988862	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:111988862T>G	ENST00000305815.5	-	7	928	c.676A>C	c.(676-678)Agt>Cgt	p.S226R	SLC9C1_ENST00000487372.1_Missense_Mutation_p.S226R	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	226					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGTTTTGAACTTAGAATTCCA	0.308																																																	0													65.0	71.0	69.0					3																	111988862		2203	4292	6495	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.676A>C	3.37:g.111988862T>G	ENSP00000306627:p.Ser226Arg		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S226R	ENST00000305815.5	37	c.676	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837496	0.32513	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.13657	2.57;2.57	5.9	3.4	0.38934	Cation/H+ exchanger (1);	0.711166	0.14006	N	0.347789	T	0.19327	0.0464	L	0.40543	1.245	0.09310	N	1	D;D	0.69078	0.997;0.966	P;P	0.56700	0.804;0.69	T	0.11421	-1.0588	10	0.25751	T	0.34	-0.7475	8.6723	0.34159	0.3034:0.0:0.0:0.6966	.	226;226	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	R	226	ENSP00000306627:S226R;ENSP00000420688:S226R	ENSP00000306627:S226R	S	-	1	0	SLC9A10	113471552	0.000000	0.05858	0.004000	0.12327	0.521000	0.34408	0.230000	0.17852	0.418000	0.25898	0.413000	0.27773	AGT	SLC9C1	-	pfam_Cation/H_exchanger	ENSG00000172139		0.308	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	-	0.00	57	0	T	NM_183061		111988862	-1	tier1	-	no_errors	ENST00000305815	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.006	G
SLCO1B3	28234	genome.wustl.edu	37	12	21007980	21007980	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:21007980T>A	ENST00000381545.3	+	4	322	c.103T>A	c.(103-105)Tca>Aca	p.S35T	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S35T|LST3_ENST00000540229.1_Missense_Mutation_p.S35T|LST3_ENST00000381541.3_Missense_Mutation_p.S35T|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S35T|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S35T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	35					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	GGCAGCCCTGTCATTCAGCTA	0.318																																																	0													76.0	71.0	73.0					12																	21007980		2203	4300	6503	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.103T>A	12.37:g.21007980T>A	ENSP00000370956:p.Ser35Thr		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S35T	ENST00000381545.3	37	c.103	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	T	5.914	0.352781	0.11182	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;1.06;0.27;1.06	3.76	-2.04	0.07343	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.546018	0.19252	N	0.118885	T	0.37293	0.0998	N	0.21282	0.65	0.09310	N	1	B;B;B	0.31790	0.032;0.34;0.04	B;B;B	0.35931	0.044;0.214;0.074	T	0.26395	-1.0104	10	0.38643	T	0.18	.	6.4031	0.21650	0.2223:0.0:0.3287:0.449	.	35;35;35	F5H094;Q5JAR4;Q9NPD5	.;.;SO1B3_HUMAN	T	35	ENSP00000442000:S35T;ENSP00000261196:S35T;ENSP00000370956:S35T;ENSP00000451758:S35T;ENSP00000370952:S35T;ENSP00000441269:S35T;ENSP00000452013:S35T	ENSP00000370952:S35T	S	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	20899247	0.055000	0.20627	0.139000	0.22197	0.338000	0.28826	0.258000	0.18387	0.048000	0.15891	0.377000	0.23210	TCA	SLCO1B3	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.318	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0.00	41	0	T	NM_019844		21007980	+1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.002	A
SLCO1B3	28234	genome.wustl.edu	37	12	21007980	21007980	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:21007980T>A	ENST00000381545.3	+	4	322	c.103T>A	c.(103-105)Tca>Aca	p.S35T	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S35T|LST3_ENST00000540229.1_Missense_Mutation_p.S35T|LST3_ENST00000381541.3_Missense_Mutation_p.S35T|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S35T|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S35T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	35					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	GGCAGCCCTGTCATTCAGCTA	0.318																																																	0													76.0	71.0	73.0					12																	21007980		2203	4300	6503	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.103T>A	12.37:g.21007980T>A	ENSP00000370956:p.Ser35Thr		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S35T	ENST00000381545.3	37	c.103	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	T	5.914	0.352781	0.11182	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;1.06;0.27;1.06	3.76	-2.04	0.07343	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.546018	0.19252	N	0.118885	T	0.37293	0.0998	N	0.21282	0.65	0.09310	N	1	B;B;B	0.31790	0.032;0.34;0.04	B;B;B	0.35931	0.044;0.214;0.074	T	0.26395	-1.0104	10	0.38643	T	0.18	.	6.4031	0.21650	0.2223:0.0:0.3287:0.449	.	35;35;35	F5H094;Q5JAR4;Q9NPD5	.;.;SO1B3_HUMAN	T	35	ENSP00000442000:S35T;ENSP00000261196:S35T;ENSP00000370956:S35T;ENSP00000451758:S35T;ENSP00000370952:S35T;ENSP00000441269:S35T;ENSP00000452013:S35T	ENSP00000370952:S35T	S	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	20899247	0.055000	0.20627	0.139000	0.22197	0.338000	0.28826	0.258000	0.18387	0.048000	0.15891	0.377000	0.23210	TCA	SLCO1B3	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.318	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0.00	84	0	T	NM_019844		21007980	+1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.002	A
SLFN5	162394	genome.wustl.edu	37	17	33592830	33592830	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:33592830G>C	ENST00000299977.4	+	5	2747	c.2599G>C	c.(2599-2601)Gct>Cct	p.A867P	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	867					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGCCCCACCGGCTGGGGCCTA	0.468																																																	0													60.0	65.0	63.0					17																	33592830		2203	4300	6503	SO:0001583	missense	0			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2599G>C	17.37:g.33592830G>C	ENSP00000299977:p.Ala867Pro		Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.A867P	ENST00000299977.4	37	c.2599	CCDS32619.1	17	.	.	.	.	.	.	.	.	.	.	g	12.09	1.834848	0.32421	.	.	ENSG00000166750	ENST00000299977	D	0.83163	-1.69	3.28	0.958	0.19619	.	2.144180	0.02561	N	0.096751	T	0.74680	0.3748	L	0.35793	1.09	0.09310	N	1	P	0.44578	0.838	B	0.38655	0.278	T	0.65150	-0.6238	10	0.41790	T	0.15	.	5.2557	0.15546	0.0:0.2317:0.5304:0.2378	.	867	Q08AF3	SLFN5_HUMAN	P	867	ENSP00000299977:A867P	ENSP00000299977:A867P	A	+	1	0	SLFN5	30616943	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.706000	0.25690	0.684000	0.31448	-0.182000	0.12963	GCT	SLFN5	-	superfamily_P-loop_NTPase	ENSG00000166750		0.468	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	-	0.00	29	0	G	NM_144975		33592830	+1	tier1	-	no_errors	ENST00000299977	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.000	C
SLIT3	6586	genome.wustl.edu	37	5	168119626	168119626	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:168119626C>A	ENST00000519560.1	-	29	3581	c.3162G>T	c.(3160-3162)ctG>ctT	p.L1054L	SLIT3_ENST00000404867.3_Silent_p.L1054L|SLIT3_ENST00000332966.8_Silent_p.L1061L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1054	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTTTGTCCAGGGGGATGC	0.542																																					Ovarian(29;311 847 10864 17279 24903)												0													108.0	83.0	92.0					5																	168119626		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3162G>T	5.37:g.168119626C>A			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1054	ENST00000519560.1	37	c.3162	CCDS4369.1	5																																																																																			SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184347		0.542	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	-	0.00	43	0	C	NM_003062		168119626	-1	tier1	-	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	38.71	19	12	SNP	1.000	A
SLIT3	6586	genome.wustl.edu	37	5	168119626	168119626	+	Silent	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:168119626C>A	ENST00000519560.1	-	29	3581	c.3162G>T	c.(3160-3162)ctG>ctT	p.L1054L	SLIT3_ENST00000404867.3_Silent_p.L1054L|SLIT3_ENST00000332966.8_Silent_p.L1061L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1054	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTTTGTCCAGGGGGATGC	0.542																																					Ovarian(29;311 847 10864 17279 24903)												0													108.0	83.0	92.0					5																	168119626		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3162G>T	5.37:g.168119626C>A			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1054	ENST00000519560.1	37	c.3162	CCDS4369.1	5																																																																																			SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184347		0.542	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	-	0.00	70	0	C	NM_003062		168119626	-1	tier1	-	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	38.71	19	12	SNP	1.000	A
SLIT3	6586	genome.wustl.edu	37	5	168119639	168119639	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:168119639T>G	ENST00000519560.1	-	29	3568	c.3149A>C	c.(3148-3150)aAg>aCg	p.K1050T	SLIT3_ENST00000404867.3_Missense_Mutation_p.K1050T|SLIT3_ENST00000332966.8_Missense_Mutation_p.K1057T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1050	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGGATGCACTTGGCCTCATG	0.552																																					Ovarian(29;311 847 10864 17279 24903)												0													118.0	88.0	99.0					5																	168119639		2203	4300	6503	SO:0001583	missense	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3149A>C	5.37:g.168119639T>G	ENSP00000430333:p.Lys1050Thr		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.K1050T	ENST00000519560.1	37	c.3149	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786344	0.49997	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.91894	-2.93;-2.93;-2.93	5.0	5.0	0.66597	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.044227	0.85682	D	0.000000	D	0.85362	0.5679	N	0.10874	0.06	0.80722	D	1	B	0.20671	0.047	B	0.32393	0.145	T	0.81564	-0.0875	10	0.35671	T	0.21	.	13.9061	0.63836	0.0:0.0:0.0:1.0	.	1050	O75094	SLIT3_HUMAN	T	1050;1057;1050	ENSP00000430333:K1050T;ENSP00000332164:K1057T;ENSP00000384890:K1050T	ENSP00000332164:K1057T	K	-	2	0	SLIT3	168052217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.443000	0.80521	1.881000	0.54492	0.528000	0.53228	AAG	SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184347		0.552	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0.00	63	0	T	NM_003062		168119639	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	G
SMAD4	4089	genome.wustl.edu	37	18	48591805	48591805	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:48591805G>T	ENST00000342988.3	+	9	1506	c.968G>T	c.(967-969)tGg>tTg	p.W323L	SMAD4_ENST00000398417.2_Missense_Mutation_p.W323L|SMAD4_ENST00000588745.1_Missense_Mutation_p.W227L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	323	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.W323fs*11(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCTGAGTATTGGTGTTCCATT	0.408																																																	39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|small_intestine(1)|oesophagus(1)											244.0	211.0	222.0					18																	48591805		2203	4300	6503	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.968G>T	18.37:g.48591805G>T	ENSP00000341551:p.Trp323Leu		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.W323L	ENST00000342988.3	37	c.968	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	G	32	5.155142	0.94686	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.99879	-7.44;-7.44	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99923	0.9964	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96499	0.9370	10	0.87932	D	0	.	19.2492	0.93917	0.0:0.0:1.0:0.0	.	323	Q13485	SMAD4_HUMAN	L	323	ENSP00000341551:W323L;ENSP00000381452:W323L	ENSP00000341551:W323L	W	+	2	0	SMAD4	46845803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.676000	0.98643	2.840000	0.97914	0.655000	0.94253	TGG	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.408	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3		0.00	68	0	G	NM_005359		48591805	+1			no_errors	ENST00000342988	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
SMARCA2	6595	genome.wustl.edu	37	9	2033024	2033024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:2033024C>T	ENST00000382203.1	+	3	507	c.298C>T	c.(298-300)Cga>Tga	p.R100*	SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.R100*|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.R100*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.R100*			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	100					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CACTGGTATGCGACCACCTCA	0.502																																																	0													142.0	117.0	125.0					9																	2033024		2203	4300	6503	SO:0001587	stop_gained	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.298C>T	9.37:g.2033024C>T	ENSP00000371638:p.Arg100*		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R100*	ENST00000382203.1	37	c.298	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.243167	0.98722	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000439732;ENST00000382203;ENST00000382194	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6053	14.844	0.70246	0.1437:0.8562:0.0:0.0	.	.	.	.	X	100	.	ENSP00000265773:R100X	R	+	1	2	SMARCA2	2023024	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.062000	0.57492	2.737000	0.93849	0.563000	0.77884	CGA	SMARCA2	-	NULL	ENSG00000080503		0.502	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	-	0.00	80	0	C	NM_003070		2033024	+1	tier1	-	no_errors	ENST00000349721	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	1.000	T
SMARCA4	6597	genome.wustl.edu	37	19	11144051	11144051	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:11144051A>C	ENST00000429416.3	+	27	3913	c.3632A>C	c.(3631-3633)gAg>gCg	p.E1211A	SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1211A|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1211A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1211A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1211A|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E1211A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1211A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1211A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1211A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1211	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AACAGCGTGGAGGAGAAGATC	0.632			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											108.0	105.0	106.0					19																	11144051		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3632A>C	19.37:g.11144051A>C	ENSP00000395654:p.Glu1211Ala		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.E1211A	ENST00000429416.3	37	c.3632	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188339	0.78789	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.127308	0.51477	D	0.000084	D	0.95912	0.8669	H	0.99634	4.67	0.58432	D	0.999997	D;D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;0.758	D;D;D;D;D;D;P	0.87578	0.994;0.994;0.994;0.994;0.97;0.998;0.786	D	0.97352	0.9964	10	0.87932	D	0	-32.4088	13.3948	0.60846	1.0:0.0:0.0:0.0	.	1211;1211;1211;1211;1211;431;1211	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	A	1211;1211;1275;1211;1211;1211;1211;1211	ENSP00000395654:E1211A;ENSP00000350720:E1211A;ENSP00000343896:E1211A;ENSP00000445036:E1211A;ENSP00000392837:E1211A;ENSP00000397783:E1211A;ENSP00000414727:E1211A	ENSP00000343896:E1211A	E	+	2	0	SMARCA4	11005051	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.821000	0.92009	2.012000	0.59069	0.456000	0.33151	GAG	SMARCA4	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000127616		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0.00	61	0	A	NM_003072		11144051	+1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	C
SMARCA4	6597	genome.wustl.edu	37	19	11144051	11144051	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:11144051A>C	ENST00000429416.3	+	27	3913	c.3632A>C	c.(3631-3633)gAg>gCg	p.E1211A	SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1211A|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1211A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1211A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1211A|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E1211A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1211A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1211A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1211A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1211	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AACAGCGTGGAGGAGAAGATC	0.632			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											108.0	105.0	106.0					19																	11144051		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3632A>C	19.37:g.11144051A>C	ENSP00000395654:p.Glu1211Ala		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.E1211A	ENST00000429416.3	37	c.3632	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188339	0.78789	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.127308	0.51477	D	0.000084	D	0.95912	0.8669	H	0.99634	4.67	0.58432	D	0.999997	D;D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;0.758	D;D;D;D;D;D;P	0.87578	0.994;0.994;0.994;0.994;0.97;0.998;0.786	D	0.97352	0.9964	10	0.87932	D	0	-32.4088	13.3948	0.60846	1.0:0.0:0.0:0.0	.	1211;1211;1211;1211;1211;431;1211	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	A	1211;1211;1275;1211;1211;1211;1211;1211	ENSP00000395654:E1211A;ENSP00000350720:E1211A;ENSP00000343896:E1211A;ENSP00000445036:E1211A;ENSP00000392837:E1211A;ENSP00000397783:E1211A;ENSP00000414727:E1211A	ENSP00000343896:E1211A	E	+	2	0	SMARCA4	11005051	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.821000	0.92009	2.012000	0.59069	0.456000	0.33151	GAG	SMARCA4	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000127616		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0.00	71	0	A	NM_003072		11144051	+1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	C
SMURF2	64750	genome.wustl.edu	37	17	62567980	62567980	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:62567980G>T	ENST00000262435.9	-	10	1139	c.952C>A	c.(952-954)Cat>Aat	p.H318N	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	318	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CTGTTGTTATGGTCAACGAAA	0.398																																																	0													126.0	113.0	117.0					17																	62567980		2203	4300	6503	SO:0001583	missense	0			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.952C>A	17.37:g.62567980G>T	ENSP00000262435:p.His318Asn		Q52LL1|Q9H260	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.H318N	ENST00000262435.9	37	c.952	CCDS32707.1	17	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914321	0.52546	.	.	ENSG00000108854	ENST00000262435	D	0.84800	-1.9	5.5	5.5	0.81552	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.95771	0.8624	H	0.98218	4.175	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97259	0.9903	10	0.87932	D	0	.	19.3935	0.94596	0.0:0.0:1.0:0.0	.	318	Q9HAU4	SMUF2_HUMAN	N	318	ENSP00000262435:H318N	ENSP00000262435:H318N	H	-	1	0	SMURF2	59998442	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.773000	0.98989	2.584000	0.87258	0.585000	0.79938	CAT	SMURF2	-	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	ENSG00000108854		0.398	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	-	0.00	49	0	G	NM_022739		62567980	-1	tier1	-	no_errors	ENST00000262435	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
SMURF2	64750	genome.wustl.edu	37	17	62567980	62567980	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:62567980G>T	ENST00000262435.9	-	10	1139	c.952C>A	c.(952-954)Cat>Aat	p.H318N	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	318	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CTGTTGTTATGGTCAACGAAA	0.398																																																	0													126.0	113.0	117.0					17																	62567980		2203	4300	6503	SO:0001583	missense	0			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.952C>A	17.37:g.62567980G>T	ENSP00000262435:p.His318Asn		Q52LL1|Q9H260	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.H318N	ENST00000262435.9	37	c.952	CCDS32707.1	17	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914321	0.52546	.	.	ENSG00000108854	ENST00000262435	D	0.84800	-1.9	5.5	5.5	0.81552	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.95771	0.8624	H	0.98218	4.175	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97259	0.9903	10	0.87932	D	0	.	19.3935	0.94596	0.0:0.0:1.0:0.0	.	318	Q9HAU4	SMUF2_HUMAN	N	318	ENSP00000262435:H318N	ENSP00000262435:H318N	H	-	1	0	SMURF2	59998442	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.773000	0.98989	2.584000	0.87258	0.585000	0.79938	CAT	SMURF2	-	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	ENSG00000108854		0.398	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	-	0.00	80	0	G	NM_022739		62567980	-1	tier1	-	no_errors	ENST00000262435	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
SNAI1	6615	genome.wustl.edu	37	20	48604467	48604467	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:48604467G>A	ENST00000244050.2	+	3	730	c.669G>A	c.(667-669)ctG>ctA	p.L223L		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	223	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCTCCAACCTGCGGGCCCACC	0.627																																																	0													114.0	97.0	103.0					20																	48604467		2203	4300	6503	SO:0001819	synonymous_variant	0			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.669G>A	20.37:g.48604467G>A			B2R842|Q9P113|Q9UBP7|Q9UHH7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L223	ENST00000244050.2	37	c.669	CCDS13423.1	20																																																																																			SNAI1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124216		0.627	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	HGNC	protein_coding	OTTHUMT00000080350.1		0.00	68	0	G			48604467	+1			no_errors	ENST00000244050	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.993	A
SNHG14	104472715	genome.wustl.edu	37	15	25351694	25351694	+	RNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:25351694A>G	ENST00000546682.1	+	0	3911				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000516123.1_RNA|SNORD116-30_ENST00000516468.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-29_ENST00000384516.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAAAAAATGGAAACCTTGGAA	0.468																																																	0													88.0	84.0	85.0					15																	25351694		876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25351694A>G				RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-29	-	-	ENSG00000207245		0.468	SNHG14-022	KNOWN	basic	antisense	SNORD116-29	HGNC	processed_transcript	OTTHUMT00000408281.1	-	0.00	102	0	A			25351694	+1	tier1	-	no_errors	ENST00000384516	ensembl	human	known	74_37	rna	22.22	49	14	SNP	0.000	G
SNHG14	104472715	genome.wustl.edu	37	15	25351694	25351694	+	RNA	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:25351694A>G	ENST00000546682.1	+	0	3911				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000516123.1_RNA|SNORD116-30_ENST00000516468.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-29_ENST00000384516.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAAAAAATGGAAACCTTGGAA	0.468																																																	0													88.0	84.0	85.0					15																	25351694		876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25351694A>G				RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-29	-	-	ENSG00000207245		0.468	SNHG14-022	KNOWN	basic	antisense	SNORD116-29	HGNC	processed_transcript	OTTHUMT00000408281.1	-	0.00	123	0	A			25351694	+1	tier1	-	no_errors	ENST00000384516	ensembl	human	known	74_37	rna	22.22	49	14	SNP	0.000	G
SNRNP48	154007	genome.wustl.edu	37	6	7605703	7605703	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:7605703G>A	ENST00000342415.5	+	7	849	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	264					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGAGAAGGCAGAGGATGATGC	0.368																																																	0													120.0	103.0	109.0					6																	7605703		2203	4300	6503	SO:0001583	missense	0			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.790G>A	6.37:g.7605703G>A	ENSP00000339834:p.Glu264Lys		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.E264K	ENST00000342415.5	37	c.790	CCDS4502.1	6	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214493	0.39102	.	.	ENSG00000168566	ENST00000342415	T	0.33438	1.41	5.94	5.05	0.67936	.	0.636414	0.16674	N	0.204240	T	0.06234	0.0161	L	0.33485	1.01	0.09310	N	1	P	0.35433	0.501	B	0.27608	0.081	T	0.19451	-1.0305	10	0.09084	T	0.74	-9.3997	8.355	0.32324	0.0812:0.1577:0.761:0.0	.	264	Q6IEG0	SNR48_HUMAN	K	264	ENSP00000339834:E264K	ENSP00000339834:E264K	E	+	1	0	SNRNP48	7550702	0.998000	0.40836	0.005000	0.12908	0.386000	0.30323	4.044000	0.57361	1.471000	0.48121	0.561000	0.74099	GAG	SNRNP48	-	NULL	ENSG00000168566		0.368	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP48	HGNC	protein_coding	OTTHUMT00000039787.3	-	0.00	61	0	G	NM_152551		7605703	+1	tier1	-	no_errors	ENST00000342415	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.053	A
SNRNP48	154007	genome.wustl.edu	37	6	7605703	7605703	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:7605703G>A	ENST00000342415.5	+	7	849	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	264					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGAGAAGGCAGAGGATGATGC	0.368																																																	0													120.0	103.0	109.0					6																	7605703		2203	4300	6503	SO:0001583	missense	0			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.790G>A	6.37:g.7605703G>A	ENSP00000339834:p.Glu264Lys		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.E264K	ENST00000342415.5	37	c.790	CCDS4502.1	6	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214493	0.39102	.	.	ENSG00000168566	ENST00000342415	T	0.33438	1.41	5.94	5.05	0.67936	.	0.636414	0.16674	N	0.204240	T	0.06234	0.0161	L	0.33485	1.01	0.09310	N	1	P	0.35433	0.501	B	0.27608	0.081	T	0.19451	-1.0305	10	0.09084	T	0.74	-9.3997	8.355	0.32324	0.0812:0.1577:0.761:0.0	.	264	Q6IEG0	SNR48_HUMAN	K	264	ENSP00000339834:E264K	ENSP00000339834:E264K	E	+	1	0	SNRNP48	7550702	0.998000	0.40836	0.005000	0.12908	0.386000	0.30323	4.044000	0.57361	1.471000	0.48121	0.561000	0.74099	GAG	SNRNP48	-	NULL	ENSG00000168566		0.368	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP48	HGNC	protein_coding	OTTHUMT00000039787.3	-	0.00	84	0	G	NM_152551		7605703	+1	tier1	-	no_errors	ENST00000342415	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.053	A
SOBP	55084	genome.wustl.edu	37	6	107955088	107955088	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:107955088C>T	ENST00000317357.5	+	6	1699	c.1040C>T	c.(1039-1041)aCg>aTg	p.T347M		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AAAATCCCCACGCCAGTGCCC	0.637																																																	0													93.0	106.0	101.0					6																	107955088		2053	4191	6244	SO:0001583	missense	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1040C>T	6.37:g.107955088C>T	ENSP00000318900:p.Thr347Met			Missense_Mutation	SNP	NULL	p.T347M	ENST00000317357.5	37	c.1040	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842190	0.71488	.	.	ENSG00000112320	ENST00000317357	T	0.35236	1.32	5.7	5.7	0.88788	.	0.064361	0.64402	D	0.000007	T	0.48277	0.1491	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45101	-0.9284	10	0.62326	D	0.03	-13.528	19.8218	0.96599	0.0:1.0:0.0:0.0	.	347	A7XYQ1	SOBP_HUMAN	M	347	ENSP00000318900:T347M	ENSP00000318900:T347M	T	+	2	0	SOBP	108061781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.448000	0.66612	2.678000	0.91216	0.655000	0.94253	ACG	SOBP	-	NULL	ENSG00000112320		0.637	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	-	0.00	31	0	C	NM_018013		107955088	+1	tier1	-	no_errors	ENST00000317357	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T
SOBP	55084	genome.wustl.edu	37	6	107955088	107955088	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:107955088C>T	ENST00000317357.5	+	6	1699	c.1040C>T	c.(1039-1041)aCg>aTg	p.T347M		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AAAATCCCCACGCCAGTGCCC	0.637																																																	0													93.0	106.0	101.0					6																	107955088		2053	4191	6244	SO:0001583	missense	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1040C>T	6.37:g.107955088C>T	ENSP00000318900:p.Thr347Met			Missense_Mutation	SNP	NULL	p.T347M	ENST00000317357.5	37	c.1040	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842190	0.71488	.	.	ENSG00000112320	ENST00000317357	T	0.35236	1.32	5.7	5.7	0.88788	.	0.064361	0.64402	D	0.000007	T	0.48277	0.1491	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45101	-0.9284	10	0.62326	D	0.03	-13.528	19.8218	0.96599	0.0:1.0:0.0:0.0	.	347	A7XYQ1	SOBP_HUMAN	M	347	ENSP00000318900:T347M	ENSP00000318900:T347M	T	+	2	0	SOBP	108061781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.448000	0.66612	2.678000	0.91216	0.655000	0.94253	ACG	SOBP	-	NULL	ENSG00000112320		0.637	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	-	0.00	53	0	C	NM_018013		107955088	+1	tier1	-	no_errors	ENST00000317357	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T
SOCS4	122809	genome.wustl.edu	37	14	55510261	55510261	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:55510261C>G	ENST00000395472.2	+	2	834	c.502C>G	c.(502-504)Cag>Gag	p.Q168E	SOCS4_ENST00000555846.1_Missense_Mutation_p.Q168E|SOCS4_ENST00000339298.2_Missense_Mutation_p.Q168E	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	168					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AGACTTGTCTCAGACTGAATT	0.403																																																	0													71.0	67.0	68.0					14																	55510261		2203	4300	6503	SO:0001583	missense	0			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.502C>G	14.37:g.55510261C>G	ENSP00000378855:p.Gln168Glu			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.Q168E	ENST00000395472.2	37	c.502	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	C	0.230	-1.021923	0.02061	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.28255	1.62;1.62;1.62	5.45	1.15	0.20763	.	1.204460	0.05763	N	0.605197	T	0.16428	0.0395	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25328	-1.0135	10	0.21540	T	0.41	-0.0443	13.3427	0.60553	0.0:0.3911:0.5389:0.07	.	168	Q8WXH5	SOCS4_HUMAN	E	168	ENSP00000378855:Q168E;ENSP00000452522:Q168E;ENSP00000341327:Q168E	ENSP00000341327:Q168E	Q	+	1	0	SOCS4	54580014	0.001000	0.12720	0.148000	0.22405	0.729000	0.41735	0.541000	0.23207	0.353000	0.24079	0.650000	0.86243	CAG	SOCS4	-	NULL	ENSG00000180008		0.403	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	-	0.00	56	0	C			55510261	+1	tier1	-	no_errors	ENST00000339298	ensembl	human	known	74_37	missense	40.54	44	30	SNP	0.007	G
SOCS4	122809	genome.wustl.edu	37	14	55510261	55510261	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:55510261C>G	ENST00000395472.2	+	2	834	c.502C>G	c.(502-504)Cag>Gag	p.Q168E	SOCS4_ENST00000555846.1_Missense_Mutation_p.Q168E|SOCS4_ENST00000339298.2_Missense_Mutation_p.Q168E	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	168					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AGACTTGTCTCAGACTGAATT	0.403																																																	0													71.0	67.0	68.0					14																	55510261		2203	4300	6503	SO:0001583	missense	0			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.502C>G	14.37:g.55510261C>G	ENSP00000378855:p.Gln168Glu			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.Q168E	ENST00000395472.2	37	c.502	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	C	0.230	-1.021923	0.02061	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.28255	1.62;1.62;1.62	5.45	1.15	0.20763	.	1.204460	0.05763	N	0.605197	T	0.16428	0.0395	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25328	-1.0135	10	0.21540	T	0.41	-0.0443	13.3427	0.60553	0.0:0.3911:0.5389:0.07	.	168	Q8WXH5	SOCS4_HUMAN	E	168	ENSP00000378855:Q168E;ENSP00000452522:Q168E;ENSP00000341327:Q168E	ENSP00000341327:Q168E	Q	+	1	0	SOCS4	54580014	0.001000	0.12720	0.148000	0.22405	0.729000	0.41735	0.541000	0.23207	0.353000	0.24079	0.650000	0.86243	CAG	SOCS4	-	NULL	ENSG00000180008		0.403	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	-	0.00	76	0	C			55510261	+1	tier1	-	no_errors	ENST00000339298	ensembl	human	known	74_37	missense	40.54	44	30	SNP	0.007	G
SORCS3	22986	genome.wustl.edu	37	10	106960907	106960907	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:106960907A>C	ENST00000369701.3	+	16	2384	c.2157A>C	c.(2155-2157)aaA>aaC	p.K719N	SORCS3_ENST00000369699.4_Missense_Mutation_p.K5N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	719					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGAAAGGAAAATATTCAAGA	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)												0													98.0	88.0	91.0					10																	106960907		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2157A>C	10.37:g.106960907A>C	ENSP00000358715:p.Lys719Asn		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.K719N	ENST00000369701.3	37	c.2157	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	A	17.26	3.344226	0.61073	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.30714	1.55;1.52	5.78	4.66	0.58398	VPS10 (1);	0.054013	0.85682	D	0.000000	T	0.23094	0.0558	L	0.43152	1.355	0.37202	D	0.904438	P	0.42827	0.791	B	0.38616	0.277	T	0.11665	-1.0578	9	.	.	.	.	7.6507	0.28346	0.8534:0.0:0.1466:0.0	.	719	Q9UPU3	SORC3_HUMAN	N	719;5	ENSP00000358715:K719N;ENSP00000358713:K5N	.	K	+	3	2	SORCS3	106950897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.635000	0.46537	2.208000	0.71279	0.528000	0.53228	AAA	SORCS3	-	smart_VPS10	ENSG00000156395		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0.00	57	0	A	NM_014978		106960907	+1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	C
SORCS3	22986	genome.wustl.edu	37	10	106960907	106960907	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:106960907A>C	ENST00000369701.3	+	16	2384	c.2157A>C	c.(2155-2157)aaA>aaC	p.K719N	SORCS3_ENST00000369699.4_Missense_Mutation_p.K5N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	719					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGAAAGGAAAATATTCAAGA	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)												0													98.0	88.0	91.0					10																	106960907		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2157A>C	10.37:g.106960907A>C	ENSP00000358715:p.Lys719Asn		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.K719N	ENST00000369701.3	37	c.2157	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	A	17.26	3.344226	0.61073	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.30714	1.55;1.52	5.78	4.66	0.58398	VPS10 (1);	0.054013	0.85682	D	0.000000	T	0.23094	0.0558	L	0.43152	1.355	0.37202	D	0.904438	P	0.42827	0.791	B	0.38616	0.277	T	0.11665	-1.0578	9	.	.	.	.	7.6507	0.28346	0.8534:0.0:0.1466:0.0	.	719	Q9UPU3	SORC3_HUMAN	N	719;5	ENSP00000358715:K719N;ENSP00000358713:K5N	.	K	+	3	2	SORCS3	106950897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.635000	0.46537	2.208000	0.71279	0.528000	0.53228	AAA	SORCS3	-	smart_VPS10	ENSG00000156395		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0.00	70	0	A	NM_014978		106960907	+1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	C
SORL1	6653	genome.wustl.edu	37	11	121393350	121393350	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:121393350T>A	ENST00000260197.7	+	10	1589	c.1460T>A	c.(1459-1461)cTc>cAc	p.L487H	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	487					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTCCTCAACCTCCAGCTCCGG	0.552																																																	0													170.0	154.0	159.0					11																	121393350		2203	4299	6502	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1460T>A	11.37:g.121393350T>A	ENSP00000260197:p.Leu487His		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L487H	ENST00000260197.7	37	c.1460	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030280	0.75504	.	.	ENSG00000137642	ENST00000260197	T	0.33438	1.41	5.48	5.48	0.80851	VPS10 (1);	0.537430	0.19487	N	0.113092	T	0.22360	0.0539	N	0.14661	0.345	0.80722	D	1	P	0.40875	0.731	B	0.38712	0.28	T	0.09378	-1.0677	10	0.87932	D	0	.	15.5633	0.76269	0.0:0.0:0.0:1.0	.	487	Q92673	SORL_HUMAN	H	487	ENSP00000260197:L487H	ENSP00000260197:L487H	L	+	2	0	SORL1	120898560	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.685000	0.84117	2.077000	0.62373	0.482000	0.46254	CTC	SORL1	-	smart_VPS10	ENSG00000137642		0.552	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	-	0.00	53	0	T	NM_003105		121393350	+1	tier1	-	no_errors	ENST00000260197	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	A
SORL1	6653	genome.wustl.edu	37	11	121393350	121393350	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:121393350T>A	ENST00000260197.7	+	10	1589	c.1460T>A	c.(1459-1461)cTc>cAc	p.L487H	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	487					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTCCTCAACCTCCAGCTCCGG	0.552																																																	0													170.0	154.0	159.0					11																	121393350		2203	4299	6502	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1460T>A	11.37:g.121393350T>A	ENSP00000260197:p.Leu487His		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L487H	ENST00000260197.7	37	c.1460	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030280	0.75504	.	.	ENSG00000137642	ENST00000260197	T	0.33438	1.41	5.48	5.48	0.80851	VPS10 (1);	0.537430	0.19487	N	0.113092	T	0.22360	0.0539	N	0.14661	0.345	0.80722	D	1	P	0.40875	0.731	B	0.38712	0.28	T	0.09378	-1.0677	10	0.87932	D	0	.	15.5633	0.76269	0.0:0.0:0.0:1.0	.	487	Q92673	SORL_HUMAN	H	487	ENSP00000260197:L487H	ENSP00000260197:L487H	L	+	2	0	SORL1	120898560	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.685000	0.84117	2.077000	0.62373	0.482000	0.46254	CTC	SORL1	-	smart_VPS10	ENSG00000137642		0.552	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	-	0.00	63	0	T	NM_003105		121393350	+1	tier1	-	no_errors	ENST00000260197	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	A
SOX5	6660	genome.wustl.edu	37	12	23687309	23687309	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:23687309A>C	ENST00000451604.2	-	15	2237	c.2136T>G	c.(2134-2136)acT>acG	p.T712T	SOX5_ENST00000537393.1_Silent_p.T677T|SOX5_ENST00000541536.1_Silent_p.T591T|SOX5_ENST00000545921.1_Silent_p.T702T|SOX5_ENST00000396007.2_Silent_p.T326T|SOX5_ENST00000381381.2_Silent_p.T591T|SOX5_ENST00000309359.1_Silent_p.T699T|SOX5_ENST00000546136.1_Silent_p.T699T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	712					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCACACCGTAAGTGCTCTGGA	0.542																																																	0													148.0	126.0	133.0					12																	23687309		2203	4300	6503	SO:0001819	synonymous_variant	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2136T>G	12.37:g.23687309A>C			B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.T712	ENST00000451604.2	37	c.2136	CCDS8699.1	12																																																																																			SOX5	-	NULL	ENSG00000134532		0.542	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	-	0.00	37	0	A	NM_006940		23687309	-1	tier1	-	no_errors	ENST00000451604	ensembl	human	known	74_37	silent	35.00	26	14	SNP	1.000	C
SOX5	6660	genome.wustl.edu	37	12	23687309	23687309	+	Silent	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:23687309A>C	ENST00000451604.2	-	15	2237	c.2136T>G	c.(2134-2136)acT>acG	p.T712T	SOX5_ENST00000537393.1_Silent_p.T677T|SOX5_ENST00000541536.1_Silent_p.T591T|SOX5_ENST00000545921.1_Silent_p.T702T|SOX5_ENST00000396007.2_Silent_p.T326T|SOX5_ENST00000381381.2_Silent_p.T591T|SOX5_ENST00000309359.1_Silent_p.T699T|SOX5_ENST00000546136.1_Silent_p.T699T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	712					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCACACCGTAAGTGCTCTGGA	0.542																																																	0													148.0	126.0	133.0					12																	23687309		2203	4300	6503	SO:0001819	synonymous_variant	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2136T>G	12.37:g.23687309A>C			B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.T712	ENST00000451604.2	37	c.2136	CCDS8699.1	12																																																																																			SOX5	-	NULL	ENSG00000134532		0.542	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	-	0.00	54	0	A	NM_006940		23687309	-1	tier1	-	no_errors	ENST00000451604	ensembl	human	known	74_37	silent	35.00	26	14	SNP	1.000	C
SPATA31A3	727830	genome.wustl.edu	37	9	40702808	40702808	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:40702808G>A	ENST00000356699.5	+	4	494	c.465G>A	c.(463-465)ccG>ccA	p.P155P	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	155	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P155P(2)									TAGCTTCCCCGGATCCTCAAG	0.597																																																	2	Substitution - coding silent(2)	lung(2)											66.0	78.0	74.0					9																	40702808		1946	4119	6065	SO:0001819	synonymous_variant	0					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.465G>A	9.37:g.40702808G>A				Silent	SNP	NULL	p.P155	ENST00000356699.5	37	c.465	CCDS47969.1	9																																																																																			SPATA31A3	-	NULL	ENSG00000147926		0.597	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A3	HGNC	protein_coding	OTTHUMT00000036919.1		0.00	360	0	G	NM_001083124		40702808	+1			no_errors	ENST00000356699	ensembl	human	known	74_37	silent	10.98	153	19	SNP	0.000	A
SPATA31D5P	347127	genome.wustl.edu	37	9	84532403	84532403	+	RNA	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:84532403C>G	ENST00000527857.1	+	0	2425					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CATCTTCAGACGAGGATCTGA	0.453																																																	0																																												0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532403C>G				RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			SPATA31D5P	-	-	ENSG00000240632		0.453	SPATA31D5P-002	KNOWN	basic	processed_transcript	SPATA31D5P	HGNC	pseudogene	OTTHUMT00000052810.2	-	0.00	123	0	C	NR_026851		84532403	+1	tier1	-	no_errors	ENST00000527857	ensembl	human	known	74_37	rna	15.20	106	19	SNP	0.000	G
SPATA31D5P	347127	genome.wustl.edu	37	9	84532403	84532403	+	RNA	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:84532403C>G	ENST00000527857.1	+	0	2425					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CATCTTCAGACGAGGATCTGA	0.453																																																	0																																												0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532403C>G				RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			SPATA31D5P	-	-	ENSG00000240632		0.453	SPATA31D5P-002	KNOWN	basic	processed_transcript	SPATA31D5P	HGNC	pseudogene	OTTHUMT00000052810.2	-	0.00	77	0	C	NR_026851		84532403	+1	tier1	-	no_errors	ENST00000527857	ensembl	human	known	74_37	rna	15.20	106	19	SNP	0.000	G
SPATS2L	26010	genome.wustl.edu	37	2	201284107	201284107	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:201284107C>T	ENST00000358677.5	+	6	580	c.333C>T	c.(331-333)tgC>tgT	p.C111C	SPATS2L_ENST00000409718.1_Silent_p.C111C|SPATS2L_ENST00000409140.3_Silent_p.C111C|SPATS2L_ENST00000451764.2_Silent_p.C111C|SPATS2L_ENST00000409755.3_Silent_p.C141C|SPATS2L_ENST00000409151.1_Silent_p.C119C|SPATS2L_ENST00000360760.5_Silent_p.C111C|SPATS2L_ENST00000409385.1_Silent_p.C51C|SPATS2L_ENST00000409988.3_Silent_p.C111C	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	111						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGAATGGCTGCGAGAAGGACA	0.522																																																	0													36.0	39.0	38.0					2																	201284107		1921	4136	6057	SO:0001819	synonymous_variant	0			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.333C>T	2.37:g.201284107C>T			A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	pfam_DUF1387,superfamily_UBA-like	p.C141	ENST00000358677.5	37	c.423	CCDS46483.1	2																																																																																			SPATS2L	-	pfam_DUF1387	ENSG00000196141		0.522	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2L	HGNC	protein_coding	OTTHUMT00000336208.3	-	0.00	44	0	C	NM_015535		201284107	+1	tier1	-	no_errors	ENST00000409755	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.715	T
SPATS2L	26010	genome.wustl.edu	37	2	201284107	201284107	+	Silent	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:201284107C>T	ENST00000358677.5	+	6	580	c.333C>T	c.(331-333)tgC>tgT	p.C111C	SPATS2L_ENST00000409718.1_Silent_p.C111C|SPATS2L_ENST00000409140.3_Silent_p.C111C|SPATS2L_ENST00000451764.2_Silent_p.C111C|SPATS2L_ENST00000409755.3_Silent_p.C141C|SPATS2L_ENST00000409151.1_Silent_p.C119C|SPATS2L_ENST00000360760.5_Silent_p.C111C|SPATS2L_ENST00000409385.1_Silent_p.C51C|SPATS2L_ENST00000409988.3_Silent_p.C111C	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	111						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGAATGGCTGCGAGAAGGACA	0.522																																																	0													36.0	39.0	38.0					2																	201284107		1921	4136	6057	SO:0001819	synonymous_variant	0			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.333C>T	2.37:g.201284107C>T			A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	pfam_DUF1387,superfamily_UBA-like	p.C141	ENST00000358677.5	37	c.423	CCDS46483.1	2																																																																																			SPATS2L	-	pfam_DUF1387	ENSG00000196141		0.522	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2L	HGNC	protein_coding	OTTHUMT00000336208.3	-	0.00	65	0	C	NM_015535		201284107	+1	tier1	-	no_errors	ENST00000409755	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.715	T
SPDYE2	441273	genome.wustl.edu	37	7	102196355	102196355	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:102196355G>T	ENST00000507918.1	+	4	862	c.388G>T	c.(388-390)Gta>Tta	p.V130L	SPDYE2_ENST00000341656.4_5'UTR|RP11-514P8.7_ENST00000514917.2_Intron|SPDYE2_ENST00000432940.1_5'UTR	NM_001031618.3	NP_001026789.2	Q495Y8	SPDE2_HUMAN	speedy/RINGO cell cycle regulator family member E2	130				V -> L (in Ref. 1; BAG63573). {ECO:0000305}.													AGCCCCTGGGGTAGATCCCAG	0.567																																																	0																																										SO:0001583	missense	0			AK302217	CCDS34716.1, CCDS34716.2	7q22.1	2013-05-08	2013-05-08		ENSG00000205238	ENSG00000205238		"""Speedy homologs"""	33841	protein-coding gene	gene with protein product			"""speedy homolog E2 (Xenopus laevis)"""				Standard	NM_001031618		Approved	MGC119295		Q495Y8	OTTHUMG00000150385	ENST00000507918.1:c.388G>T	7.37:g.102196355G>T	ENSP00000421686:p.Val130Leu		B4DY11	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.V130L	ENST00000507918.1	37	c.388	CCDS34716.2	7	.	.	.	.	.	.	.	.	.	.	g	11.50	1.657841	0.29425	.	.	ENSG00000205238	ENST00000507918	.	.	.	.	.	.	.	.	.	.	.	T	0.40979	0.1139	M	0.71036	2.16	0.24638	N	0.99358	P	0.35612	0.512	B	0.37198	0.243	T	0.38478	-0.9659	6	0.72032	D	0.01	.	.	.	.	.	130	Q495Y8	SPDE2_HUMAN	L	130	.	ENSP00000421686:V130L	V	+	1	0	SPDYE2	101983451	1.000000	0.71417	0.220000	0.23810	0.148000	0.21650	0.784000	0.26816	0.428000	0.26173	0.109000	0.15622	GTA	SPDYE2	-	NULL	ENSG00000205238		0.567	SPDYE2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE2	HGNC	protein_coding	OTTHUMT00000358897.1	-	0.00	22	0	G	NM_001031618		102196355	+1	tier1	-	no_errors	ENST00000507918	ensembl	human	known	74_37	missense	97.14	2	68	SNP	0.334	T
SPEG	10290	genome.wustl.edu	37	2	220355177	220355177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:220355177C>T	ENST00000312358.7	+	37	9100	c.8968C>T	c.(8968-8970)Cga>Tga	p.R2990*	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2990	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCCACGGGGCGAACGTTCGT	0.667																																																	0													41.0	48.0	46.0					2																	220355177		2124	4229	6353	SO:0001587	stop_gained	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8968C>T	2.37:g.220355177C>T	ENSP00000311684:p.Arg2990*		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R2990*	ENST00000312358.7	37	c.8968	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	C	50	17.196486	0.99881	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	.	.	.	4.64	2.8	0.32819	.	0.000000	0.34853	N	0.003625	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2778	0.54747	0.6278:0.3722:0.0:0.0	.	.	.	.	X	2990	.	ENSP00000265327:R2990X	R	+	1	2	SPEG	220063421	0.992000	0.36948	0.917000	0.36280	0.970000	0.65996	2.827000	0.48112	0.546000	0.28920	-0.293000	0.09583	CGA	SPEG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000072195		0.667	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	-	0.00	63	0	C	NM_005876		220355177	+1	tier1	-	no_errors	ENST00000312358	ensembl	human	novel	74_37	nonsense	60.42	19	29	SNP	0.759	T
SPEG	10290	genome.wustl.edu	37	2	220355177	220355177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:220355177C>T	ENST00000312358.7	+	37	9100	c.8968C>T	c.(8968-8970)Cga>Tga	p.R2990*	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2990	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCCACGGGGCGAACGTTCGT	0.667																																																	0													41.0	48.0	46.0					2																	220355177		2124	4229	6353	SO:0001587	stop_gained	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8968C>T	2.37:g.220355177C>T	ENSP00000311684:p.Arg2990*		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R2990*	ENST00000312358.7	37	c.8968	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	C	50	17.196486	0.99881	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	.	.	.	4.64	2.8	0.32819	.	0.000000	0.34853	N	0.003625	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2778	0.54747	0.6278:0.3722:0.0:0.0	.	.	.	.	X	2990	.	ENSP00000265327:R2990X	R	+	1	2	SPEG	220063421	0.992000	0.36948	0.917000	0.36280	0.970000	0.65996	2.827000	0.48112	0.546000	0.28920	-0.293000	0.09583	CGA	SPEG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000072195		0.667	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	-	0.00	66	0	C	NM_005876		220355177	+1	tier1	-	no_errors	ENST00000312358	ensembl	human	novel	74_37	nonsense	60.42	19	29	SNP	0.759	T
SPHKAP	80309	genome.wustl.edu	37	2	228860248	228860248	+	Silent	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:228860248G>C	ENST00000392056.3	-	8	4657	c.4611C>G	c.(4609-4611)ctC>ctG	p.L1537L	SPHKAP_ENST00000344657.5_Silent_p.L1537L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1537						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACTGAGCTGGAGAAAGCTAC	0.507																																																	0													230.0	199.0	209.0					2																	228860248		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4611C>G	2.37:g.228860248G>C			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.L1537	ENST00000392056.3	37	c.4611	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0.00	34	0	G	NM_030623		228860248	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	silent	29.55	31	13	SNP	1.000	C
SPHKAP	80309	genome.wustl.edu	37	2	228860248	228860248	+	Silent	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:228860248G>C	ENST00000392056.3	-	8	4657	c.4611C>G	c.(4609-4611)ctC>ctG	p.L1537L	SPHKAP_ENST00000344657.5_Silent_p.L1537L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1537						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACTGAGCTGGAGAAAGCTAC	0.507																																																	0													230.0	199.0	209.0					2																	228860248		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4611C>G	2.37:g.228860248G>C			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.L1537	ENST00000392056.3	37	c.4611	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0.00	47	0	G	NM_030623		228860248	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	silent	29.55	31	13	SNP	1.000	C
SPINK5	11005	genome.wustl.edu	37	5	147513406	147513406	+	Nonsense_Mutation	SNP	G	G	T	rs371879473		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:147513406G>T	ENST00000256084.7	+	32	3184	c.3142G>T	c.(3142-3144)Gag>Tag	p.E1048*	SPINK5_ENST00000359874.3_Nonsense_Mutation_p.E1078*	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1048	Kazal-like 15. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGTGTGAGGAGAGCAGCAC	0.498																																																	0													82.0	95.0	91.0					5																	147513406		2129	4250	6379	SO:0001587	stop_gained	0			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.3142G>T	5.37:g.147513406G>T	ENSP00000256084:p.Glu1048*		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Nonsense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom	p.E1078*	ENST00000256084.7	37	c.3232	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.431363	0.96150	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	.	.	.	4.93	2.09	0.27110	.	1.024280	0.07781	N	0.953306	.	.	.	.	.	.	0.43555	D	0.995866	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-1.557	5.0066	0.14291	0.1822:0.0:0.6511:0.1667	.	.	.	.	X	1078;1048	.	ENSP00000256084:E1048X	E	+	1	0	SPINK5	147493599	0.976000	0.34144	0.649000	0.29536	0.131000	0.20780	1.360000	0.34125	0.304000	0.22809	0.650000	0.86243	GAG	SPINK5	-	NULL	ENSG00000133710		0.498	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	-	0.00	104	0	G	NM_001127698		147513406	+1	tier1	-	no_errors	ENST00000359874	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	0.866	T
SPINK5	11005	genome.wustl.edu	37	5	147513406	147513406	+	Nonsense_Mutation	SNP	G	G	T	rs371879473		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:147513406G>T	ENST00000256084.7	+	32	3184	c.3142G>T	c.(3142-3144)Gag>Tag	p.E1048*	SPINK5_ENST00000359874.3_Nonsense_Mutation_p.E1078*	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1048	Kazal-like 15. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGTGTGAGGAGAGCAGCAC	0.498																																																	0													82.0	95.0	91.0					5																	147513406		2129	4250	6379	SO:0001587	stop_gained	0			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.3142G>T	5.37:g.147513406G>T	ENSP00000256084:p.Glu1048*		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Nonsense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom	p.E1078*	ENST00000256084.7	37	c.3232	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.431363	0.96150	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	.	.	.	4.93	2.09	0.27110	.	1.024280	0.07781	N	0.953306	.	.	.	.	.	.	0.43555	D	0.995866	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-1.557	5.0066	0.14291	0.1822:0.0:0.6511:0.1667	.	.	.	.	X	1078;1048	.	ENSP00000256084:E1048X	E	+	1	0	SPINK5	147493599	0.976000	0.34144	0.649000	0.29536	0.131000	0.20780	1.360000	0.34125	0.304000	0.22809	0.650000	0.86243	GAG	SPINK5	-	NULL	ENSG00000133710		0.498	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	-	0.00	136	0	G	NM_001127698		147513406	+1	tier1	-	no_errors	ENST00000359874	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	0.866	T
SPNS3	201305	genome.wustl.edu	37	17	4352620	4352620	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:4352620G>T	ENST00000355530.2	+	7	1141	c.861G>T	c.(859-861)gaG>gaT	p.E287D	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Missense_Mutation_p.E160D	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	287					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TTCTGCTCGAGGCACGCGTGG	0.677																																																	0													64.0	57.0	59.0					17																	4352620		2203	4300	6503	SO:0001583	missense	0				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.861G>T	17.37:g.4352620G>T	ENSP00000347721:p.Glu287Asp		Q8IZ31	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E287D	ENST00000355530.2	37	c.861	CCDS11045.1	17	.	.	.	.	.	.	.	.	.	.	g	9.069	0.996481	0.19043	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.58652	0.32;0.32	5.05	-2.58	0.06228	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.147023	0.48286	D	0.000196	T	0.43055	0.1230	L	0.50333	1.59	0.19575	N	0.999969	B;B	0.33345	0.409;0.001	B;B	0.33960	0.173;0.016	T	0.32929	-0.9888	10	0.41790	T	0.15	-26.6466	6.6929	0.23183	0.5511:0.1311:0.3179:0.0	.	160;287	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	D	287;160	ENSP00000347721:E287D;ENSP00000333207:E160D	ENSP00000333207:E160D	E	+	3	2	SPNS3	4299369	0.826000	0.29277	0.961000	0.40146	0.007000	0.05969	-0.031000	0.12287	-0.272000	0.09259	-0.144000	0.13903	GAG	SPNS3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000182557		0.677	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	-	0.00	37	0	G	NM_182538		4352620	+1	tier1	-	no_errors	ENST00000355530	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.481	T
SPNS3	201305	genome.wustl.edu	37	17	4352620	4352620	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:4352620G>T	ENST00000355530.2	+	7	1141	c.861G>T	c.(859-861)gaG>gaT	p.E287D	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Missense_Mutation_p.E160D	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	287					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TTCTGCTCGAGGCACGCGTGG	0.677																																																	0													64.0	57.0	59.0					17																	4352620		2203	4300	6503	SO:0001583	missense	0				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.861G>T	17.37:g.4352620G>T	ENSP00000347721:p.Glu287Asp		Q8IZ31	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E287D	ENST00000355530.2	37	c.861	CCDS11045.1	17	.	.	.	.	.	.	.	.	.	.	g	9.069	0.996481	0.19043	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.58652	0.32;0.32	5.05	-2.58	0.06228	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.147023	0.48286	D	0.000196	T	0.43055	0.1230	L	0.50333	1.59	0.19575	N	0.999969	B;B	0.33345	0.409;0.001	B;B	0.33960	0.173;0.016	T	0.32929	-0.9888	10	0.41790	T	0.15	-26.6466	6.6929	0.23183	0.5511:0.1311:0.3179:0.0	.	160;287	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	D	287;160	ENSP00000347721:E287D;ENSP00000333207:E160D	ENSP00000333207:E160D	E	+	3	2	SPNS3	4299369	0.826000	0.29277	0.961000	0.40146	0.007000	0.05969	-0.031000	0.12287	-0.272000	0.09259	-0.144000	0.13903	GAG	SPNS3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000182557		0.677	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	-	0.00	40	0	G	NM_182538		4352620	+1	tier1	-	no_errors	ENST00000355530	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.481	T
SPPL3	121665	genome.wustl.edu	37	12	121222277	121222277	+	Splice_Site	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:121222277C>A	ENST00000353487.2	-	4	813	c.310G>T	c.(310-312)Gtt>Ttt	p.V104F		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	105						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCATATTTACCTGCTGTACAT	0.318																																																	0													62.0	60.0	61.0					12																	121222277		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.310+1G>T	12.37:g.121222277C>A			Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.V104F	ENST00000353487.2	37	c.310	CCDS9208.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746780	0.89663	.	.	ENSG00000157837	ENST00000353487;ENST00000405631;ENST00000536996;ENST00000543608;ENST00000543854;ENST00000543181	T;T;T;T;D	0.92965	2.08;2.08;2.08;2.08;-3.14	5.86	5.86	0.93980	.	0.105034	0.64402	D	0.000004	D	0.95560	0.8557	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.72982	0.979;0.939	D	0.94239	0.7483	10	0.39692	T	0.17	-30.2732	19.797	0.96490	0.0:1.0:0.0:0.0	.	105;104	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	F	104;103;67;67;18;67	ENSP00000288680:V104F;ENSP00000442484:V67F;ENSP00000437603:V67F;ENSP00000439390:V18F;ENSP00000446088:V67F	ENSP00000288680:V104F	V	-	1	0	AC069214.1	119706660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.243000	0.78219	2.776000	0.95493	0.655000	0.94253	GTT	SPPL3	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000157837		0.318	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	-	0.00	49	0	C	NM_139015	Missense_Mutation	121222277	-1	tier1	-	no_errors	ENST00000353487	ensembl	human	known	74_37	missense	17.86	46	10	SNP	1.000	A
SPPL3	121665	genome.wustl.edu	37	12	121222277	121222277	+	Splice_Site	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:121222277C>A	ENST00000353487.2	-	4	813	c.310G>T	c.(310-312)Gtt>Ttt	p.V104F		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	105						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCATATTTACCTGCTGTACAT	0.318																																																	0													62.0	60.0	61.0					12																	121222277		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.310+1G>T	12.37:g.121222277C>A			Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.V104F	ENST00000353487.2	37	c.310	CCDS9208.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746780	0.89663	.	.	ENSG00000157837	ENST00000353487;ENST00000405631;ENST00000536996;ENST00000543608;ENST00000543854;ENST00000543181	T;T;T;T;D	0.92965	2.08;2.08;2.08;2.08;-3.14	5.86	5.86	0.93980	.	0.105034	0.64402	D	0.000004	D	0.95560	0.8557	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.72982	0.979;0.939	D	0.94239	0.7483	10	0.39692	T	0.17	-30.2732	19.797	0.96490	0.0:1.0:0.0:0.0	.	105;104	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	F	104;103;67;67;18;67	ENSP00000288680:V104F;ENSP00000442484:V67F;ENSP00000437603:V67F;ENSP00000439390:V18F;ENSP00000446088:V67F	ENSP00000288680:V104F	V	-	1	0	AC069214.1	119706660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.243000	0.78219	2.776000	0.95493	0.655000	0.94253	GTT	SPPL3	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000157837		0.318	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	-	0.00	58	0	C	NM_139015	Missense_Mutation	121222277	-1	tier1	-	no_errors	ENST00000353487	ensembl	human	known	74_37	missense	17.86	46	10	SNP	1.000	A
SPTA1	6708	genome.wustl.edu	37	1	158617477	158617477	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:158617477T>C	ENST00000368147.4	-	27	3928	c.3748A>G	c.(3748-3750)Agt>Ggt	p.S1250G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1250					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGGACTCACTGAGCCGCTCT	0.527																																																	0													69.0	68.0	68.0					1																	158617477		1953	4170	6123	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3748A>G	1.37:g.158617477T>C	ENSP00000357129:p.Ser1250Gly		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S1250G	ENST00000368147.4	37	c.3748	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	9.548	1.115042	0.20795	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35048	1.33;1.33	4.71	-9.41	0.00613	.	1.407460	0.05131	N	0.492500	T	0.10766	0.0263	L	0.39245	1.2	0.09310	N	1	B	0.19706	0.038	B	0.30495	0.116	T	0.19712	-1.0297	10	0.27082	T	0.32	.	10.9155	0.47133	0.7045:0.0:0.0887:0.2067	.	1250	P02549	SPTA1_HUMAN	G	1250	ENSP00000357130:S1250G;ENSP00000357129:S1250G	ENSP00000357129:S1250G	S	-	1	0	SPTA1	156884101	1.000000	0.71417	0.001000	0.08648	0.132000	0.20833	1.409000	0.34680	-2.351000	0.00617	-1.829000	0.00594	AGT	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.527	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	30	0	T	NM_003126		158617477	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	48.00	13	12	SNP	0.311	C
SPTY2D1	144108	genome.wustl.edu	37	11	18637267	18637267	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:18637267T>A	ENST00000336349.5	-	3	789	c.554A>T	c.(553-555)gAa>gTa	p.E185V	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	185										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TACCTTGATTTCCACTGGTTC	0.448																																																	0													149.0	147.0	148.0					11																	18637267		2199	4293	6492	SO:0001583	missense	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.554A>T	11.37:g.18637267T>A	ENSP00000337991:p.Glu185Val		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.E185V	ENST00000336349.5	37	c.554	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150809	0.78001	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.26810	1.71	5.63	5.63	0.86233	.	0.055499	0.64402	D	0.000001	T	0.48943	0.1528	M	0.64997	1.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.49244	-0.8960	10	0.66056	D	0.02	-15.751	15.8291	0.78739	0.0:0.0:0.0:1.0	.	185	Q68D10	SPT2_HUMAN	V	185	ENSP00000337991:E185V	ENSP00000331447:E185V	E	-	2	0	SPTY2D1	18593843	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.071000	0.71229	2.138000	0.66242	0.460000	0.39030	GAA	SPTY2D1	-	NULL	ENSG00000179119		0.448	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	-	0.00	133	0	T	NM_194285		18637267	-1	tier1	-	no_errors	ENST00000336349	ensembl	human	known	74_37	missense	16.00	84	16	SNP	1.000	A
SPTY2D1	144108	genome.wustl.edu	37	11	18637267	18637267	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:18637267T>A	ENST00000336349.5	-	3	789	c.554A>T	c.(553-555)gAa>gTa	p.E185V	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	185										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TACCTTGATTTCCACTGGTTC	0.448																																																	0													149.0	147.0	148.0					11																	18637267		2199	4293	6492	SO:0001583	missense	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.554A>T	11.37:g.18637267T>A	ENSP00000337991:p.Glu185Val		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.E185V	ENST00000336349.5	37	c.554	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150809	0.78001	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.26810	1.71	5.63	5.63	0.86233	.	0.055499	0.64402	D	0.000001	T	0.48943	0.1528	M	0.64997	1.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.49244	-0.8960	10	0.66056	D	0.02	-15.751	15.8291	0.78739	0.0:0.0:0.0:1.0	.	185	Q68D10	SPT2_HUMAN	V	185	ENSP00000337991:E185V	ENSP00000331447:E185V	E	-	2	0	SPTY2D1	18593843	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.071000	0.71229	2.138000	0.66242	0.460000	0.39030	GAA	SPTY2D1	-	NULL	ENSG00000179119		0.448	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	-	0.00	91	0	T	NM_194285		18637267	-1	tier1	-	no_errors	ENST00000336349	ensembl	human	known	74_37	missense	16.00	84	16	SNP	1.000	A
SRP72	6731	genome.wustl.edu	37	4	57350944	57350944	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:57350944A>T	ENST00000342756.5	+	10	1721	c.1000A>T	c.(1000-1002)Agt>Tgt	p.S334C	SRP72_ENST00000510663.1_Missense_Mutation_p.S273C	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	334					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					ACAGTCCCAAAGTCCCGAGCA	0.413																																																	0													119.0	111.0	114.0					4																	57350944		2203	4300	6503	SO:0001583	missense	0			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1000A>T	4.37:g.57350944A>T	ENSP00000342181:p.Ser334Cys		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S334C	ENST00000342756.5	37	c.1000	CCDS3506.1	4	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598678	0.66332	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.77098	-1.07;1.12	5.62	4.37	0.52481	.	0.219308	0.56097	D	0.000030	T	0.61337	0.2339	N	0.08118	0	0.37158	D	0.902479	P;B;D	0.54601	0.956;0.333;0.967	P;B;P	0.49012	0.575;0.264;0.598	T	0.65524	-0.6147	10	0.39692	T	0.17	.	5.2941	0.15743	0.7301:0.1806:0.0893:0.0	.	273;334;334	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	C	334;279;273;95	ENSP00000342181:S334C;ENSP00000424576:S273C	ENSP00000342181:S334C	S	+	1	0	SRP72	57045701	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.837000	0.69381	2.124000	0.65301	0.533000	0.62120	AGT	SRP72	-	NULL	ENSG00000174780		0.413	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	HGNC	protein_coding	OTTHUMT00000250782.7		0.00	97	0	A			57350944	+1			no_errors	ENST00000342756	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T
SRRM2	23524	genome.wustl.edu	37	16	2817411	2817411	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:2817411T>G	ENST00000301740.8	+	11	7431	c.6882T>G	c.(6880-6882)gcT>gcG	p.A2294A	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2294	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGCCCCAGCTGTGAACCTAG	0.637																																																	0													121.0	130.0	127.0					16																	2817411		2198	4300	6498	SO:0001819	synonymous_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6882T>G	16.37:g.2817411T>G			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.A2294	ENST00000301740.8	37	c.6882	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.637	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0.00	50	0	T			2817411	+1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	silent	46.43	15	13	SNP	0.996	G
SRRM2	23524	genome.wustl.edu	37	16	2817411	2817411	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:2817411T>G	ENST00000301740.8	+	11	7431	c.6882T>G	c.(6880-6882)gcT>gcG	p.A2294A	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2294	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGCCCCAGCTGTGAACCTAG	0.637																																																	0													121.0	130.0	127.0					16																	2817411		2198	4300	6498	SO:0001819	synonymous_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6882T>G	16.37:g.2817411T>G			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.A2294	ENST00000301740.8	37	c.6882	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.637	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0.00	60	0	T			2817411	+1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	silent	46.43	15	13	SNP	0.996	G
SSTR3	6753	genome.wustl.edu	37	22	37602865	37602865	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:37602865C>A	ENST00000328544.3	-	2	1511	c.978G>T	c.(976-978)agG>agT	p.R326S	SSTR3_ENST00000402501.1_Missense_Mutation_p.R326S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	326					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCAGCAGGACCCTGCGGAAGC	0.657																																																	0													40.0	42.0	42.0					22																	37602865		2203	4299	6502	SO:0001583	missense	0				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.978G>T	22.37:g.37602865C>A	ENSP00000330138:p.Arg326Ser		A8K550|Q53ZR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt	p.R326S	ENST00000328544.3	37	c.978	CCDS13944.1	22	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079510	0.76528	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.39056	1.1;1.1	5.29	4.25	0.50352	.	0.049665	0.85682	D	0.000000	T	0.52773	0.1755	M	0.64997	1.995	0.43326	D	0.995354	D	0.63046	0.992	P	0.57468	0.821	T	0.55296	-0.8163	10	0.72032	D	0.01	.	9.2614	0.37614	0.0:0.777:0.1469:0.0761	.	326	P32745	SSR3_HUMAN	S	326	ENSP00000330138:R326S;ENSP00000384904:R326S	ENSP00000330138:R326S	R	-	3	2	SSTR3	35932811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.982000	0.29539	1.177000	0.42855	0.563000	0.77884	AGG	SSTR3	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Somatstn_rcpt_3,prints_Somatstn_rcpt	ENSG00000183473		0.657	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	HGNC	protein_coding	OTTHUMT00000318802.1	-	0.00	140	0	C			37602865	-1	tier1	-	no_errors	ENST00000328544	ensembl	human	known	74_37	missense	7.03	119	9	SNP	1.000	A
SSTR3	6753	genome.wustl.edu	37	22	37602865	37602865	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:37602865C>A	ENST00000328544.3	-	2	1511	c.978G>T	c.(976-978)agG>agT	p.R326S	SSTR3_ENST00000402501.1_Missense_Mutation_p.R326S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	326					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCAGCAGGACCCTGCGGAAGC	0.657																																																	0													40.0	42.0	42.0					22																	37602865		2203	4299	6502	SO:0001583	missense	0				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.978G>T	22.37:g.37602865C>A	ENSP00000330138:p.Arg326Ser		A8K550|Q53ZR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt	p.R326S	ENST00000328544.3	37	c.978	CCDS13944.1	22	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079510	0.76528	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.39056	1.1;1.1	5.29	4.25	0.50352	.	0.049665	0.85682	D	0.000000	T	0.52773	0.1755	M	0.64997	1.995	0.43326	D	0.995354	D	0.63046	0.992	P	0.57468	0.821	T	0.55296	-0.8163	10	0.72032	D	0.01	.	9.2614	0.37614	0.0:0.777:0.1469:0.0761	.	326	P32745	SSR3_HUMAN	S	326	ENSP00000330138:R326S;ENSP00000384904:R326S	ENSP00000330138:R326S	R	-	3	2	SSTR3	35932811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.982000	0.29539	1.177000	0.42855	0.563000	0.77884	AGG	SSTR3	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Somatstn_rcpt_3,prints_Somatstn_rcpt	ENSG00000183473		0.657	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	HGNC	protein_coding	OTTHUMT00000318802.1	-	0.00	175	0	C			37602865	-1	tier1	-	no_errors	ENST00000328544	ensembl	human	known	74_37	missense	7.03	119	9	SNP	1.000	A
SSUH2	51066	genome.wustl.edu	37	3	8661589	8661589	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:8661589G>T	ENST00000317371.4	-	19	2252	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	SSUH2_ENST00000341795.3_Missense_Mutation_p.P343T|SSUH2_ENST00000544814.1_Missense_Mutation_p.P365T|SSUH2_ENST00000415132.1_3'UTR			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	343						cytoplasm (GO:0005737)											TACCGCTCAGGATAGTCCACC	0.517																																																	0													173.0	142.0	153.0					3																	8661589		2203	4300	6503	SO:0001583	missense	0			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.1027C>A	3.37:g.8661589G>T	ENSP00000324551:p.Pro343Thr		A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	superfamily_HSP_DnaJ_Cys-rich_dom	p.P365T	ENST00000317371.4	37	c.1093	CCDS2568.1	3	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911226	0.52439	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000544814	T;T;T	0.61627	0.12;0.12;0.09	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	M	0.71871	2.18	0.48341	D	0.999636	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77381	-0.2609	10	0.87932	D	0	-13.4244	13.9457	0.64082	0.0:0.0:1.0:0.0	.	365;343	F5H2S5;Q9Y2M2	.;CC032_HUMAN	T	343;343;365	ENSP00000339150:P343T;ENSP00000324551:P343T;ENSP00000439378:P365T	ENSP00000324551:P343T	P	-	1	0	C3orf32	8636589	1.000000	0.71417	0.786000	0.31890	0.133000	0.20885	6.250000	0.72435	2.335000	0.79485	0.467000	0.42956	CCT	SSUH2	-	NULL	ENSG00000125046		0.517	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSUH2	HGNC	protein_coding	OTTHUMT00000337900.1	-	0.00	57	0	G	NM_015931		8661589	-1	tier1	-	no_errors	ENST00000544814	ensembl	human	known	74_37	missense	7.41	49	4	SNP	1.000	T
SSUH2	51066	genome.wustl.edu	37	3	8661589	8661589	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:8661589G>T	ENST00000317371.4	-	19	2252	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	SSUH2_ENST00000341795.3_Missense_Mutation_p.P343T|SSUH2_ENST00000544814.1_Missense_Mutation_p.P365T|SSUH2_ENST00000415132.1_3'UTR			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	343						cytoplasm (GO:0005737)											TACCGCTCAGGATAGTCCACC	0.517																																																	0													173.0	142.0	153.0					3																	8661589		2203	4300	6503	SO:0001583	missense	0			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.1027C>A	3.37:g.8661589G>T	ENSP00000324551:p.Pro343Thr		A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	superfamily_HSP_DnaJ_Cys-rich_dom	p.P365T	ENST00000317371.4	37	c.1093	CCDS2568.1	3	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911226	0.52439	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000544814	T;T;T	0.61627	0.12;0.12;0.09	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	M	0.71871	2.18	0.48341	D	0.999636	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77381	-0.2609	10	0.87932	D	0	-13.4244	13.9457	0.64082	0.0:0.0:1.0:0.0	.	365;343	F5H2S5;Q9Y2M2	.;CC032_HUMAN	T	343;343;365	ENSP00000339150:P343T;ENSP00000324551:P343T;ENSP00000439378:P365T	ENSP00000324551:P343T	P	-	1	0	C3orf32	8636589	1.000000	0.71417	0.786000	0.31890	0.133000	0.20885	6.250000	0.72435	2.335000	0.79485	0.467000	0.42956	CCT	SSUH2	-	NULL	ENSG00000125046		0.517	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSUH2	HGNC	protein_coding	OTTHUMT00000337900.1	-	0.00	82	0	G	NM_015931		8661589	-1	tier1	-	no_errors	ENST00000544814	ensembl	human	known	74_37	missense	7.41	49	4	SNP	1.000	T
ST3GAL6	10402	genome.wustl.edu	37	3	98490000	98490000	+	Intron	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:98490000A>G	ENST00000483910.1	+	3	456				ST3GAL6_ENST00000394162.1_Intron|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000468553.1_Intron|ST3GAL6_ENST00000265261.6_5'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AAAGGCATTGAGGAACTCAAT	0.348																																																	0																																										SO:0001627	intron_variant	0			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.167+200A>G	3.37:g.98490000A>G			B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	NULL	p.E68G	ENST00000483910.1	37	c.203	CCDS2933.1	3																																																																																			ST3GAL6	-	NULL	ENSG00000064225		0.348	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding	OTTHUMT00000353013.2	-	0.00	51	0	A	NM_006100		98490000	+1	tier1	-	no_errors	ENST00000469105	ensembl	human	known	74_37	missense	8.70	63	6	SNP	0.175	G
ST3GAL6	10402	genome.wustl.edu	37	3	98490000	98490000	+	Intron	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:98490000A>G	ENST00000483910.1	+	3	456				ST3GAL6_ENST00000394162.1_Intron|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000468553.1_Intron|ST3GAL6_ENST00000265261.6_5'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AAAGGCATTGAGGAACTCAAT	0.348																																																	0																																										SO:0001627	intron_variant	0			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.167+200A>G	3.37:g.98490000A>G			B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	NULL	p.E68G	ENST00000483910.1	37	c.203	CCDS2933.1	3																																																																																			ST3GAL6	-	NULL	ENSG00000064225		0.348	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding	OTTHUMT00000353013.2	-	0.00	97	0	A	NM_006100		98490000	+1	tier1	-	no_errors	ENST00000469105	ensembl	human	known	74_37	missense	8.70	63	6	SNP	0.175	G
ST5	6764	genome.wustl.edu	37	11	8751710	8751710	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:8751710G>T	ENST00000534127.1	-	6	1512	c.1127C>A	c.(1126-1128)tCg>tAg	p.S376*	ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Nonsense_Mutation_p.S376*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S376*|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	376	Pro-rich.				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)		GGAACTCTTCGATGGCAGCCG	0.612																																																	0													109.0	111.0	111.0					11																	8751710		2201	4296	6497	SO:0001587	stop_gained	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.1127C>A	11.37:g.8751710G>T	ENSP00000433528:p.Ser376*		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S376*	ENST00000534127.1	37	c.1127	CCDS7791.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512643	0.85389	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	.	.	.	5.32	4.41	0.53225	.	0.745603	0.13237	N	0.403192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	1.0E-4	9.9316	0.41525	0.0911:0.0:0.9089:0.0	.	.	.	.	X	376	.	ENSP00000319678:S376X	S	-	2	0	ST5	8708286	0.932000	0.31603	0.286000	0.24833	0.907000	0.53573	4.084000	0.57650	1.627000	0.50400	0.655000	0.94253	TCG	ST5	-	NULL	ENSG00000166444		0.612	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1		0.00	113	0	G	NM_005418		8751710	-1			no_errors	ENST00000313726	ensembl	human	known	74_37	nonsense	7.58	61	5	SNP	0.055	T
STK33	65975	genome.wustl.edu	37	11	8494710	8494710	+	Splice_Site	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:8494710C>A	ENST00000447869.1	-	2	1257	c.339G>T	c.(337-339)gaG>gaT	p.E113D	STK33_ENST00000534493.1_Splice_Site_p.E72D|STK33_ENST00000396672.1_Splice_Site_p.E113D|STK33_ENST00000358872.3_Intron|STK33_ENST00000315204.1_Splice_Site_p.E113D|STK33_ENST00000396673.1_Splice_Site_p.E113D			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	113					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTCTATATACCTCAATAGCAG	0.368																																																	0													164.0	159.0	161.0					11																	8494710		2201	4296	6497	SO:0001630	splice_region_variant	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.339+1G>T	11.37:g.8494710C>A			Q658S6|Q8NEF5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E113D	ENST00000447869.1	37	c.339	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868951	0.51588	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;D;D;D	0.82619	1.98;1.98;1.98;1.98;1.98;-0.56;-1.63;-1.63;-1.63	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.378787	0.30101	N	0.010406	T	0.70649	0.3248	N	0.19112	0.55	0.31245	N	0.694776	B	0.28128	0.201	B	0.20767	0.031	T	0.67662	-0.5613	9	.	.	.	.	15.6269	0.76867	0.0:1.0:0.0:0.0	.	113	Q9BYT3	STK33_HUMAN	D	113;113;113;113;72;63;72;72;113	ENSP00000416750:E113D;ENSP00000320754:E113D;ENSP00000379905:E113D;ENSP00000379906:E113D;ENSP00000436418:E72D;ENSP00000436905:E63D;ENSP00000391362:E72D;ENSP00000411510:E72D;ENSP00000403599:E113D	.	E	-	3	2	STK33	8451286	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.420000	0.52735	2.545000	0.85829	0.591000	0.81541	GAG	STK33	-	superfamily_Kinase-like_dom	ENSG00000130413		0.368	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2		0.00	68	0	C	NM_030906	Missense_Mutation	8494710	-1			no_errors	ENST00000315204	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
STIP1	10963	genome.wustl.edu	37	11	63953410	63953410	+	5'Flank	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:63953410A>C	ENST00000305218.4	+	0	0				STIP1_ENST00000358794.5_Missense_Mutation_p.E38D|STIP1_ENST00000543847.1_5'Flank|STIP1_ENST00000538945.1_5'Flank	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1						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						GTGTCGCAGAAGTTCGCTCCT	0.582																																																	0																																										SO:0001631	upstream_gene_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		11.37:g.63953410A>C	Exception_encountered		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E38D	ENST00000305218.4	37	c.114	CCDS8058.1	11	.	.	.	.	.	.	.	.	.	.	A	10.89	1.477456	0.26511	.	.	ENSG00000168439	ENST00000358794	T	0.14640	2.49	4.12	-6.11	0.02131	.	17.483900	0.00397	N	0.000050	T	0.05090	0.0136	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.29822	-0.9999	7	0.10636	T	0.68	-1.5742	3.9433	0.09338	0.2062:0.1357:0.5039:0.1542	.	.	.	.	D	38	ENSP00000351646:E38D	ENSP00000351646:E38D	E	+	3	2	STIP1	63709986	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.847000	0.04331	-1.315000	0.02297	0.402000	0.26972	GAA	STIP1	-	NULL	ENSG00000168439		0.582	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIP1	HGNC	protein_coding	OTTHUMT00000396289.2	-	0.00	63	0	A	NM_006819		63953410	+1	tier1	-	no_errors	ENST00000358794	ensembl	human	putative	74_37	missense	9.62	47	5	SNP	0.000	C
STIP1	10963	genome.wustl.edu	37	11	63953410	63953410	+	5'Flank	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:63953410A>C	ENST00000305218.4	+	0	0				STIP1_ENST00000358794.5_Missense_Mutation_p.E38D|STIP1_ENST00000543847.1_5'Flank|STIP1_ENST00000538945.1_5'Flank	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1						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						GTGTCGCAGAAGTTCGCTCCT	0.582																																																	0																																										SO:0001631	upstream_gene_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		11.37:g.63953410A>C	Exception_encountered		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E38D	ENST00000305218.4	37	c.114	CCDS8058.1	11	.	.	.	.	.	.	.	.	.	.	A	10.89	1.477456	0.26511	.	.	ENSG00000168439	ENST00000358794	T	0.14640	2.49	4.12	-6.11	0.02131	.	17.483900	0.00397	N	0.000050	T	0.05090	0.0136	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.29822	-0.9999	7	0.10636	T	0.68	-1.5742	3.9433	0.09338	0.2062:0.1357:0.5039:0.1542	.	.	.	.	D	38	ENSP00000351646:E38D	ENSP00000351646:E38D	E	+	3	2	STIP1	63709986	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.847000	0.04331	-1.315000	0.02297	0.402000	0.26972	GAA	STIP1	-	NULL	ENSG00000168439		0.582	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIP1	HGNC	protein_coding	OTTHUMT00000396289.2	-	0.00	87	0	A	NM_006819		63953410	+1	tier1	-	no_errors	ENST00000358794	ensembl	human	putative	74_37	missense	9.62	47	5	SNP	0.000	C
STK36	27148	genome.wustl.edu	37	2	219557002	219557002	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:219557002T>C	ENST00000295709.3	+	15	2180	c.1901T>C	c.(1900-1902)gTc>gCc	p.V634A	STK36_ENST00000392105.3_Missense_Mutation_p.V634A|STK36_ENST00000392106.2_Missense_Mutation_p.V634A|STK36_ENST00000440309.1_Missense_Mutation_p.V634A	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CAGCTCCCTGTCCACACTCCC	0.532																																																	0													75.0	82.0	79.0					2																	219557002		2203	4300	6503	SO:0001583	missense	0			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1901T>C	2.37:g.219557002T>C	ENSP00000295709:p.Val634Ala			Missense_Mutation	SNP	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.V634A	ENST00000295709.3	37	c.1901	CCDS2421.1	2	.	.	.	.	.	.	.	.	.	.	T	10.64	1.405869	0.25378	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.68479	-0.33;-0.33;0.75;-0.33	4.85	4.85	0.62838	Armadillo-like helical (1);	0.467796	0.18159	N	0.149846	T	0.46908	0.1417	N	0.08118	0	0.21967	N	0.999443	B;B	0.23249	0.082;0.049	B;B	0.26416	0.069;0.046	T	0.42378	-0.9455	10	0.46703	T	0.11	-9.6107	10.7522	0.46216	0.0:0.0:0.0:1.0	.	634;634	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	A	634	ENSP00000295709:V634A;ENSP00000375955:V634A;ENSP00000375954:V634A;ENSP00000394095:V634A	ENSP00000295709:V634A	V	+	2	0	STK36	219265246	1.000000	0.71417	0.995000	0.50966	0.354000	0.29330	1.976000	0.40579	2.035000	0.60131	0.533000	0.62120	GTC	STK36	-	superfamily_ARM-type_fold	ENSG00000163482		0.532	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	-	0.00	37	0	T			219557002	+1	tier1	-	no_errors	ENST00000295709	ensembl	human	known	74_37	missense	20.69	23	6	SNP	0.995	C
STK36	27148	genome.wustl.edu	37	2	219557002	219557002	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:219557002T>C	ENST00000295709.3	+	15	2180	c.1901T>C	c.(1900-1902)gTc>gCc	p.V634A	STK36_ENST00000392105.3_Missense_Mutation_p.V634A|STK36_ENST00000392106.2_Missense_Mutation_p.V634A|STK36_ENST00000440309.1_Missense_Mutation_p.V634A	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CAGCTCCCTGTCCACACTCCC	0.532																																																	0													75.0	82.0	79.0					2																	219557002		2203	4300	6503	SO:0001583	missense	0			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1901T>C	2.37:g.219557002T>C	ENSP00000295709:p.Val634Ala			Missense_Mutation	SNP	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.V634A	ENST00000295709.3	37	c.1901	CCDS2421.1	2	.	.	.	.	.	.	.	.	.	.	T	10.64	1.405869	0.25378	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.68479	-0.33;-0.33;0.75;-0.33	4.85	4.85	0.62838	Armadillo-like helical (1);	0.467796	0.18159	N	0.149846	T	0.46908	0.1417	N	0.08118	0	0.21967	N	0.999443	B;B	0.23249	0.082;0.049	B;B	0.26416	0.069;0.046	T	0.42378	-0.9455	10	0.46703	T	0.11	-9.6107	10.7522	0.46216	0.0:0.0:0.0:1.0	.	634;634	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	A	634	ENSP00000295709:V634A;ENSP00000375955:V634A;ENSP00000375954:V634A;ENSP00000394095:V634A	ENSP00000295709:V634A	V	+	2	0	STK36	219265246	1.000000	0.71417	0.995000	0.50966	0.354000	0.29330	1.976000	0.40579	2.035000	0.60131	0.533000	0.62120	GTC	STK36	-	superfamily_ARM-type_fold	ENSG00000163482		0.532	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	-	0.00	38	0	T			219557002	+1	tier1	-	no_errors	ENST00000295709	ensembl	human	known	74_37	missense	20.69	23	6	SNP	0.995	C
STRA8	346673	genome.wustl.edu	37	7	134916754	134916754	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:134916754G>T	ENST00000275764.3	+	1	24	c.24G>T	c.(22-24)aaG>aaT	p.K8N		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ATGTGGACAAGATCCTCTTTT	0.483																																																	0													129.0	121.0	124.0					7																	134916754		2203	4300	6503	SO:0001583	missense	0			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.24G>T	7.37:g.134916754G>T	ENSP00000275764:p.Lys8Asn			Missense_Mutation	SNP	superfamily_bHLH_dom	p.K8N	ENST00000275764.3	37	c.24	CCDS5839.1	7	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842902	0.32606	.	.	ENSG00000146857	ENST00000275764	.	.	.	3.04	3.04	0.35103	.	.	.	.	.	T	0.28928	0.0718	L	0.29908	0.895	0.09310	N	1	B	0.30889	0.299	B	0.22152	0.038	T	0.15983	-1.0418	8	0.56958	D	0.05	-0.0247	9.7978	0.40746	0.0:0.0:1.0:0.0	.	8	Q7Z7C7	STRA8_HUMAN	N	8	.	ENSP00000275764:K8N	K	+	3	2	STRA8	134567294	0.073000	0.21202	0.020000	0.16555	0.298000	0.27526	0.923000	0.28757	2.009000	0.58944	0.561000	0.74099	AAG	STRA8	-	NULL	ENSG00000146857		0.483	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA8	HGNC	protein_coding	OTTHUMT00000340028.1		0.00	71	0	G	NM_182489		134916754	+1			no_errors	ENST00000275764	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.024	T
STT3A	3703	genome.wustl.edu	37	11	125482887	125482887	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:125482887G>T	ENST00000529196.1	+	14	1575	c.1369G>T	c.(1369-1371)Gca>Tca	p.A457S	STT3A_ENST00000531491.1_Missense_Mutation_p.A365S|STT3A_ENST00000392708.4_Missense_Mutation_p.A457S			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	457					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TGTTTAGGTGGCAAGTGGGAT	0.403																																																	0													270.0	243.0	252.0					11																	125482887		2201	4299	6500	SO:0001583	missense	0			BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1369G>T	11.37:g.125482887G>T	ENSP00000436962:p.Ala457Ser		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	pfam_Oligo_trans_STT3	p.A457S	ENST00000529196.1	37	c.1369	CCDS8458.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.545488|2.545488	0.45280|0.45280	.|.	.|.	ENSG00000134910|ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491|ENST00000526726	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.112133|.	0.64402|.	D|.	0.000010|.	T|T	0.53334|0.53334	0.1790|0.1790	N|N	0.16130|0.16130	0.375|0.375	0.80722|0.80722	D|D	1|1	B;B|.	0.27932|.	0.194;0.09|.	B;B|.	0.28991|.	0.097;0.086|.	T|T	0.44097|0.44097	-0.9350|-0.9350	9|5	0.26408|.	T|.	0.33|.	-14.1839|-14.1839	20.4898|20.4898	0.99202|0.99202	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	365;457|.	B4DJ24;P46977|.	.;STT3A_HUMAN|.	S|C	457;457;365|168	.|.	ENSP00000376472:A457S|.	A|W	+|+	1|3	0|0	STT3A|STT3A	124988097|124988097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.758000|0.758000	0.43043|0.43043	7.909000|7.909000	0.87444|0.87444	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|TGG	STT3A	-	pfam_Oligo_trans_STT3	ENSG00000134910		0.403	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	STT3A	HGNC	protein_coding	OTTHUMT00000386691.1	-	0.00	56	0	G	NM_152713		125482887	+1	tier1	-	no_errors	ENST00000392708	ensembl	human	known	74_37	missense	16.33	40	8	SNP	1.000	T
STX18	53407	genome.wustl.edu	37	4	4422615	4422615	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:4422615C>A	ENST00000306200.2	-	10	951	c.888G>T	c.(886-888)aaG>aaT	p.K296N	STX18_ENST00000505286.1_Missense_Mutation_p.K296N	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	296	t-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CGTTGCCTTCCTTGATATTTT	0.493																																																	0													317.0	245.0	269.0					4																	4422615		2203	4300	6503	SO:0001583	missense	0			AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.888G>T	4.37:g.4422615C>A	ENSP00000305810:p.Lys296Asn		Q596L3|Q5TZP5	Missense_Mutation	SNP	pfam_Syntaxin-18_N	p.K296N	ENST00000306200.2	37	c.888	CCDS3377.1	4	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036687	0.54896	.	.	ENSG00000168818	ENST00000505286;ENST00000306200	T;T	0.25414	1.8;1.82	4.89	2.22	0.28083	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	L	0.55213	1.73	0.80722	D	1	P	0.52577	0.954	P	0.50754	0.649	T	0.01587	-1.1318	10	0.37606	T	0.19	-4.0E-4	8.6736	0.34165	0.0:0.5357:0.0:0.4643	.	296	Q9P2W9	STX18_HUMAN	N	296	ENSP00000426648:K296N;ENSP00000305810:K296N	ENSP00000305810:K296N	K	-	3	2	STX18	4473516	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	1.513000	0.35823	0.139000	0.18822	0.561000	0.74099	AAG	STX18	-	NULL	ENSG00000168818		0.493	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX18	HGNC	protein_coding	OTTHUMT00000206696.1	-	0.00	134	0	C			4422615	-1	tier1	-	no_errors	ENST00000306200	ensembl	human	known	74_37	missense	18.03	49	11	SNP	0.999	A
STX18	53407	genome.wustl.edu	37	4	4422615	4422615	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:4422615C>A	ENST00000306200.2	-	10	951	c.888G>T	c.(886-888)aaG>aaT	p.K296N	STX18_ENST00000505286.1_Missense_Mutation_p.K296N	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	296	t-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CGTTGCCTTCCTTGATATTTT	0.493																																																	0													317.0	245.0	269.0					4																	4422615		2203	4300	6503	SO:0001583	missense	0			AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.888G>T	4.37:g.4422615C>A	ENSP00000305810:p.Lys296Asn		Q596L3|Q5TZP5	Missense_Mutation	SNP	pfam_Syntaxin-18_N	p.K296N	ENST00000306200.2	37	c.888	CCDS3377.1	4	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036687	0.54896	.	.	ENSG00000168818	ENST00000505286;ENST00000306200	T;T	0.25414	1.8;1.82	4.89	2.22	0.28083	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	L	0.55213	1.73	0.80722	D	1	P	0.52577	0.954	P	0.50754	0.649	T	0.01587	-1.1318	10	0.37606	T	0.19	-4.0E-4	8.6736	0.34165	0.0:0.5357:0.0:0.4643	.	296	Q9P2W9	STX18_HUMAN	N	296	ENSP00000426648:K296N;ENSP00000305810:K296N	ENSP00000305810:K296N	K	-	3	2	STX18	4473516	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	1.513000	0.35823	0.139000	0.18822	0.561000	0.74099	AAG	STX18	-	NULL	ENSG00000168818		0.493	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX18	HGNC	protein_coding	OTTHUMT00000206696.1	-	0.00	84	0	C			4422615	-1	tier1	-	no_errors	ENST00000306200	ensembl	human	known	74_37	missense	18.03	49	11	SNP	0.999	A
SULT6B1	391365	genome.wustl.edu	37	2	37410582	37410582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:37410582C>A	ENST00000535679.1	-	3	387	c.388G>T	c.(388-390)Gag>Tag	p.E130*	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Nonsense_Mutation_p.E92*|SULT6B1_ENST00000260637.3_Nonsense_Mutation_p.E92*			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	130						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GCTTTATTCTCGAAGATAGAC	0.353																																																	0													121.0	120.0	120.0					2																	37410582		2203	4300	6503	SO:0001587	stop_gained	0			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.388G>T	2.37:g.37410582C>A	ENSP00000444081:p.Glu130*		B2RTS7	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.E130*	ENST00000535679.1	37	c.388		2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057955	0.76074	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	.	.	.	4.73	-0.489	0.12052	.	0.926428	0.09255	N	0.827297	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	11.1871	0.48664	0.0:0.4906:0.0:0.5094	.	.	.	.	X	130;92;92	.	ENSP00000260637:E92X	E	-	1	0	SULT6B1	37264086	0.580000	0.26733	0.874000	0.34290	0.961000	0.63080	-0.449000	0.06812	-0.543000	0.06240	-1.208000	0.01637	GAG	SULT6B1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000138068		0.353	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	SULT6B1	HGNC	protein_coding		-	0.00	37	0	C	NM_001032377		37410582	-1	tier1	-	no_errors	ENST00000535679	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	0.676	A
SULT6B1	391365	genome.wustl.edu	37	2	37410582	37410582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:37410582C>A	ENST00000535679.1	-	3	387	c.388G>T	c.(388-390)Gag>Tag	p.E130*	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Nonsense_Mutation_p.E92*|SULT6B1_ENST00000260637.3_Nonsense_Mutation_p.E92*			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	130						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GCTTTATTCTCGAAGATAGAC	0.353																																																	0													121.0	120.0	120.0					2																	37410582		2203	4300	6503	SO:0001587	stop_gained	0			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.388G>T	2.37:g.37410582C>A	ENSP00000444081:p.Glu130*		B2RTS7	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.E130*	ENST00000535679.1	37	c.388		2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057955	0.76074	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	.	.	.	4.73	-0.489	0.12052	.	0.926428	0.09255	N	0.827297	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	11.1871	0.48664	0.0:0.4906:0.0:0.5094	.	.	.	.	X	130;92;92	.	ENSP00000260637:E92X	E	-	1	0	SULT6B1	37264086	0.580000	0.26733	0.874000	0.34290	0.961000	0.63080	-0.449000	0.06812	-0.543000	0.06240	-1.208000	0.01637	GAG	SULT6B1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000138068		0.353	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	SULT6B1	HGNC	protein_coding		-	0.00	64	0	C	NM_001032377		37410582	-1	tier1	-	no_errors	ENST00000535679	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	0.676	A
SUSD2	56241	genome.wustl.edu	37	22	24581898	24581898	+	Splice_Site	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:24581898G>T	ENST00000358321.3	+	8	1600		c.e8+1			NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2						immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCAAGACTGGGTGGGTGCCAT	0.667																																																	0													13.0	15.0	14.0					22																	24581898		2188	4290	6478	SO:0001630	splice_region_variant	0			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1339+1G>T	22.37:g.24581898G>T			Q9H5Y6	Splice_Site	SNP	-	e8+1	ENST00000358321.3	37	c.1339+1	CCDS13824.1	22	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351487	0.24512	.	.	ENSG00000099994	ENST00000358321	.	.	.	4.5	3.48	0.39840	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0759	0.48032	0.0944:0.0:0.9056:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUSD2	22911898	1.000000	0.71417	0.769000	0.31535	0.075000	0.17131	2.945000	0.49043	1.228000	0.43614	-0.266000	0.10368	.	SUSD2	-	-	ENSG00000099994		0.667	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1		0.00	82	0	G	NM_019601	Intron	24581898	+1			no_errors	ENST00000358321	ensembl	human	known	74_37	splice_site	10.71	25	3	SNP	1.000	T
SYNJ2	8871	genome.wustl.edu	37	6	158510932	158510932	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:158510932C>T	ENST00000355585.4	+	25	3593	c.3518C>T	c.(3517-3519)gCc>gTc	p.A1173V	SYNJ2_ENST00000367112.1_Missense_Mutation_p.A258V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1128V|SYNJ2_ENST00000367121.3_Missense_Mutation_p.A1173V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1173					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACCACCAATGCCCAGGAGGCA	0.493																																																	0													74.0	66.0	68.0					6																	158510932		2203	4300	6503	SO:0001583	missense	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3518C>T	6.37:g.158510932C>T	ENSP00000347792:p.Ala1173Val		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.A1173V	ENST00000355585.4	37	c.3518	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786429	0.70337	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94758	-3.51;-3.41;-3.23;0.63	5.38	5.38	0.77491	.	0.102583	0.43416	D	0.000579	D	0.89825	0.6827	L	0.32530	0.975	0.80722	D	1	P;P;P	0.51057	0.941;0.757;0.743	P;B;B	0.48425	0.577;0.293;0.392	T	0.80946	-0.1155	10	0.40728	T	0.16	.	19.1543	0.93504	0.0:1.0:0.0:0.0	.	568;1173;1173	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	V	1128;1173;1173;258	ENSP00000356089:A1128V;ENSP00000356088:A1173V;ENSP00000347792:A1173V;ENSP00000356079:A258V	ENSP00000347792:A1173V	A	+	2	0	SYNJ2	158430920	0.970000	0.33590	0.425000	0.26659	0.742000	0.42306	5.022000	0.64078	-1.981000	0.00989	-1.102000	0.02115	GCC	SYNJ2	-	NULL	ENSG00000078269		0.493	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	-	0.00	38	0	C			158510932	+1	tier1	-	no_errors	ENST00000355585	ensembl	human	known	74_37	missense	11.63	38	5	SNP	0.823	T
SYNJ2	8871	genome.wustl.edu	37	6	158510932	158510932	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:158510932C>T	ENST00000355585.4	+	25	3593	c.3518C>T	c.(3517-3519)gCc>gTc	p.A1173V	SYNJ2_ENST00000367112.1_Missense_Mutation_p.A258V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1128V|SYNJ2_ENST00000367121.3_Missense_Mutation_p.A1173V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1173					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACCACCAATGCCCAGGAGGCA	0.493																																																	0													74.0	66.0	68.0					6																	158510932		2203	4300	6503	SO:0001583	missense	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3518C>T	6.37:g.158510932C>T	ENSP00000347792:p.Ala1173Val		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.A1173V	ENST00000355585.4	37	c.3518	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786429	0.70337	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94758	-3.51;-3.41;-3.23;0.63	5.38	5.38	0.77491	.	0.102583	0.43416	D	0.000579	D	0.89825	0.6827	L	0.32530	0.975	0.80722	D	1	P;P;P	0.51057	0.941;0.757;0.743	P;B;B	0.48425	0.577;0.293;0.392	T	0.80946	-0.1155	10	0.40728	T	0.16	.	19.1543	0.93504	0.0:1.0:0.0:0.0	.	568;1173;1173	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	V	1128;1173;1173;258	ENSP00000356089:A1128V;ENSP00000356088:A1173V;ENSP00000347792:A1173V;ENSP00000356079:A258V	ENSP00000347792:A1173V	A	+	2	0	SYNJ2	158430920	0.970000	0.33590	0.425000	0.26659	0.742000	0.42306	5.022000	0.64078	-1.981000	0.00989	-1.102000	0.02115	GCC	SYNJ2	-	NULL	ENSG00000078269		0.493	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	-	0.00	46	0	C			158510932	+1	tier1	-	no_errors	ENST00000355585	ensembl	human	known	74_37	missense	11.63	38	5	SNP	0.823	T
TAF3	83860	genome.wustl.edu	37	10	8005880	8005881	+	Intron	INS	-	-	AGA	rs553036847		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:8005880_8005881insAGA	ENST00000344293.5	+	3	615					NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa						maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCCTTTACCAGAAGAAGAAG	0.351																																																	0																																										SO:0001627	intron_variant	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.410-2->AGA	10.37:g.8005887_8005889dupAGA			Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Splice_Site	INS	-	e3-2	ENST00000344293.5	37	c.410-3_410-2	CCDS41487.1	10																																																																																			TAF3	-	-	ENSG00000165632		0.351	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1		0.00	29	0	-	NM_031923		8005881	+1	tier1		no_errors	ENST00000344293	ensembl	human	known	74_37	splice_site_ins	15.38	22	4	INS	0.602:1.000	AGA
TAF3	83860	genome.wustl.edu	37	10	8005880	8005881	+	Intron	INS	-	-	AGA	rs553036847		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:8005880_8005881insAGA	ENST00000344293.5	+	3	615					NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa						maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCCTTTACCAGAAGAAGAAG	0.351																																																	0																																										SO:0001627	intron_variant	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.410-2->AGA	10.37:g.8005887_8005889dupAGA			Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Splice_Site	INS	-	e3-2	ENST00000344293.5	37	c.410-3_410-2	CCDS41487.1	10																																																																																			TAF3	-	-	ENSG00000165632		0.351	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1		0.00	33	0	-	NM_031923		8005881	+1	tier1		no_errors	ENST00000344293	ensembl	human	known	74_37	splice_site_ins	15.38	22	4	INS	0.602:1.000	AGA
TACC2	10579	genome.wustl.edu	37	10	123846540	123846540	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:123846540T>G	ENST00000369005.1	+	4	4865	c.4525T>G	c.(4525-4527)Ttg>Gtg	p.L1509V	TACC2_ENST00000334433.3_Missense_Mutation_p.L1509V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.L1509V|TACC2_ENST00000515273.1_Missense_Mutation_p.L1509V|TACC2_ENST00000515603.1_Missense_Mutation_p.L1509V|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1509					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGCGGAACTTGCCAGGTGC	0.632																																																	0													46.0	47.0	47.0					10																	123846540		2203	4300	6503	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4525T>G	10.37:g.123846540T>G	ENSP00000358001:p.Leu1509Val		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.L1509V	ENST00000369005.1	37	c.4525	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	T	14.66	2.601461	0.46423	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.11385	3.58;2.78;3.5;3.58;2.78	5.24	2.32	0.28847	.	1.648780	0.04683	N	0.412760	T	0.16300	0.0392	L	0.29908	0.895	0.09310	N	1	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.55615	0.78;0.78;0.78	T	0.16482	-1.0401	10	0.62326	D	0.03	-0.0351	5.0809	0.14656	0.165:0.6548:0.0:0.1801	.	1509;1509;1509	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	1509;1509;1509;1509;1509;1499	ENSP00000358001:L1509V;ENSP00000424467:L1509V;ENSP00000427618:L1509V;ENSP00000334280:L1509V;ENSP00000395048:L1509V	ENSP00000334280:L1509V	L	+	1	2	TACC2	123836530	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.675000	0.25232	0.184000	0.20083	-0.487000	0.04747	TTG	TACC2	-	NULL	ENSG00000138162		0.632	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	-	0.00	65	0	T			123846540	+1	tier1	-	no_errors	ENST00000334433	ensembl	human	known	74_37	missense	20.93	33	9	SNP	0.036	G
TANK	10010	genome.wustl.edu	37	2	162036360	162036361	+	Intron	DNP	GA	GA	TT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:162036360_162036361GA>TT	ENST00000392749.2	+	2	338				TANK_ENST00000406287.1_Intron|TANK_ENST00000405852.1_Intron|TANK_ENST00000403609.1_Intron|TANK_ENST00000259075.2_Intron|TANK_ENST00000402568.1_Intron|TANK_ENST00000457476.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TATATTGTTAGAAATTGCCCTG	0.282																																																	0																																										SO:0001627	intron_variant	0			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	Exception_encountered	2.37:g.162036360_162036361delinsTT			D3DPB5|Q7Z4J6|Q92885	RNA	SNP	-	NULL	ENST00000392749.2	37	NULL	CCDS2215.1	2																																																																																			TANK	-	-	ENSG00000136560		0.282	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	-	0.00	31	0	G|A	NM_133484		162036360|162036361	+1	tier1	-	no_errors	ENST00000463502	ensembl	human	putative	74_37	rna	15.56	38	7	SNP	0.073|0.092	T
TANK	10010	genome.wustl.edu	37	2	162036360	162036361	+	Intron	DNP	GA	GA	TT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:162036360_162036361GA>TT	ENST00000392749.2	+	2	338				TANK_ENST00000406287.1_Intron|TANK_ENST00000405852.1_Intron|TANK_ENST00000403609.1_Intron|TANK_ENST00000259075.2_Intron|TANK_ENST00000402568.1_Intron|TANK_ENST00000457476.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TATATTGTTAGAAATTGCCCTG	0.282																																																	0																																										SO:0001627	intron_variant	0			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	Exception_encountered	2.37:g.162036360_162036361delinsTT			D3DPB5|Q7Z4J6|Q92885	RNA	SNP	-	NULL	ENST00000392749.2	37	NULL	CCDS2215.1	2																																																																																			TANK	-	-	ENSG00000136560		0.282	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	-	0.00	31|45	0	G|A	NM_133484		162036360|162036361	+1	tier1	-	no_errors	ENST00000463502	ensembl	human	putative	74_37	rna	15.56	38	7	SNP	0.073|0.092	T
TANK	10010	genome.wustl.edu	37	2	162036360	162036361	+	Intron	DNP	GA	GA	TT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:162036360_162036361GA>TT	ENST00000392749.2	+	2	338				TANK_ENST00000406287.1_Intron|TANK_ENST00000405852.1_Intron|TANK_ENST00000403609.1_Intron|TANK_ENST00000259075.2_Intron|TANK_ENST00000402568.1_Intron|TANK_ENST00000457476.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TATATTGTTAGAAATTGCCCTG	0.282																																																	0																																										SO:0001627	intron_variant	0			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	Exception_encountered	2.37:g.162036360_162036361delinsTT			D3DPB5|Q7Z4J6|Q92885	RNA	SNP	-	NULL	ENST00000392749.2	37	NULL	CCDS2215.1	2																																																																																			TANK	-	-	ENSG00000136560		0.282	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	-	0.00	45|31	0	G|A	NM_133484		162036360|162036361	+1	tier1	-	no_errors	ENST00000463502	ensembl	human	putative	74_37	rna	15.56	38	7	SNP	0.073|0.092	T
TANK	10010	genome.wustl.edu	37	2	162036360	162036361	+	Intron	DNP	GA	GA	TT			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:162036360_162036361GA>TT	ENST00000392749.2	+	2	338				TANK_ENST00000406287.1_Intron|TANK_ENST00000405852.1_Intron|TANK_ENST00000403609.1_Intron|TANK_ENST00000259075.2_Intron|TANK_ENST00000402568.1_Intron|TANK_ENST00000457476.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TATATTGTTAGAAATTGCCCTG	0.282																																																	0																																										SO:0001627	intron_variant	0			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	Exception_encountered	2.37:g.162036360_162036361delinsTT			D3DPB5|Q7Z4J6|Q92885	RNA	SNP	-	NULL	ENST00000392749.2	37	NULL	CCDS2215.1	2																																																																																			TANK	-	-	ENSG00000136560		0.282	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	-	0.00	45	0	G|A	NM_133484		162036360|162036361	+1	tier1	-	no_errors	ENST00000463502	ensembl	human	putative	74_37	rna	15.56	38	7	SNP	0.073|0.092	T
TAS1R2	80834	genome.wustl.edu	37	1	19181144	19181144	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:19181144C>T	ENST00000375371.3	-	3	841	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	274					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.V274M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGCGAGAACACGACCACGACG	0.627																																																	1	Substitution - Missense(1)	lung(1)											70.0	61.0	64.0					1																	19181144		2203	4300	6503	SO:0001583	missense	0				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.820G>A	1.37:g.19181144C>T	ENSP00000364520:p.Val274Met		Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.V274M	ENST00000375371.3	37	c.820	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830089	0.50845	.	.	ENSG00000179002	ENST00000375371	D	0.83755	-1.76	4.99	-3.83	0.04269	Extracellular ligand-binding receptor (1);	0.856575	0.09782	N	0.756542	D	0.86957	0.6058	M	0.81682	2.555	0.19300	N	0.999979	D	0.69078	0.997	P	0.58130	0.833	T	0.80336	-0.1425	10	0.87932	D	0	.	8.5563	0.33483	0.0:0.3452:0.4546:0.2002	.	274	Q8TE23	TS1R2_HUMAN	M	274	ENSP00000364520:V274M	ENSP00000364520:V274M	V	-	1	0	TAS1R2	19053731	0.117000	0.22190	0.000000	0.03702	0.349000	0.29174	0.675000	0.25232	-0.997000	0.03450	0.561000	0.74099	GTG	TAS1R2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000179002		0.627	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1		0.00	33	0	C			19181144	-1			no_errors	ENST00000375371	ensembl	human	novel	74_37	missense	15.00	17	3	SNP	0.087	T
TAS2R46	259292	genome.wustl.edu	37	12	11214685	11214685	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:11214685T>G	ENST00000533467.1	-	1	208	c.209A>C	c.(208-210)gAg>gCg	p.E70A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	70					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGGATTCAACTCAGTTGCATA	0.403																																																	0													63.0	62.0	63.0					12																	11214685		1985	4196	6181	SO:0001583	missense	0			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.209A>C	12.37:g.11214685T>G	ENSP00000436450:p.Glu70Ala		P59548|Q645X6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.E70A	ENST00000533467.1	37	c.209	CCDS53748.1	12	.	.	.	.	.	.	.	.	.	.	T	6.171	0.399752	0.11696	.	.	ENSG00000226761	ENST00000533467	T	0.35605	1.3	2.54	-0.123	0.13527	.	.	.	.	.	T	0.27798	0.0684	L	0.47716	1.5	0.09310	N	1	B	0.20368	0.044	B	0.25987	0.065	T	0.36625	-0.9740	9	0.62326	D	0.03	.	2.5107	0.04656	0.4393:0.0:0.1365:0.4242	.	70	P59540	T2R46_HUMAN	A	70	ENSP00000436450:E70A	ENSP00000436450:E70A	E	-	2	0	TAS2R46	11105952	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.214000	0.17541	-0.131000	0.11578	-1.636000	0.00776	GAG	TAS2R46	-	pfam_TAS2_rcpt	ENSG00000226761		0.403	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R46	HGNC	protein_coding	OTTHUMT00000383559.1	-	0.00	73	0	T	NM_176887		11214685	-1	tier1	-	no_errors	ENST00000533467	ensembl	human	known	74_37	missense	32.00	68	32	SNP	0.000	G
TAS2R46	259292	genome.wustl.edu	37	12	11214685	11214685	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:11214685T>G	ENST00000533467.1	-	1	208	c.209A>C	c.(208-210)gAg>gCg	p.E70A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	70					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGGATTCAACTCAGTTGCATA	0.403																																																	0													63.0	62.0	63.0					12																	11214685		1985	4196	6181	SO:0001583	missense	0			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.209A>C	12.37:g.11214685T>G	ENSP00000436450:p.Glu70Ala		P59548|Q645X6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.E70A	ENST00000533467.1	37	c.209	CCDS53748.1	12	.	.	.	.	.	.	.	.	.	.	T	6.171	0.399752	0.11696	.	.	ENSG00000226761	ENST00000533467	T	0.35605	1.3	2.54	-0.123	0.13527	.	.	.	.	.	T	0.27798	0.0684	L	0.47716	1.5	0.09310	N	1	B	0.20368	0.044	B	0.25987	0.065	T	0.36625	-0.9740	9	0.62326	D	0.03	.	2.5107	0.04656	0.4393:0.0:0.1365:0.4242	.	70	P59540	T2R46_HUMAN	A	70	ENSP00000436450:E70A	ENSP00000436450:E70A	E	-	2	0	TAS2R46	11105952	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.214000	0.17541	-0.131000	0.11578	-1.636000	0.00776	GAG	TAS2R46	-	pfam_TAS2_rcpt	ENSG00000226761		0.403	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R46	HGNC	protein_coding	OTTHUMT00000383559.1	-	0.00	96	0	T	NM_176887		11214685	-1	tier1	-	no_errors	ENST00000533467	ensembl	human	known	74_37	missense	32.00	68	32	SNP	0.000	G
TAS2R30	259293	genome.wustl.edu	37	12	11286090	11286090	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:11286090A>T	ENST00000539585.1	-	1	1153	c.754T>A	c.(754-756)Ttt>Att	p.F252I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	252			F -> L (in dbSNP:rs2599404). {ECO:0000269|PubMed:15496549}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGCCTCCCAAAATTACAAACT	0.413																																																	0													133.0	142.0	139.0					12																	11286090		2202	4299	6501	SO:0001583	missense	0			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.754T>A	12.37:g.11286090A>T	ENSP00000444736:p.Phe252Ile		Q645X7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.F252I	ENST00000539585.1	37	c.754	CCDS53750.1	12	.	.	.	.	.	.	.	.	.	.	-	5.129	0.209473	0.09757	.	.	ENSG00000256188	ENST00000539585	T	0.36878	1.23	2.6	0.037	0.14194	.	.	.	.	.	T	0.31358	0.0794	L	0.56199	1.76	0.09310	N	1	.	.	.	.	.	.	T	0.29882	-0.9997	7	0.21540	T	0.41	.	4.5879	0.12291	0.6688:0.0:0.3312:0.0	.	.	.	.	I	252	ENSP00000444736:F252I	ENSP00000444736:F252I	F	-	1	0	TAS2R30	11177357	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.733000	0.26087	-0.107000	0.12088	0.260000	0.18958	TTT	TAS2R30	-	pfam_TAS2_rcpt	ENSG00000256188		0.413	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	-	0.00	156	0	A	NM_001097643		11286090	-1	tier1	-	no_errors	ENST00000539585	ensembl	human	known	74_37	missense	23.36	105	32	SNP	0.000	T
TAS2R30	259293	genome.wustl.edu	37	12	11286090	11286090	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:11286090A>T	ENST00000539585.1	-	1	1153	c.754T>A	c.(754-756)Ttt>Att	p.F252I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	252			F -> L (in dbSNP:rs2599404). {ECO:0000269|PubMed:15496549}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGCCTCCCAAAATTACAAACT	0.413																																																	0													133.0	142.0	139.0					12																	11286090		2202	4299	6501	SO:0001583	missense	0			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.754T>A	12.37:g.11286090A>T	ENSP00000444736:p.Phe252Ile		Q645X7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.F252I	ENST00000539585.1	37	c.754	CCDS53750.1	12	.	.	.	.	.	.	.	.	.	.	-	5.129	0.209473	0.09757	.	.	ENSG00000256188	ENST00000539585	T	0.36878	1.23	2.6	0.037	0.14194	.	.	.	.	.	T	0.31358	0.0794	L	0.56199	1.76	0.09310	N	1	.	.	.	.	.	.	T	0.29882	-0.9997	7	0.21540	T	0.41	.	4.5879	0.12291	0.6688:0.0:0.3312:0.0	.	.	.	.	I	252	ENSP00000444736:F252I	ENSP00000444736:F252I	F	-	1	0	TAS2R30	11177357	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.733000	0.26087	-0.107000	0.12088	0.260000	0.18958	TTT	TAS2R30	-	pfam_TAS2_rcpt	ENSG00000256188		0.413	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	-	0.00	182	0	A	NM_001097643		11286090	-1	tier1	-	no_errors	ENST00000539585	ensembl	human	known	74_37	missense	23.36	105	32	SNP	0.000	T
TATDN1	83940	genome.wustl.edu	37	8	125531026	125531027	+	Intron	INS	-	-	T	rs76737368|rs76509361|rs377315276		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:125531026_125531027insT	ENST00000276692.6	-	4	240				TATDN1_ENST00000519548.1_Intron|TATDN1_ENST00000605953.1_Intron|TATDN1_ENST00000521546.1_Intron|TATDN1_ENST00000517678.1_Intron	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TACTTAATTCATTTTTTTTTTG	0.322																																																	0																																										SO:0001627	intron_variant	0			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.202+31->A	8.37:g.125531036_125531036dupT			B2R5J0|Q8TD02|Q9BY40	Frame_Shift_Ins	INS	NULL	p.*62fs	ENST00000276692.6	37	c.187_186	CCDS6351.1	8																																																																																			TATDN1	-	NULL	ENSG00000147687		0.322	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN1	HGNC	protein_coding	OTTHUMT00000381655.1		0.00	20	0	-	NM_032026		125531027	-1	tier1		no_errors	ENST00000520938	ensembl	human	known	74_37	frame_shift_ins	15.38	22	4	INS	0.019:0.004	T
TBC1D2B	23102	genome.wustl.edu	37	15	78317636	78317636	+	Silent	SNP	G	G	A	rs370550166		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:78317636G>A	ENST00000300584.3	-	5	1050	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	TBC1D2B_ENST00000409931.3_Silent_p.L351L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	351							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AACTGTTCCAGCTCTTCCTGC	0.547																																																	0													111.0	97.0	102.0					15																	78317636		2196	4293	6489	SO:0001819	synonymous_variant	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1051C>T	15.37:g.78317636G>A			A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.L351	ENST00000300584.3	37	c.1051	CCDS45314.1	15																																																																																			TBC1D2B	-	NULL	ENSG00000167202		0.547	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	-	0.00	79	0	G	NM_015079		78317636	-1	tier1	-	no_errors	ENST00000300584	ensembl	human	known	74_37	silent	13.16	33	5	SNP	1.000	A
TBC1D2B	23102	genome.wustl.edu	37	15	78317636	78317636	+	Silent	SNP	G	G	A	rs370550166		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:78317636G>A	ENST00000300584.3	-	5	1050	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	TBC1D2B_ENST00000409931.3_Silent_p.L351L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	351							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AACTGTTCCAGCTCTTCCTGC	0.547																																																	0													111.0	97.0	102.0					15																	78317636		2196	4293	6489	SO:0001819	synonymous_variant	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1051C>T	15.37:g.78317636G>A			A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.L351	ENST00000300584.3	37	c.1051	CCDS45314.1	15																																																																																			TBC1D2B	-	NULL	ENSG00000167202		0.547	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	-	0.00	89	0	G	NM_015079		78317636	-1	tier1	-	no_errors	ENST00000300584	ensembl	human	known	74_37	silent	13.16	33	5	SNP	1.000	A
TBC1D9	23158	genome.wustl.edu	37	4	141583207	141583207	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:141583207T>A	ENST00000442267.2	-	10	1717	c.1643A>T	c.(1642-1644)aAg>aTg	p.K548M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	548	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCCCATGGACTTCTCCACTAG	0.473																																																	0													187.0	181.0	182.0					4																	141583207		1936	4144	6080	SO:0001583	missense	0			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1643A>T	4.37:g.141583207T>A	ENSP00000411197:p.Lys548Met		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.K548M	ENST00000442267.2	37	c.1643	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	T	19.63	3.862890	0.71949	.	.	ENSG00000109436	ENST00000442267	T	0.05025	3.51	5.7	4.53	0.55603	Rab-GAP/TBC domain (4);	0.091491	0.64402	D	0.000001	T	0.16257	0.0391	L	0.55213	1.73	0.80722	D	1	D	0.58970	0.984	P	0.61275	0.886	T	0.00289	-1.1844	10	0.66056	D	0.02	-9.5268	10.0109	0.41986	0.0:0.139:0.0:0.861	.	548	Q6ZT07	TBCD9_HUMAN	M	548	ENSP00000411197:K548M	ENSP00000411197:K548M	K	-	2	0	TBC1D9	141802657	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.796000	0.47869	1.004000	0.39156	0.533000	0.62120	AAG	TBC1D9	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000109436		0.473	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	-	0.00	130	0	T	NM_015130		141583207	-1	tier1	-	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	10.84	74	9	SNP	1.000	A
TBC1D9	23158	genome.wustl.edu	37	4	141583207	141583207	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:141583207T>A	ENST00000442267.2	-	10	1717	c.1643A>T	c.(1642-1644)aAg>aTg	p.K548M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	548	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCCCATGGACTTCTCCACTAG	0.473																																																	0													187.0	181.0	182.0					4																	141583207		1936	4144	6080	SO:0001583	missense	0			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1643A>T	4.37:g.141583207T>A	ENSP00000411197:p.Lys548Met		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.K548M	ENST00000442267.2	37	c.1643	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	T	19.63	3.862890	0.71949	.	.	ENSG00000109436	ENST00000442267	T	0.05025	3.51	5.7	4.53	0.55603	Rab-GAP/TBC domain (4);	0.091491	0.64402	D	0.000001	T	0.16257	0.0391	L	0.55213	1.73	0.80722	D	1	D	0.58970	0.984	P	0.61275	0.886	T	0.00289	-1.1844	10	0.66056	D	0.02	-9.5268	10.0109	0.41986	0.0:0.139:0.0:0.861	.	548	Q6ZT07	TBCD9_HUMAN	M	548	ENSP00000411197:K548M	ENSP00000411197:K548M	K	-	2	0	TBC1D9	141802657	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.796000	0.47869	1.004000	0.39156	0.533000	0.62120	AAG	TBC1D9	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000109436		0.473	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	-	0.00	81	0	T	NM_015130		141583207	-1	tier1	-	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	10.84	74	9	SNP	1.000	A
TBX22	50945	genome.wustl.edu	37	X	79286419	79286419	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:79286419T>C	ENST00000373294.5	+	8	1400	c.1372T>C	c.(1372-1374)Tcc>Ccc	p.S458P	TBX22_ENST00000442340.1_Missense_Mutation_p.S338P|TBX22_ENST00000373291.1_Missense_Mutation_p.S338P|TBX22_ENST00000373296.3_Missense_Mutation_p.S458P	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	458					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTGCCAAACTCCATCACCCC	0.383																																																	0													132.0	121.0	124.0					X																	79286419		2203	4300	6503	SO:0001583	missense	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1372T>C	X.37:g.79286419T>C	ENSP00000362390:p.Ser458Pro		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S458P	ENST00000373294.5	37	c.1372	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.024242	0.00414	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	3.96	-4.5	0.03493	.	2.519990	0.01360	N	0.012188	T	0.44561	0.1299	N	0.00500	-1.43	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.47058	-0.9146	10	0.23302	T	0.38	.	7.1817	0.25776	0.0:0.268:0.1286:0.6034	.	458	Q9Y458	TBX22_HUMAN	P	458;338;458;338	ENSP00000362393:S458P;ENSP00000396394:S338P;ENSP00000362390:S458P;ENSP00000362388:S338P	ENSP00000362388:S338P	S	+	1	0	TBX22	79173075	0.070000	0.21116	0.000000	0.03702	0.004000	0.04260	-0.072000	0.11486	-1.560000	0.01686	-0.378000	0.06908	TCC	TBX22	-	NULL	ENSG00000122145		0.383	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	-	0.00	17	0	T	NM_016954		79286419	+1	tier1	-	no_errors	ENST00000373294	ensembl	human	known	74_37	missense	55.56	12	15	SNP	0.023	C
TBX22	50945	genome.wustl.edu	37	X	79286419	79286419	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:79286419T>C	ENST00000373294.5	+	8	1400	c.1372T>C	c.(1372-1374)Tcc>Ccc	p.S458P	TBX22_ENST00000442340.1_Missense_Mutation_p.S338P|TBX22_ENST00000373291.1_Missense_Mutation_p.S338P|TBX22_ENST00000373296.3_Missense_Mutation_p.S458P	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	458					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTGCCAAACTCCATCACCCC	0.383																																																	0													132.0	121.0	124.0					X																	79286419		2203	4300	6503	SO:0001583	missense	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1372T>C	X.37:g.79286419T>C	ENSP00000362390:p.Ser458Pro		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S458P	ENST00000373294.5	37	c.1372	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.024242	0.00414	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	3.96	-4.5	0.03493	.	2.519990	0.01360	N	0.012188	T	0.44561	0.1299	N	0.00500	-1.43	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.47058	-0.9146	10	0.23302	T	0.38	.	7.1817	0.25776	0.0:0.268:0.1286:0.6034	.	458	Q9Y458	TBX22_HUMAN	P	458;338;458;338	ENSP00000362393:S458P;ENSP00000396394:S338P;ENSP00000362390:S458P;ENSP00000362388:S338P	ENSP00000362388:S338P	S	+	1	0	TBX22	79173075	0.070000	0.21116	0.000000	0.03702	0.004000	0.04260	-0.072000	0.11486	-1.560000	0.01686	-0.378000	0.06908	TCC	TBX22	-	NULL	ENSG00000122145		0.383	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	-	0.00	39	0	T	NM_016954		79286419	+1	tier1	-	no_errors	ENST00000373294	ensembl	human	known	74_37	missense	55.56	12	15	SNP	0.023	C
TBX5	6910	genome.wustl.edu	37	12	114836398	114836398	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:114836398G>C	ENST00000310346.4	-	5	1156	c.490C>G	c.(490-492)Cac>Gac	p.H164D	TBX5_ENST00000349716.5_Missense_Mutation_p.H114D|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.H164D|TBX5_ENST00000405440.2_Missense_Mutation_p.H164D	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	164					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGTCCAGGTGGTTGTTGGTG	0.602																																					NSCLC(152;1358 1980 4050 23898 40356)												0													107.0	78.0	88.0					12																	114836398		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.490C>G	12.37:g.114836398G>C	ENSP00000309913:p.His164Asp		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.H164D	ENST00000310346.4	37	c.490	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121370	0.77436	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	4.35	4.35	0.52113	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.90058	0.6895	L	0.39245	1.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.989;0.991	D	0.88357	0.2985	10	0.29301	T	0.29	.	17.429	0.87534	0.0:0.0:1.0:0.0	.	164;164	Q99593-2;Q99593	.;TBX5_HUMAN	D	114;164;61;164;164	ENSP00000337723:H114D;ENSP00000309913:H164D;ENSP00000384152:H164D;ENSP00000433292:H164D	ENSP00000309913:H164D	H	-	1	0	TBX5	113320781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.616000	0.83018	2.392000	0.81423	0.655000	0.94253	CAC	TBX5	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000089225		0.602	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	-	0.00	110	0	G	NM_080717		114836398	-1	tier1	-	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	10.23	79	9	SNP	1.000	C
TBX5	6910	genome.wustl.edu	37	12	114836398	114836398	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:114836398G>C	ENST00000310346.4	-	5	1156	c.490C>G	c.(490-492)Cac>Gac	p.H164D	TBX5_ENST00000349716.5_Missense_Mutation_p.H114D|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.H164D|TBX5_ENST00000405440.2_Missense_Mutation_p.H164D	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	164					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGTCCAGGTGGTTGTTGGTG	0.602																																					NSCLC(152;1358 1980 4050 23898 40356)												0													107.0	78.0	88.0					12																	114836398		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.490C>G	12.37:g.114836398G>C	ENSP00000309913:p.His164Asp		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.H164D	ENST00000310346.4	37	c.490	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121370	0.77436	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	4.35	4.35	0.52113	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.90058	0.6895	L	0.39245	1.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.989;0.991	D	0.88357	0.2985	10	0.29301	T	0.29	.	17.429	0.87534	0.0:0.0:1.0:0.0	.	164;164	Q99593-2;Q99593	.;TBX5_HUMAN	D	114;164;61;164;164	ENSP00000337723:H114D;ENSP00000309913:H164D;ENSP00000384152:H164D;ENSP00000433292:H164D	ENSP00000309913:H164D	H	-	1	0	TBX5	113320781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.616000	0.83018	2.392000	0.81423	0.655000	0.94253	CAC	TBX5	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000089225		0.602	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	-	0.00	87	0	G	NM_080717		114836398	-1	tier1	-	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	10.23	79	9	SNP	1.000	C
TDRD7	23424	genome.wustl.edu	37	9	100234625	100234625	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:100234625T>C	ENST00000355295.4	+	10	2087	c.1792T>C	c.(1792-1794)Tta>Cta	p.L598L	TDRD7_ENST00000422139.2_Silent_p.L524L|TDRD7_ENST00000540902.1_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	598					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GGTTGAATCTTTAACTTGTGG	0.348																																																	0													166.0	161.0	163.0					9																	100234625		2203	4300	6503	SO:0001819	synonymous_variant	0			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1792T>C	9.37:g.100234625T>C			A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L598	ENST00000355295.4	37	c.1792	CCDS6725.1	9																																																																																			TDRD7	-	NULL	ENSG00000196116		0.348	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD7	HGNC	protein_coding	OTTHUMT00000053322.1	-	0.00	62	0	T	NM_014290		100234625	+1	tier1	-	no_errors	ENST00000355295	ensembl	human	known	74_37	silent	22.47	69	20	SNP	0.024	C
TDRD7	23424	genome.wustl.edu	37	9	100234625	100234625	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:100234625T>C	ENST00000355295.4	+	10	2087	c.1792T>C	c.(1792-1794)Tta>Cta	p.L598L	TDRD7_ENST00000422139.2_Silent_p.L524L|TDRD7_ENST00000540902.1_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	598					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GGTTGAATCTTTAACTTGTGG	0.348																																																	0													166.0	161.0	163.0					9																	100234625		2203	4300	6503	SO:0001819	synonymous_variant	0			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1792T>C	9.37:g.100234625T>C			A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L598	ENST00000355295.4	37	c.1792	CCDS6725.1	9																																																																																			TDRD7	-	NULL	ENSG00000196116		0.348	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD7	HGNC	protein_coding	OTTHUMT00000053322.1	-	0.00	86	0	T	NM_014290		100234625	+1	tier1	-	no_errors	ENST00000355295	ensembl	human	known	74_37	silent	22.47	69	20	SNP	0.024	C
TEKT5	146279	genome.wustl.edu	37	16	10721434	10721434	+	3'UTR	SNP	C	C	T	rs571308426		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:10721434C>T	ENST00000283025.2	-	0	1535				TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5							cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGCGCCAGGGCGGTGCTCAGG	0.527																																																	0													50.0	53.0	52.0					16																	10721434		2197	4300	6497	SO:0001624	3_prime_UTR_variant	0				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.*6G>A	16.37:g.10721434C>T			A1L3Z3	RNA	SNP	-	NULL	ENST00000283025.2	37	NULL	CCDS10542.1	16																																																																																			TEKT5	-	-	ENSG00000153060		0.527	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	-	0.00	48	0	C	NM_144674		10721434	-1	tier1	-	no_errors	ENST00000574923	ensembl	human	known	74_37	rna	35.42	30	17	SNP	0.000	T
TEKT5	146279	genome.wustl.edu	37	16	10721434	10721434	+	3'UTR	SNP	C	C	T	rs571308426		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:10721434C>T	ENST00000283025.2	-	0	1535				TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5							cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGCGCCAGGGCGGTGCTCAGG	0.527																																																	0													50.0	53.0	52.0					16																	10721434		2197	4300	6497	SO:0001624	3_prime_UTR_variant	0				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.*6G>A	16.37:g.10721434C>T			A1L3Z3	RNA	SNP	-	NULL	ENST00000283025.2	37	NULL	CCDS10542.1	16																																																																																			TEKT5	-	-	ENSG00000153060		0.527	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	-	0.00	56	0	C	NM_144674		10721434	-1	tier1	-	no_errors	ENST00000574923	ensembl	human	known	74_37	rna	35.42	30	17	SNP	0.000	T
TENM1	10178	genome.wustl.edu	37	X	123657383	123657383	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:123657383C>G	ENST00000371130.3	-	17	2927	c.2864G>C	c.(2863-2865)tGg>tCg	p.W955S	TENM1_ENST00000422452.2_Missense_Mutation_p.W955S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	955					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AAACTGATTCCAAGGCAACCA	0.483																																																	0													150.0	124.0	133.0					X																	123657383		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2864G>C	X.37:g.123657383C>G	ENSP00000360171:p.Trp955Ser		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.W955S	ENST00000371130.3	37	c.2864	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770655	0.69992	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.12569	2.67;2.67	5.79	4.93	0.64822	.	0.203438	0.45126	D	0.000393	T	0.33673	0.0871	M	0.82323	2.585	0.80722	D	1	P;D;D	0.59767	0.728;0.986;0.984	B;P;P	0.54664	0.138;0.593;0.758	T	0.27123	-1.0083	10	0.72032	D	0.01	.	14.1675	0.65488	0.0:0.9263:0.0:0.0737	.	954;955;955	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	955	ENSP00000360171:W955S;ENSP00000403954:W955S	ENSP00000360171:W955S	W	-	2	0	ODZ1	123485064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.868000	0.69605	1.210000	0.43336	0.600000	0.82982	TGG	TENM1	-	superfamily_CarboxyPept-like_regulatory	ENSG00000009694		0.483	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0.00	54	0	C	NM_014253		123657383	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	44.64	31	25	SNP	1.000	G
TENM1	10178	genome.wustl.edu	37	X	123657383	123657383	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:123657383C>G	ENST00000371130.3	-	17	2927	c.2864G>C	c.(2863-2865)tGg>tCg	p.W955S	TENM1_ENST00000422452.2_Missense_Mutation_p.W955S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	955					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AAACTGATTCCAAGGCAACCA	0.483																																																	0													150.0	124.0	133.0					X																	123657383		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2864G>C	X.37:g.123657383C>G	ENSP00000360171:p.Trp955Ser		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.W955S	ENST00000371130.3	37	c.2864	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770655	0.69992	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.12569	2.67;2.67	5.79	4.93	0.64822	.	0.203438	0.45126	D	0.000393	T	0.33673	0.0871	M	0.82323	2.585	0.80722	D	1	P;D;D	0.59767	0.728;0.986;0.984	B;P;P	0.54664	0.138;0.593;0.758	T	0.27123	-1.0083	10	0.72032	D	0.01	.	14.1675	0.65488	0.0:0.9263:0.0:0.0737	.	954;955;955	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	955	ENSP00000360171:W955S;ENSP00000403954:W955S	ENSP00000360171:W955S	W	-	2	0	ODZ1	123485064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.868000	0.69605	1.210000	0.43336	0.600000	0.82982	TGG	TENM1	-	superfamily_CarboxyPept-like_regulatory	ENSG00000009694		0.483	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0.00	56	0	C	NM_014253		123657383	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	44.64	31	25	SNP	1.000	G
TENM3	55714	genome.wustl.edu	37	4	183271178	183271178	+	Intron	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:183271178T>G	ENST00000511685.1	+	3	634				TENM3_ENST00000406950.2_Intron			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3						camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATGAGGCTGTTTTTCCCAGAA	0.333																																																	0																																										SO:0001627	intron_variant	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.511+3096T>G	4.37:g.183271178T>G			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	RNA	SNP	-	NULL	ENST00000511685.1	37	NULL	CCDS47165.1	4																																																																																			TENM3	-	-	ENSG00000218336		0.333	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0.00	22	0	T			183271178	+1	tier1	-	no_errors	ENST00000513201	ensembl	human	known	74_37	rna	28.57	10	4	SNP	0.998	G
TERF2	7014	genome.wustl.edu	37	16	69395378	69395378	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:69395378T>G	ENST00000254942.3	-	8	1371	c.1355A>C	c.(1354-1356)aAg>aCg	p.K452T	TERF2_ENST00000603068.1_Missense_Mutation_p.K410T	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	452					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCTGTTCCACTTGCCTTTGGG	0.483																																					Ovarian(13;63 524 30420 31710 34037)												0													177.0	154.0	162.0					16																	69395378		2198	4300	6498	SO:0001583	missense	0				CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1355A>C	16.37:g.69395378T>G	ENSP00000254942:p.Lys452Thr			Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.K452T	ENST00000254942.3	37	c.1355		16	.	.	.	.	.	.	.	.	.	.	T	16.87	3.240736	0.58995	.	.	ENSG00000132604	ENST00000254942	.	.	.	5.09	3.99	0.46301	.	0.450728	0.25217	N	0.032279	T	0.59362	0.2188	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.56547	-0.7961	9	0.29301	T	0.29	-14.3626	4.6959	0.12804	0.1673:0.091:0.0:0.7418	.	410	Q15554	TERF2_HUMAN	T	410	.	ENSP00000254942:K410T	K	-	2	0	TERF2	67952879	0.893000	0.30496	1.000000	0.80357	0.906000	0.53458	0.685000	0.25378	0.884000	0.36064	0.448000	0.29417	AAG	TERF2	-	pirsf_Telomere_repeat-bd-1/2	ENSG00000132604		0.483	TERF2-001	KNOWN	basic	protein_coding	TERF2	HGNC	protein_coding	OTTHUMT00000268944.2	-	0.00	68	0	T			69395378	-1	tier1	-	no_errors	ENST00000254942	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	G
TERF2	7014	genome.wustl.edu	37	16	69395378	69395378	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:69395378T>G	ENST00000254942.3	-	8	1371	c.1355A>C	c.(1354-1356)aAg>aCg	p.K452T	TERF2_ENST00000603068.1_Missense_Mutation_p.K410T	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	452					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCTGTTCCACTTGCCTTTGGG	0.483																																					Ovarian(13;63 524 30420 31710 34037)												0													177.0	154.0	162.0					16																	69395378		2198	4300	6498	SO:0001583	missense	0				CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1355A>C	16.37:g.69395378T>G	ENSP00000254942:p.Lys452Thr			Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.K452T	ENST00000254942.3	37	c.1355		16	.	.	.	.	.	.	.	.	.	.	T	16.87	3.240736	0.58995	.	.	ENSG00000132604	ENST00000254942	.	.	.	5.09	3.99	0.46301	.	0.450728	0.25217	N	0.032279	T	0.59362	0.2188	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.56547	-0.7961	9	0.29301	T	0.29	-14.3626	4.6959	0.12804	0.1673:0.091:0.0:0.7418	.	410	Q15554	TERF2_HUMAN	T	410	.	ENSP00000254942:K410T	K	-	2	0	TERF2	67952879	0.893000	0.30496	1.000000	0.80357	0.906000	0.53458	0.685000	0.25378	0.884000	0.36064	0.448000	0.29417	AAG	TERF2	-	pirsf_Telomere_repeat-bd-1/2	ENSG00000132604		0.483	TERF2-001	KNOWN	basic	protein_coding	TERF2	HGNC	protein_coding	OTTHUMT00000268944.2	-	0.00	74	0	T			69395378	-1	tier1	-	no_errors	ENST00000254942	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	G
TESPA1	9840	genome.wustl.edu	37	12	55357537	55357537	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:55357537A>G	ENST00000449076.1	-	8	776	c.644T>C	c.(643-645)cTc>cCc	p.L215P	TESPA1_ENST00000532804.1_Missense_Mutation_p.L77P|TESPA1_ENST00000316577.8_Missense_Mutation_p.L215P|TESPA1_ENST00000531122.1_Missense_Mutation_p.L77P|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000524622.1_Missense_Mutation_p.L77P	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	215					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											GGCCAGCATGAGGCAGGGGTC	0.547																																																	0													39.0	43.0	42.0					12																	55357537		1924	4122	6046	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.644T>C	12.37:g.55357537A>G	ENSP00000400892:p.Leu215Pro		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.L215P	ENST00000449076.1	37	c.644	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157273	0.78114	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000532757;ENST00000531122;ENST00000526532	T;T;T;T;T	0.61274	0.12;0.12;0.39;0.39;0.12	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.72061	0.3414	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74816	-0.3536	10	0.87932	D	0	-1.1813	13.9255	0.63959	1.0:0.0:0.0:0.0	.	215	A2RU30	K0748_HUMAN	P	77;77;215;215;77;77;77	ENSP00000435622:L77P;ENSP00000432030:L77P;ENSP00000400892:L215P;ENSP00000312679:L215P;ENSP00000433098:L77P	ENSP00000312679:L215P	L	-	2	0	KIAA0748	53643804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.351000	0.90072	2.330000	0.79161	0.533000	0.62120	CTC	TESPA1	-	NULL	ENSG00000135426		0.547	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	-	0.00	102	0	A	NM_001098815		55357537	-1	tier1	-	no_errors	ENST00000316577	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	G
TESPA1	9840	genome.wustl.edu	37	12	55357537	55357537	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:55357537A>G	ENST00000449076.1	-	8	776	c.644T>C	c.(643-645)cTc>cCc	p.L215P	TESPA1_ENST00000532804.1_Missense_Mutation_p.L77P|TESPA1_ENST00000316577.8_Missense_Mutation_p.L215P|TESPA1_ENST00000531122.1_Missense_Mutation_p.L77P|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000524622.1_Missense_Mutation_p.L77P	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	215					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											GGCCAGCATGAGGCAGGGGTC	0.547																																																	0													39.0	43.0	42.0					12																	55357537		1924	4122	6046	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.644T>C	12.37:g.55357537A>G	ENSP00000400892:p.Leu215Pro		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.L215P	ENST00000449076.1	37	c.644	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157273	0.78114	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000532757;ENST00000531122;ENST00000526532	T;T;T;T;T	0.61274	0.12;0.12;0.39;0.39;0.12	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.72061	0.3414	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74816	-0.3536	10	0.87932	D	0	-1.1813	13.9255	0.63959	1.0:0.0:0.0:0.0	.	215	A2RU30	K0748_HUMAN	P	77;77;215;215;77;77;77	ENSP00000435622:L77P;ENSP00000432030:L77P;ENSP00000400892:L215P;ENSP00000312679:L215P;ENSP00000433098:L77P	ENSP00000312679:L215P	L	-	2	0	KIAA0748	53643804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.351000	0.90072	2.330000	0.79161	0.533000	0.62120	CTC	TESPA1	-	NULL	ENSG00000135426		0.547	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	-	0.00	71	0	A	NM_001098815		55357537	-1	tier1	-	no_errors	ENST00000316577	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	G
TET1	80312	genome.wustl.edu	37	10	70446324	70446325	+	Missense_Mutation	DNP	GA	GA	CG			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:70446324_70446325GA>CG	ENST00000373644.4	+	11	5473_5474	c.5264_5265GA>CG	c.(5263-5265)gGA>gCG	p.G1755A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1755					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCCGTTCTGGAAAGAAGAGGG	0.49																																																	0																																										SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	Exception_encountered	10.37:g.70446324_70446325delinsCG	ENSP00000362748:p.Gly1755Ala		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation|Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.G1755A|p.G1755	ENST00000373644.4	37	c.5264|c.5265	CCDS7281.1	10																																																																																			TET1	-	NULL	ENSG00000138336		0.490	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	-	0.00	86|101	0	G|A	NM_030625		70446324|70446325	+1	tier1	-	no_errors	ENST00000373644	ensembl	human	known	74_37	missense|silent	18.60|18.39	70|71	16	SNP	0.922|0.928	C|G
TET1	80312	genome.wustl.edu	37	10	70446324	70446325	+	Missense_Mutation	DNP	GA	GA	CG			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:70446324_70446325GA>CG	ENST00000373644.4	+	11	5473_5474	c.5264_5265GA>CG	c.(5263-5265)gGA>gCG	p.G1755A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1755					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCCGTTCTGGAAAGAAGAGGG	0.49																																																	0																																										SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	Exception_encountered	10.37:g.70446324_70446325delinsCG	ENSP00000362748:p.Gly1755Ala		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation|Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.G1755A|p.G1755	ENST00000373644.4	37	c.5264|c.5265	CCDS7281.1	10																																																																																			TET1	-	NULL	ENSG00000138336		0.490	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	-	0.00	86	0	G|A	NM_030625		70446324|70446325	+1	tier1	-	no_errors	ENST00000373644	ensembl	human	known	74_37	missense|silent	18.60|18.39	70|71	16	SNP	0.922|0.928	C|G
TET1	80312	genome.wustl.edu	37	10	70450805	70450805	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:70450805C>T	ENST00000373644.4	+	12	5854	c.5645C>T	c.(5644-5646)aCg>aTg	p.T1882M		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1882					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCCACTGTACGATGCCTTCG	0.577																																																	0													76.0	68.0	70.0					10																	70450805		2203	4300	6503	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5645C>T	10.37:g.70450805C>T	ENSP00000362748:p.Thr1882Met		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.T1882M	ENST00000373644.4	37	c.5645	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567028	0.28003	.	.	ENSG00000138336	ENST00000373644	T	0.08008	3.14	5.55	3.66	0.41972	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.865726	0.09616	N	0.778291	T	0.18383	0.0441	L	0.61218	1.895	0.09310	N	1	D	0.64830	0.994	P	0.58577	0.841	T	0.17077	-1.0381	10	0.45353	T	0.12	.	4.1735	0.10341	0.1789:0.6037:0.0:0.2174	.	1882	Q8NFU7	TET1_HUMAN	M	1882	ENSP00000362748:T1882M	ENSP00000362748:T1882M	T	+	2	0	TET1	70120811	0.002000	0.14202	0.278000	0.24718	0.010000	0.07245	1.469000	0.35343	0.684000	0.31448	0.655000	0.94253	ACG	TET1	-	NULL	ENSG00000138336		0.577	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	-	0.00	34	0	C	NM_030625		70450805	+1	tier1	-	no_errors	ENST00000373644	ensembl	human	known	74_37	missense	50.00	13	13	SNP	0.012	T
TET1	80312	genome.wustl.edu	37	10	70450805	70450805	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:70450805C>T	ENST00000373644.4	+	12	5854	c.5645C>T	c.(5644-5646)aCg>aTg	p.T1882M		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1882					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCCACTGTACGATGCCTTCG	0.577																																																	0													76.0	68.0	70.0					10																	70450805		2203	4300	6503	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5645C>T	10.37:g.70450805C>T	ENSP00000362748:p.Thr1882Met		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.T1882M	ENST00000373644.4	37	c.5645	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567028	0.28003	.	.	ENSG00000138336	ENST00000373644	T	0.08008	3.14	5.55	3.66	0.41972	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.865726	0.09616	N	0.778291	T	0.18383	0.0441	L	0.61218	1.895	0.09310	N	1	D	0.64830	0.994	P	0.58577	0.841	T	0.17077	-1.0381	10	0.45353	T	0.12	.	4.1735	0.10341	0.1789:0.6037:0.0:0.2174	.	1882	Q8NFU7	TET1_HUMAN	M	1882	ENSP00000362748:T1882M	ENSP00000362748:T1882M	T	+	2	0	TET1	70120811	0.002000	0.14202	0.278000	0.24718	0.010000	0.07245	1.469000	0.35343	0.684000	0.31448	0.655000	0.94253	ACG	TET1	-	NULL	ENSG00000138336		0.577	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	-	0.00	37	0	C	NM_030625		70450805	+1	tier1	-	no_errors	ENST00000373644	ensembl	human	known	74_37	missense	50.00	13	13	SNP	0.012	T
TEX11	56159	genome.wustl.edu	37	X	69902540	69902540	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:69902540A>C	ENST00000395889.2	-	15	1340	c.1185T>G	c.(1183-1185)atT>atG	p.I395M	TEX11_ENST00000374320.2_Missense_Mutation_p.I70M|TEX11_ENST00000344304.3_Missense_Mutation_p.I395M|TEX11_ENST00000374333.2_Missense_Mutation_p.I380M	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	395					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGATTTCTTCAATCTTCTCCT	0.328																																																	0													75.0	63.0	67.0					X																	69902540		2203	4300	6503	SO:0001583	missense	0			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1185T>G	X.37:g.69902540A>C	ENSP00000379226:p.Ile395Met		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.I395M	ENST00000395889.2	37	c.1185	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	A	16.22	3.062321	0.55432	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.51817	1.26;1.27;0.69;1.27	4.56	4.56	0.56223	.	0.225940	0.37012	N	0.002287	T	0.58409	0.2120	L	0.59436	1.845	0.29165	N	0.877522	D;D	0.59767	0.982;0.986	P;D	0.63283	0.859;0.913	T	0.56208	-0.8017	9	.	.	.	-5.8782	9.1626	0.37032	1.0:0.0:0.0:0.0	.	380;395	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	M	380;395;70;395	ENSP00000363453:I380M;ENSP00000379226:I395M;ENSP00000363440:I70M;ENSP00000340995:I395M	.	I	-	3	3	TEX11	69819265	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.006000	0.40874	1.681000	0.50988	0.339000	0.21740	ATT	TEX11	-	pfam_Meiosis_specific_SPO22	ENSG00000120498		0.328	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	-	0.00	62	0	A			69902540	-1	tier1	-	no_errors	ENST00000344304	ensembl	human	known	74_37	missense	13.21	91	14	SNP	1.000	C
TEX15	56154	genome.wustl.edu	37	8	30702827	30702827	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:30702827G>T	ENST00000256246.2	-	1	3781	c.3707C>A	c.(3706-3708)tCt>tAt	p.S1236Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1236					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCAACTTAAAGATACAGAATT	0.318																																																	0													54.0	53.0	54.0					8																	30702827		2203	4298	6501	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3707C>A	8.37:g.30702827G>T	ENSP00000256246:p.Ser1236Tyr			Missense_Mutation	SNP	NULL	p.S1236Y	ENST00000256246.2	37	c.3707	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.340043	0.00224	.	.	ENSG00000133863	ENST00000256246	T	0.23950	1.88	5.56	1.16	0.20824	.	0.431110	0.22426	N	0.060201	T	0.17323	0.0416	L	0.45581	1.43	0.09310	N	1	P	0.40332	0.713	B	0.36845	0.234	T	0.16424	-1.0403	10	0.87932	D	0	.	3.218	0.06705	0.3251:0.0:0.4928:0.1821	.	1236	Q9BXT5	TEX15_HUMAN	Y	1236	ENSP00000256246:S1236Y	ENSP00000256246:S1236Y	S	-	2	0	TEX15	30822369	0.053000	0.20554	0.017000	0.16124	0.018000	0.09664	0.973000	0.29422	0.385000	0.24970	-0.140000	0.14226	TCT	TEX15	-	NULL	ENSG00000133863		0.318	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1		0.00	32	0	G			30702827	-1			no_errors	ENST00000256246	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.023	T
TF	7018	genome.wustl.edu	37	3	133485146	133485146	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:133485146A>C	ENST00000402696.3	+	12	1840	c.1355A>C	c.(1354-1356)aAg>aCg	p.K452T	TF_ENST00000264998.3_Missense_Mutation_p.K325T	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	452	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GCAGTGGTGAAGAAATCAGCT	0.498																																																	0													215.0	210.0	211.0					3																	133485146		2203	4300	6503	SO:0001583	missense	0				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1355A>C	3.37:g.133485146A>C	ENSP00000385834:p.Lys452Thr		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.K452T	ENST00000402696.3	37	c.1355	CCDS3080.1	3	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877554	0.51801	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.42900	0.96;0.96	4.76	4.76	0.60689	.	0.093045	0.64402	D	0.000001	T	0.75715	0.3887	H	0.97540	4.025	0.54753	D	0.999988	D	0.69078	0.997	D	0.76575	0.988	D	0.84661	0.0706	10	0.87932	D	0	-41.0345	13.8157	0.63290	1.0:0.0:0.0:0.0	.	452	P02787	TRFE_HUMAN	T	452;325	ENSP00000385834:K452T;ENSP00000264998:K325T	ENSP00000264998:K325T	K	+	2	0	TF	134967836	1.000000	0.71417	0.584000	0.28653	0.121000	0.20230	4.295000	0.59049	2.162000	0.67917	0.357000	0.21978	AAG	TF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000091513		0.498	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1	-	0.00	44	0	A	NM_001063		133485146	+1	tier1	-	no_errors	ENST00000402696	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.996	C
TF	7018	genome.wustl.edu	37	3	133485146	133485146	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:133485146A>C	ENST00000402696.3	+	12	1840	c.1355A>C	c.(1354-1356)aAg>aCg	p.K452T	TF_ENST00000264998.3_Missense_Mutation_p.K325T	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	452	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GCAGTGGTGAAGAAATCAGCT	0.498																																																	0													215.0	210.0	211.0					3																	133485146		2203	4300	6503	SO:0001583	missense	0				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1355A>C	3.37:g.133485146A>C	ENSP00000385834:p.Lys452Thr		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.K452T	ENST00000402696.3	37	c.1355	CCDS3080.1	3	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877554	0.51801	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.42900	0.96;0.96	4.76	4.76	0.60689	.	0.093045	0.64402	D	0.000001	T	0.75715	0.3887	H	0.97540	4.025	0.54753	D	0.999988	D	0.69078	0.997	D	0.76575	0.988	D	0.84661	0.0706	10	0.87932	D	0	-41.0345	13.8157	0.63290	1.0:0.0:0.0:0.0	.	452	P02787	TRFE_HUMAN	T	452;325	ENSP00000385834:K452T;ENSP00000264998:K325T	ENSP00000264998:K325T	K	+	2	0	TF	134967836	1.000000	0.71417	0.584000	0.28653	0.121000	0.20230	4.295000	0.59049	2.162000	0.67917	0.357000	0.21978	AAG	TF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000091513		0.498	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1	-	0.00	69	0	A	NM_001063		133485146	+1	tier1	-	no_errors	ENST00000402696	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.996	C
TFIP11	24144	genome.wustl.edu	37	22	26890888	26890888	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:26890888G>T	ENST00000407690.1	-	13	2150	c.1867C>A	c.(1867-1869)Cta>Ata	p.L623I	TFIP11_ENST00000407431.1_Missense_Mutation_p.L623I|TFIP11_ENST00000407148.1_Missense_Mutation_p.L623I|TFIP11_ENST00000405938.1_Missense_Mutation_p.L623I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	623					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TTAATGACTAGCTCACCAAGA	0.483																																																	0													89.0	76.0	81.0					22																	26890888		2203	4300	6503	SO:0001583	missense	0			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1867C>A	22.37:g.26890888G>T	ENSP00000384421:p.Leu623Ile		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.L623I	ENST00000407690.1	37	c.1867	CCDS13838.1	22	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695839	0.48202	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.44	-5.28	0.02755	GC-rich sequence DNA-binding factor domain (1);	0.133094	0.51477	D	0.000093	T	0.54791	0.1880	M	0.79011	2.435	0.42082	D	0.991251	P	0.40000	0.698	P	0.45753	0.492	T	0.63829	-0.6548	10	0.52906	T	0.07	-28.3092	13.7243	0.62748	0.6356:0.0:0.3644:0.0	.	623	Q9UBB9	TFP11_HUMAN	I	623;623;623;308;623	ENSP00000384421:L623I;ENSP00000383892:L623I;ENSP00000385861:L623I;ENSP00000384297:L623I	ENSP00000384297:L623I	L	-	1	2	TFIP11	25220888	0.730000	0.28100	0.157000	0.22605	0.959000	0.62525	0.806000	0.27126	-0.640000	0.05495	-0.142000	0.14014	CTA	TFIP11	-	pfam_GCFC_dom	ENSG00000100109		0.483	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1	-	0.00	79	0	G	NM_001008697		26890888	-1	tier1	-	no_errors	ENST00000405938	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.319	T
TGFB2	7042	genome.wustl.edu	37	1	218614815	218614815	+	3'UTR	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:218614815G>C	ENST00000366930.4	+	0	1823				TGFB2_ENST00000366929.4_3'UTR|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2						activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TGGTTCATCAGTGTTAAAAAA	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.*111G>C	1.37:g.218614815G>C			B4DKC5|P08112|Q15579|Q15581|Q4VAV9	RNA	SNP	-	NULL	ENST00000366930.4	37	NULL	CCDS1521.1	1																																																																																			TGFB2	-	-	ENSG00000092969		0.368	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB2	HGNC	protein_coding	OTTHUMT00000095359.2	-	0.00	49	0	G	NM_003238		218614815	+1	tier1	-	no_errors	ENST00000479322	ensembl	human	known	74_37	rna	8.89	82	8	SNP	1.000	C
TGFB2	7042	genome.wustl.edu	37	1	218614815	218614815	+	3'UTR	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:218614815G>C	ENST00000366930.4	+	0	1823				TGFB2_ENST00000366929.4_3'UTR|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2						activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TGGTTCATCAGTGTTAAAAAA	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.*111G>C	1.37:g.218614815G>C			B4DKC5|P08112|Q15579|Q15581|Q4VAV9	RNA	SNP	-	NULL	ENST00000366930.4	37	NULL	CCDS1521.1	1																																																																																			TGFB2	-	-	ENSG00000092969		0.368	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB2	HGNC	protein_coding	OTTHUMT00000095359.2	-	0.00	84	0	G	NM_003238		218614815	+1	tier1	-	no_errors	ENST00000479322	ensembl	human	known	74_37	rna	8.89	82	8	SNP	1.000	C
THOC2	57187	genome.wustl.edu	37	X	122734687	122734687	+	3'UTR	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:122734687A>G	ENST00000245838.8	-	0	5334				THOC2_ENST00000497887.1_5'Flank	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTGTACATGTACTATATAAAA	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.*521T>C	X.37:g.122734687A>G			A6NM50|Q5JZ12|Q6IN92|Q9H8I6	RNA	SNP	-	NULL	ENST00000245838.8	37	NULL	CCDS43988.1	X																																																																																			THOC2	-	-	ENSG00000125676		0.308	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	-	0.00	37	0	A			122734687	-1	tier1	-	no_errors	ENST00000492203	ensembl	human	known	74_37	rna	19.74	61	15	SNP	0.252	G
THOC2	57187	genome.wustl.edu	37	X	122734687	122734687	+	3'UTR	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:122734687A>G	ENST00000245838.8	-	0	5334				THOC2_ENST00000497887.1_5'Flank	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTGTACATGTACTATATAAAA	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.*521T>C	X.37:g.122734687A>G			A6NM50|Q5JZ12|Q6IN92|Q9H8I6	RNA	SNP	-	NULL	ENST00000245838.8	37	NULL	CCDS43988.1	X																																																																																			THOC2	-	-	ENSG00000125676		0.308	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	-	0.00	59	0	A			122734687	-1	tier1	-	no_errors	ENST00000492203	ensembl	human	known	74_37	rna	19.74	61	15	SNP	0.252	G
THSD4	79875	genome.wustl.edu	37	15	72040778	72040778	+	Missense_Mutation	SNP	G	G	A	rs374123828		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:72040778G>A	ENST00000355327.3	+	14	2394	c.2260G>A	c.(2260-2262)Gtg>Atg	p.V754M	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.V754M|THSD4_ENST00000357769.4_Missense_Mutation_p.V394M			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	754	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCCTGCGGCGTGGGACAGAG	0.557																																																	0								G	MET/VAL	0,4352		0,0,2176	129.0	144.0	139.0		2260	4.7	1.0	15		139	1,8535		0,1,4267	no	missense	THSD4	NM_024817.2	21	0,1,6443	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	754/1019	72040778	1,12887	2176	4268	6444	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2260G>A	15.37:g.72040778G>A	ENSP00000347484:p.Val754Met		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.V754M	ENST00000355327.3	37	c.2260	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106473	0.37145	0.0	1.17E-4	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.51574	0.7;0.7;0.7	4.68	4.68	0.58851	.	.	.	.	.	T	0.61413	0.2345	L	0.47190	1.495	0.41672	D	0.989249	D;D	0.89917	1.0;1.0	D;D	0.75484	0.978;0.986	T	0.62139	-0.6917	9	0.46703	T	0.11	.	15.4257	0.75048	0.0:0.0:1.0:0.0	.	394;754	B4DR13;Q6ZMP0	.;THSD4_HUMAN	M	754;754;394	ENSP00000347484:V754M;ENSP00000261862:V754M;ENSP00000350413:V394M	ENSP00000261862:V754M	V	+	1	0	THSD4	69827832	1.000000	0.71417	0.977000	0.42913	0.588000	0.36517	3.327000	0.52045	2.313000	0.78055	0.563000	0.77884	GTG	THSD4	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000187720		0.557	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	-	0.00	108	0	G	NM_024817		72040778	+1	tier1	-	no_errors	ENST00000261862	ensembl	human	known	74_37	missense	9.52	76	8	SNP	0.824	A
THSD4	79875	genome.wustl.edu	37	15	72040778	72040778	+	Missense_Mutation	SNP	G	G	A	rs374123828		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:72040778G>A	ENST00000355327.3	+	14	2394	c.2260G>A	c.(2260-2262)Gtg>Atg	p.V754M	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.V754M|THSD4_ENST00000357769.4_Missense_Mutation_p.V394M			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	754	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCCTGCGGCGTGGGACAGAG	0.557																																																	0								G	MET/VAL	0,4352		0,0,2176	129.0	144.0	139.0		2260	4.7	1.0	15		139	1,8535		0,1,4267	no	missense	THSD4	NM_024817.2	21	0,1,6443	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	754/1019	72040778	1,12887	2176	4268	6444	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2260G>A	15.37:g.72040778G>A	ENSP00000347484:p.Val754Met		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.V754M	ENST00000355327.3	37	c.2260	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106473	0.37145	0.0	1.17E-4	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.51574	0.7;0.7;0.7	4.68	4.68	0.58851	.	.	.	.	.	T	0.61413	0.2345	L	0.47190	1.495	0.41672	D	0.989249	D;D	0.89917	1.0;1.0	D;D	0.75484	0.978;0.986	T	0.62139	-0.6917	9	0.46703	T	0.11	.	15.4257	0.75048	0.0:0.0:1.0:0.0	.	394;754	B4DR13;Q6ZMP0	.;THSD4_HUMAN	M	754;754;394	ENSP00000347484:V754M;ENSP00000261862:V754M;ENSP00000350413:V394M	ENSP00000261862:V754M	V	+	1	0	THSD4	69827832	1.000000	0.71417	0.977000	0.42913	0.588000	0.36517	3.327000	0.52045	2.313000	0.78055	0.563000	0.77884	GTG	THSD4	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000187720		0.557	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	-	0.00	137	0	G	NM_024817		72040778	+1	tier1	-	no_errors	ENST00000261862	ensembl	human	known	74_37	missense	9.52	76	8	SNP	0.824	A
TIAM1	7074	genome.wustl.edu	37	21	32503209	32503209	+	Splice_Site	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:32503209A>C	ENST00000286827.3	-	25	4412	c.3941T>G	c.(3940-3942)cTt>cGt	p.L1314R	TIAM1_ENST00000541036.1_Splice_Site_p.L1254R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1314	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATGTCTTACAAGTTTCTTCTT	0.343																																																	0													150.0	136.0	140.0					21																	32503209		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3942+1T>G	21.37:g.32503209A>C			B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.L1314R	ENST00000286827.3	37	c.3941	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421478	0.83559	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.51574	0.7;0.7	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.063133	0.64402	D	0.000005	T	0.51363	0.1670	L	0.48642	1.525	0.80722	D	1	D;P;P	0.52996	0.957;0.928;0.928	P;B;B	0.48227	0.571;0.367;0.367	T	0.55503	-0.8131	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1254;1254;1314	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	R	1314;1254	ENSP00000286827:L1314R;ENSP00000441570:L1254R	ENSP00000286827:L1314R	L	-	2	0	TIAM1	31425080	1.000000	0.71417	0.987000	0.45799	0.937000	0.57800	8.129000	0.89597	2.254000	0.74563	0.533000	0.62120	CTT	TIAM1	-	smart_Pleckstrin_homology	ENSG00000156299		0.343	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0.00	48	0	A	NM_003253	Missense_Mutation	32503209	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	missense	43.28	38	29	SNP	1.000	C
TIAM1	7074	genome.wustl.edu	37	21	32503209	32503209	+	Splice_Site	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:32503209A>C	ENST00000286827.3	-	25	4412	c.3941T>G	c.(3940-3942)cTt>cGt	p.L1314R	TIAM1_ENST00000541036.1_Splice_Site_p.L1254R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1314	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATGTCTTACAAGTTTCTTCTT	0.343																																																	0													150.0	136.0	140.0					21																	32503209		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3942+1T>G	21.37:g.32503209A>C			B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.L1314R	ENST00000286827.3	37	c.3941	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421478	0.83559	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.51574	0.7;0.7	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.063133	0.64402	D	0.000005	T	0.51363	0.1670	L	0.48642	1.525	0.80722	D	1	D;P;P	0.52996	0.957;0.928;0.928	P;B;B	0.48227	0.571;0.367;0.367	T	0.55503	-0.8131	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1254;1254;1314	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	R	1314;1254	ENSP00000286827:L1314R;ENSP00000441570:L1254R	ENSP00000286827:L1314R	L	-	2	0	TIAM1	31425080	1.000000	0.71417	0.987000	0.45799	0.937000	0.57800	8.129000	0.89597	2.254000	0.74563	0.533000	0.62120	CTT	TIAM1	-	smart_Pleckstrin_homology	ENSG00000156299		0.343	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0.00	80	0	A	NM_003253	Missense_Mutation	32503209	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	missense	43.28	38	29	SNP	1.000	C
TIGD3	220359	genome.wustl.edu	37	11	65123463	65123463	+	Missense_Mutation	SNP	G	G	A	rs142471374		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:65123463G>A	ENST00000309880.5	+	2	391	c.184G>A	c.(184-186)Ggc>Agc	p.G62S		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	62						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTGGTGCAGCGGCACAGCCAA	0.642																																																	0								G	SER/GLY	0,4402		0,0,2201	65.0	76.0	72.0		184	4.9	1.0	11	dbSNP_134	72	2,8592	2.2+/-6.3	0,2,4295	no	missense	TIGD3	NM_145719.2	56	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	62/472	65123463	2,12994	2201	4297	6498	SO:0001583	missense	0				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.184G>A	11.37:g.65123463G>A	ENSP00000308354:p.Gly62Ser			Missense_Mutation	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.G62S	ENST00000309880.5	37	c.184	CCDS8101.1	11	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430261	0.62844	0.0	2.33E-4	ENSG00000173825	ENST00000309880	T	0.42131	0.98	4.94	4.94	0.65067	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.32935	N	0.005471	T	0.42494	0.1205	N	0.14661	0.345	0.35487	D	0.798686	D	0.89917	1.0	D	0.85130	0.997	T	0.30238	-0.9985	10	0.07644	T	0.81	-19.8272	14.0797	0.64912	0.0:0.0:1.0:0.0	.	62	Q6B0B8	TIGD3_HUMAN	S	62	ENSP00000308354:G62S	ENSP00000308354:G62S	G	+	1	0	TIGD3	64880039	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.315000	0.51951	2.471000	0.83476	0.456000	0.33151	GGC	TIGD3	-	superfamily_Homeodomain-like	ENSG00000173825		0.642	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1	-	0.00	72	0	G	NM_145719		65123463	+1	tier1	rs142471374	no_errors	ENST00000309880	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A
TIGD3	220359	genome.wustl.edu	37	11	65123463	65123463	+	Missense_Mutation	SNP	G	G	A	rs142471374		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:65123463G>A	ENST00000309880.5	+	2	391	c.184G>A	c.(184-186)Ggc>Agc	p.G62S		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	62						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTGGTGCAGCGGCACAGCCAA	0.642																																																	0								G	SER/GLY	0,4402		0,0,2201	65.0	76.0	72.0		184	4.9	1.0	11	dbSNP_134	72	2,8592	2.2+/-6.3	0,2,4295	no	missense	TIGD3	NM_145719.2	56	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	62/472	65123463	2,12994	2201	4297	6498	SO:0001583	missense	0				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.184G>A	11.37:g.65123463G>A	ENSP00000308354:p.Gly62Ser			Missense_Mutation	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.G62S	ENST00000309880.5	37	c.184	CCDS8101.1	11	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430261	0.62844	0.0	2.33E-4	ENSG00000173825	ENST00000309880	T	0.42131	0.98	4.94	4.94	0.65067	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.32935	N	0.005471	T	0.42494	0.1205	N	0.14661	0.345	0.35487	D	0.798686	D	0.89917	1.0	D	0.85130	0.997	T	0.30238	-0.9985	10	0.07644	T	0.81	-19.8272	14.0797	0.64912	0.0:0.0:1.0:0.0	.	62	Q6B0B8	TIGD3_HUMAN	S	62	ENSP00000308354:G62S	ENSP00000308354:G62S	G	+	1	0	TIGD3	64880039	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.315000	0.51951	2.471000	0.83476	0.456000	0.33151	GGC	TIGD3	-	superfamily_Homeodomain-like	ENSG00000173825		0.642	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1	-	0.00	76	0	G	NM_145719		65123463	+1	tier1	rs142471374	no_errors	ENST00000309880	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A
TJP1	7082	genome.wustl.edu	37	15	30065440	30065440	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:30065440G>C	ENST00000346128.6	-	3	679	c.205C>G	c.(205-207)Cta>Gta	p.L69V	TJP1_ENST00000356107.6_Missense_Mutation_p.L69V|TJP1_ENST00000400011.2_Missense_Mutation_p.L73V|TJP1_ENST00000545208.2_Missense_Mutation_p.L69V|TJP1_ENST00000495972.2_Missense_Mutation_p.L69V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	69	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTTACTGTAGCTGTCCTTCA	0.463																																					Melanoma(77;681 1843 6309 6570)												0													156.0	152.0	153.0					15																	30065440		2092	4218	6310	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.205C>G	15.37:g.30065440G>C	ENSP00000281537:p.Leu69Val		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.L69V	ENST00000346128.6	37	c.205	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587242	0.46110	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.65	2.63	0.31362	PDZ/DHR/GLGF (4);	0.176313	0.38605	N	0.001630	T	0.66809	0.2827	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;P;D;D	0.83275	0.958;0.904;0.958;0.996	T	0.66520	-0.5903	9	.	.	.	.	11.1428	0.48413	0.1858:0.0:0.8142:0.0	.	62;69;69;73	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	V	69;73;69;69;69	ENSP00000281537:L69V;ENSP00000382890:L73V;ENSP00000441202:L69V;ENSP00000348416:L69V	.	L	-	1	2	TJP1	27852732	1.000000	0.71417	0.950000	0.38849	0.070000	0.16714	3.406000	0.52637	0.373000	0.24621	0.585000	0.79938	CTA	TJP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000104067		0.463	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	-	0.00	66	0	G	NM_003257		30065440	-1	tier1	-	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	C
TJP1	7082	genome.wustl.edu	37	15	30065440	30065440	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:30065440G>C	ENST00000346128.6	-	3	679	c.205C>G	c.(205-207)Cta>Gta	p.L69V	TJP1_ENST00000356107.6_Missense_Mutation_p.L69V|TJP1_ENST00000400011.2_Missense_Mutation_p.L73V|TJP1_ENST00000545208.2_Missense_Mutation_p.L69V|TJP1_ENST00000495972.2_Missense_Mutation_p.L69V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	69	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTTACTGTAGCTGTCCTTCA	0.463																																					Melanoma(77;681 1843 6309 6570)												0													156.0	152.0	153.0					15																	30065440		2092	4218	6310	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.205C>G	15.37:g.30065440G>C	ENSP00000281537:p.Leu69Val		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.L69V	ENST00000346128.6	37	c.205	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587242	0.46110	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.65	2.63	0.31362	PDZ/DHR/GLGF (4);	0.176313	0.38605	N	0.001630	T	0.66809	0.2827	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;P;D;D	0.83275	0.958;0.904;0.958;0.996	T	0.66520	-0.5903	9	.	.	.	.	11.1428	0.48413	0.1858:0.0:0.8142:0.0	.	62;69;69;73	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	V	69;73;69;69;69	ENSP00000281537:L69V;ENSP00000382890:L73V;ENSP00000441202:L69V;ENSP00000348416:L69V	.	L	-	1	2	TJP1	27852732	1.000000	0.71417	0.950000	0.38849	0.070000	0.16714	3.406000	0.52637	0.373000	0.24621	0.585000	0.79938	CTA	TJP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000104067		0.463	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	-	0.00	75	0	G	NM_003257		30065440	-1	tier1	-	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	C
TMEM200A	114801	genome.wustl.edu	37	6	130761774	130761774	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:130761774G>T	ENST00000296978.3	+	3	1078	c.207G>T	c.(205-207)gtG>gtT	p.V69V	TMEM200A_ENST00000545622.1_Silent_p.V69V|TMEM200A_ENST00000392429.1_Silent_p.V69V	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	69						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTTAGGAGTGCTCATCTCCA	0.443																																																	0													100.0	104.0	103.0					6																	130761774		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.207G>T	6.37:g.130761774G>T			Q96PX5	Silent	SNP	pfam_DUF2371_TMEM200	p.V69	ENST00000296978.3	37	c.207	CCDS5140.1	6																																																																																			TMEM200A	-	pfam_DUF2371_TMEM200	ENSG00000164484		0.443	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	HGNC	protein_coding	OTTHUMT00000042201.1	-	0.00	71	0	G	NM_052913		130761774	+1	tier1	-	no_errors	ENST00000296978	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.880	T
TMEM200A	114801	genome.wustl.edu	37	6	130761774	130761774	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:130761774G>T	ENST00000296978.3	+	3	1078	c.207G>T	c.(205-207)gtG>gtT	p.V69V	TMEM200A_ENST00000545622.1_Silent_p.V69V|TMEM200A_ENST00000392429.1_Silent_p.V69V	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	69						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTTAGGAGTGCTCATCTCCA	0.443																																																	0													100.0	104.0	103.0					6																	130761774		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.207G>T	6.37:g.130761774G>T			Q96PX5	Silent	SNP	pfam_DUF2371_TMEM200	p.V69	ENST00000296978.3	37	c.207	CCDS5140.1	6																																																																																			TMEM200A	-	pfam_DUF2371_TMEM200	ENSG00000164484		0.443	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	HGNC	protein_coding	OTTHUMT00000042201.1	-	0.00	74	0	G	NM_052913		130761774	+1	tier1	-	no_errors	ENST00000296978	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.880	T
TMEM86B	255043	genome.wustl.edu	37	19	55738621	55738621	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:55738621C>G	ENST00000327042.4	-	3	1131	c.609G>C	c.(607-609)atG>atC	p.M203I	AC010327.2_ENST00000598855.1_5'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	203					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		AGTAGGTGGTCATGATCACCA	0.647																																																	0													35.0	25.0	28.0					19																	55738621		2195	4298	6493	SO:0001583	missense	0			BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.609G>C	19.37:g.55738621C>G	ENSP00000321038:p.Met203Ile			Missense_Mutation	SNP	pfam_YhhN	p.M203I	ENST00000327042.4	37	c.609	CCDS12920.1	19	.	.	.	.	.	.	.	.	.	.	.	16.40	3.111528	0.56398	.	.	ENSG00000180089	ENST00000327042	T	0.25912	1.77	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56631	-0.7947	10	0.59425	D	0.04	.	16.3135	0.82905	0.0:1.0:0.0:0.0	.	203	Q8N661	TM86B_HUMAN	I	203	ENSP00000321038:M203I	ENSP00000321038:M203I	M	-	3	0	TMEM86B	60430433	0.998000	0.40836	0.947000	0.38551	0.045000	0.14185	4.306000	0.59117	2.232000	0.73038	0.561000	0.74099	ATG	TMEM86B	-	pfam_YhhN	ENSG00000180089		0.647	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM86B	HGNC	protein_coding	OTTHUMT00000452659.1	-	0.00	85	0	C	NM_173804		55738621	-1	tier1	-	no_errors	ENST00000327042	ensembl	human	known	74_37	missense	56.06	29	37	SNP	1.000	G
TMEM86B	255043	genome.wustl.edu	37	19	55738621	55738621	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:55738621C>G	ENST00000327042.4	-	3	1131	c.609G>C	c.(607-609)atG>atC	p.M203I	AC010327.2_ENST00000598855.1_5'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	203					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		AGTAGGTGGTCATGATCACCA	0.647																																																	0													35.0	25.0	28.0					19																	55738621		2195	4298	6493	SO:0001583	missense	0			BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.609G>C	19.37:g.55738621C>G	ENSP00000321038:p.Met203Ile			Missense_Mutation	SNP	pfam_YhhN	p.M203I	ENST00000327042.4	37	c.609	CCDS12920.1	19	.	.	.	.	.	.	.	.	.	.	.	16.40	3.111528	0.56398	.	.	ENSG00000180089	ENST00000327042	T	0.25912	1.77	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56631	-0.7947	10	0.59425	D	0.04	.	16.3135	0.82905	0.0:1.0:0.0:0.0	.	203	Q8N661	TM86B_HUMAN	I	203	ENSP00000321038:M203I	ENSP00000321038:M203I	M	-	3	0	TMEM86B	60430433	0.998000	0.40836	0.947000	0.38551	0.045000	0.14185	4.306000	0.59117	2.232000	0.73038	0.561000	0.74099	ATG	TMEM86B	-	pfam_YhhN	ENSG00000180089		0.647	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM86B	HGNC	protein_coding	OTTHUMT00000452659.1	-	0.00	86	0	C	NM_173804		55738621	-1	tier1	-	no_errors	ENST00000327042	ensembl	human	known	74_37	missense	56.06	29	37	SNP	1.000	G
TMLHE	55217	genome.wustl.edu	37	X	154736754	154736754	+	Missense_Mutation	SNP	C	C	A	rs181549466		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:154736754C>A	ENST00000334398.3	-	6	945	c.800G>T	c.(799-801)gGc>gTc	p.G267V	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.G267V	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	267					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGTGTCCTGCCACCAGTTCC	0.388																																																	0													119.0	115.0	116.0					X																	154736754		2203	4300	6503	SO:0001583	missense	0			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.800G>T	X.37:g.154736754C>A	ENSP00000335261:p.Gly267Val		A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase	p.G267V	ENST00000334398.3	37	c.800	CCDS14768.1	X	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776758	0.70107	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.96885	-4.16;-4.16	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99457	1.0942	10	0.87932	D	0	-9.2168	13.4513	0.61172	0.0:1.0:0.0:0.0	.	267;267;267	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	V	267	ENSP00000335261:G267V;ENSP00000358447:G267V	ENSP00000335261:G267V	G	-	2	0	TMLHE	154389948	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.706000	0.74649	1.822000	0.53115	0.494000	0.49563	GGC	TMLHE	-	pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase	ENSG00000185973		0.388	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMLHE	HGNC	protein_coding	OTTHUMT00000058817.1	-	0.00	38	0	C	NM_018196		154736754	-1	tier1	-	no_errors	ENST00000334398	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A
TMLHE	55217	genome.wustl.edu	37	X	154736754	154736754	+	Missense_Mutation	SNP	C	C	A	rs181549466		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:154736754C>A	ENST00000334398.3	-	6	945	c.800G>T	c.(799-801)gGc>gTc	p.G267V	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.G267V	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	267					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGTGTCCTGCCACCAGTTCC	0.388																																																	0													119.0	115.0	116.0					X																	154736754		2203	4300	6503	SO:0001583	missense	0			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.800G>T	X.37:g.154736754C>A	ENSP00000335261:p.Gly267Val		A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase	p.G267V	ENST00000334398.3	37	c.800	CCDS14768.1	X	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776758	0.70107	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.96885	-4.16;-4.16	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99457	1.0942	10	0.87932	D	0	-9.2168	13.4513	0.61172	0.0:1.0:0.0:0.0	.	267;267;267	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	V	267	ENSP00000335261:G267V;ENSP00000358447:G267V	ENSP00000335261:G267V	G	-	2	0	TMLHE	154389948	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.706000	0.74649	1.822000	0.53115	0.494000	0.49563	GGC	TMLHE	-	pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase	ENSG00000185973		0.388	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMLHE	HGNC	protein_coding	OTTHUMT00000058817.1	-	0.00	44	0	C	NM_018196		154736754	-1	tier1	-	no_errors	ENST00000334398	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A
TNFAIP1	7126	genome.wustl.edu	37	17	26667392	26667392	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:26667392G>C	ENST00000226225.2	+	3	530	c.263G>C	c.(262-264)cGa>cCa	p.R88P	TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_5'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AATTACCTCCGAGATGACACC	0.512																																																	0													167.0	150.0	156.0					17																	26667392		2203	4300	6503	SO:0001583	missense	0				CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.263G>C	17.37:g.26667392G>C	ENSP00000226225:p.Arg88Pro		B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R88P	ENST00000226225.2	37	c.263	CCDS11227.1	17	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412458	0.42817	.	.	ENSG00000109079	ENST00000226225	T	0.80653	-1.4	6.17	3.1	0.35709	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.069834	0.64402	D	0.000013	D	0.92528	0.7627	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91252	0.5030	10	0.87932	D	0	-5.6837	8.3331	0.32197	0.1312:0.0:0.7415:0.1273	.	88	Q13829	BACD2_HUMAN	P	88	ENSP00000226225:R88P	ENSP00000226225:R88P	R	+	2	0	TNFAIP1	23691519	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	9.869000	0.99810	0.470000	0.27294	0.655000	0.94253	CGA	TNFAIP1	-	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000109079		0.512	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP1	HGNC	protein_coding	OTTHUMT00000255681.2	-	0.00	68	0	G	NM_021137		26667392	+1	tier1	-	no_errors	ENST00000226225	ensembl	human	known	74_37	missense	19.51	66	16	SNP	1.000	C
TNFAIP1	7126	genome.wustl.edu	37	17	26667392	26667392	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:26667392G>C	ENST00000226225.2	+	3	530	c.263G>C	c.(262-264)cGa>cCa	p.R88P	TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_5'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AATTACCTCCGAGATGACACC	0.512																																																	0													167.0	150.0	156.0					17																	26667392		2203	4300	6503	SO:0001583	missense	0				CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.263G>C	17.37:g.26667392G>C	ENSP00000226225:p.Arg88Pro		B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R88P	ENST00000226225.2	37	c.263	CCDS11227.1	17	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412458	0.42817	.	.	ENSG00000109079	ENST00000226225	T	0.80653	-1.4	6.17	3.1	0.35709	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.069834	0.64402	D	0.000013	D	0.92528	0.7627	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91252	0.5030	10	0.87932	D	0	-5.6837	8.3331	0.32197	0.1312:0.0:0.7415:0.1273	.	88	Q13829	BACD2_HUMAN	P	88	ENSP00000226225:R88P	ENSP00000226225:R88P	R	+	2	0	TNFAIP1	23691519	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	9.869000	0.99810	0.470000	0.27294	0.655000	0.94253	CGA	TNFAIP1	-	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000109079		0.512	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP1	HGNC	protein_coding	OTTHUMT00000255681.2	-	0.00	89	0	G	NM_021137		26667392	+1	tier1	-	no_errors	ENST00000226225	ensembl	human	known	74_37	missense	19.51	66	16	SNP	1.000	C
TNK2	10188	genome.wustl.edu	37	3	195594074	195594074	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:195594074C>A	ENST00000333602.6	-	13	3565	c.2948G>T	c.(2947-2949)gGc>gTc	p.G983V	TNK2_ENST00000428187.1_Intron|TNK2_ENST00000392400.1_Missense_Mutation_p.G983V|TNK2_ENST00000381916.2_Intron	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	983	UBA.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CACGCTCCAGCCGTGGCACTG	0.672																																																	0													40.0	45.0	43.0					3																	195594074		2203	4300	6503	SO:0001583	missense	0			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2948G>T	3.37:g.195594074C>A	ENSP00000329425:p.Gly983Val		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G983V	ENST00000333602.6	37	c.2948	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916869	0.33815	.	.	ENSG00000061938	ENST00000333602;ENST00000416152;ENST00000392400	T;T;T	0.74737	-0.87;1.76;-0.87	5.67	3.83	0.44106	.	.	.	.	.	T	0.69305	0.3096	L	0.55481	1.735	0.80722	D	1	B;B	0.27910	0.03;0.193	B;B	0.30029	0.024;0.11	T	0.70475	-0.4861	9	0.87932	D	0	.	10.4826	0.44702	0.0:0.7925:0.1333:0.0742	.	983;510	Q07912;B3KXJ4	ACK1_HUMAN;.	V	983;552;983	ENSP00000329425:G983V;ENSP00000398614:G552V;ENSP00000376201:G983V	ENSP00000329425:G983V	G	-	2	0	TNK2	197078471	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.878000	0.39608	1.352000	0.45808	0.655000	0.94253	GGC	TNK2	-	superfamily_UBA-like	ENSG00000061938		0.672	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	-	0.00	59	0	C	NM_005781		195594074	-1	tier1	-	no_errors	ENST00000333602	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.921	A
TNK2	10188	genome.wustl.edu	37	3	195594074	195594074	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:195594074C>A	ENST00000333602.6	-	13	3565	c.2948G>T	c.(2947-2949)gGc>gTc	p.G983V	TNK2_ENST00000428187.1_Intron|TNK2_ENST00000392400.1_Missense_Mutation_p.G983V|TNK2_ENST00000381916.2_Intron	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	983	UBA.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CACGCTCCAGCCGTGGCACTG	0.672																																																	0													40.0	45.0	43.0					3																	195594074		2203	4300	6503	SO:0001583	missense	0			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2948G>T	3.37:g.195594074C>A	ENSP00000329425:p.Gly983Val		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G983V	ENST00000333602.6	37	c.2948	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916869	0.33815	.	.	ENSG00000061938	ENST00000333602;ENST00000416152;ENST00000392400	T;T;T	0.74737	-0.87;1.76;-0.87	5.67	3.83	0.44106	.	.	.	.	.	T	0.69305	0.3096	L	0.55481	1.735	0.80722	D	1	B;B	0.27910	0.03;0.193	B;B	0.30029	0.024;0.11	T	0.70475	-0.4861	9	0.87932	D	0	.	10.4826	0.44702	0.0:0.7925:0.1333:0.0742	.	983;510	Q07912;B3KXJ4	ACK1_HUMAN;.	V	983;552;983	ENSP00000329425:G983V;ENSP00000398614:G552V;ENSP00000376201:G983V	ENSP00000329425:G983V	G	-	2	0	TNK2	197078471	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.878000	0.39608	1.352000	0.45808	0.655000	0.94253	GGC	TNK2	-	superfamily_UBA-like	ENSG00000061938		0.672	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	-	0.00	75	0	C	NM_005781		195594074	-1	tier1	-	no_errors	ENST00000333602	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.921	A
TP53	7157	genome.wustl.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:7577099C>T	ENST00000269305.4	-	8	1028	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R280K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCCGGTCTCTCCCAGGACA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	GRCh37	CM993218	TP53	M	rs121912660						77.0	67.0	70.0					17																	7577099		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.839G>A	17.37:g.7577099C>T	ENSP00000269305:p.Arg280Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R280K	ENST00000269305.4	37	c.839	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.663043	0.96745	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;P	0.69078	0.972;0.997;0.977;0.896	D;D;D;D	0.85130	0.942;0.997;0.941;0.921	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	280;280;280;280;280;269;148	ENSP00000352610:R280K;ENSP00000269305:R280K;ENSP00000398846:R280K;ENSP00000391127:R280K;ENSP00000391478:R280K;ENSP00000425104:R148K	ENSP00000269305:R280K	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	45	0	C	NM_000546		7577099	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	72.00	7	18	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:7577099C>T	ENST00000269305.4	-	8	1028	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R280K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCCGGTCTCTCCCAGGACA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	GRCh37	CM993218	TP53	M	rs121912660						77.0	67.0	70.0					17																	7577099		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.839G>A	17.37:g.7577099C>T	ENSP00000269305:p.Arg280Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R280K	ENST00000269305.4	37	c.839	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.663043	0.96745	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;P	0.69078	0.972;0.997;0.977;0.896	D;D;D;D	0.85130	0.942;0.997;0.941;0.921	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	280;280;280;280;280;269;148	ENSP00000352610:R280K;ENSP00000269305:R280K;ENSP00000398846:R280K;ENSP00000391127:R280K;ENSP00000391478:R280K;ENSP00000425104:R148K	ENSP00000269305:R280K	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	52	0	C	NM_000546		7577099	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	72.00	7	18	SNP	1.000	T
TRAF4	9618	genome.wustl.edu	37	17	27071173	27071173	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:27071173C>G	ENST00000262395.5	+	1	172	c.43C>G	c.(43-45)Cgg>Ggg	p.R15G	AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262396.6_Missense_Mutation_p.R15G|TRAF4_ENST00000444415.3_Missense_Mutation_p.R15G|AC010761.6_ENST00000582536.1_RNA|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	15					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCCAAGCGACGGCTGCTGTG	0.697																																																	0													19.0	23.0	21.0					17																	27071173		2200	4300	6500	SO:0001583	missense	0			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.43C>G	17.37:g.27071173C>G	ENSP00000262395:p.Arg15Gly		O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R15G	ENST00000262395.5	37	c.43	CCDS11243.1	17	.	.	.	.	.	.	.	.	.	.	c	14.78	2.637143	0.47049	.	.	ENSG00000076604	ENST00000262395;ENST00000454852;ENST00000422344;ENST00000444415;ENST00000262396;ENST00000394924;ENST00000394925	T;T;T;T	0.26373	2.12;2.32;1.76;1.74	4.08	2.05	0.26809	Zinc finger, RING/FYVE/PHD-type (1);	0.073354	0.53938	D	0.000043	T	0.17619	0.0423	L	0.28054	0.825	0.38768	D	0.954476	P;P	0.38827	0.649;0.626	B;B	0.41917	0.097;0.37	T	0.07028	-1.0794	10	0.87932	D	0	.	4.7122	0.12879	0.3846:0.5106:0.0:0.1048	.	15;15	Q9BUZ4;Q9BUZ4-2	TRAF4_HUMAN;.	G	15	ENSP00000262395:R15G;ENSP00000415789:R15G;ENSP00000438154:R15G;ENSP00000262396:R15G	ENSP00000262395:R15G	R	+	1	2	TRAF4	24095300	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.192000	0.42649	0.379000	0.24794	0.538000	0.68166	CGG	TRAF4	-	pirsf_TNF_rcpt--assoc_TRAF	ENSG00000076604		0.697	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	-	0.00	23	0	C	NM_145751		27071173	+1	tier1	-	no_errors	ENST00000262395	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	G
TRAF4	9618	genome.wustl.edu	37	17	27071173	27071173	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:27071173C>G	ENST00000262395.5	+	1	172	c.43C>G	c.(43-45)Cgg>Ggg	p.R15G	AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262396.6_Missense_Mutation_p.R15G|TRAF4_ENST00000444415.3_Missense_Mutation_p.R15G|AC010761.6_ENST00000582536.1_RNA|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	15					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCCAAGCGACGGCTGCTGTG	0.697																																																	0													19.0	23.0	21.0					17																	27071173		2200	4300	6500	SO:0001583	missense	0			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.43C>G	17.37:g.27071173C>G	ENSP00000262395:p.Arg15Gly		O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R15G	ENST00000262395.5	37	c.43	CCDS11243.1	17	.	.	.	.	.	.	.	.	.	.	c	14.78	2.637143	0.47049	.	.	ENSG00000076604	ENST00000262395;ENST00000454852;ENST00000422344;ENST00000444415;ENST00000262396;ENST00000394924;ENST00000394925	T;T;T;T	0.26373	2.12;2.32;1.76;1.74	4.08	2.05	0.26809	Zinc finger, RING/FYVE/PHD-type (1);	0.073354	0.53938	D	0.000043	T	0.17619	0.0423	L	0.28054	0.825	0.38768	D	0.954476	P;P	0.38827	0.649;0.626	B;B	0.41917	0.097;0.37	T	0.07028	-1.0794	10	0.87932	D	0	.	4.7122	0.12879	0.3846:0.5106:0.0:0.1048	.	15;15	Q9BUZ4;Q9BUZ4-2	TRAF4_HUMAN;.	G	15	ENSP00000262395:R15G;ENSP00000415789:R15G;ENSP00000438154:R15G;ENSP00000262396:R15G	ENSP00000262395:R15G	R	+	1	2	TRAF4	24095300	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.192000	0.42649	0.379000	0.24794	0.538000	0.68166	CGG	TRAF4	-	pirsf_TNF_rcpt--assoc_TRAF	ENSG00000076604		0.697	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	-	0.00	25	0	C	NM_145751		27071173	+1	tier1	-	no_errors	ENST00000262395	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	G
TRERF1	55809	genome.wustl.edu	37	6	42237087	42237087	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:42237087C>G	ENST00000372922.4	-	5	804	c.242G>C	c.(241-243)aGg>aCg	p.R81T	TRERF1_ENST00000372917.4_Missense_Mutation_p.R81T|TRERF1_ENST00000340840.2_Missense_Mutation_p.R81T|TRERF1_ENST00000541110.1_Missense_Mutation_p.R81T|TRERF1_ENST00000354325.2_Missense_Mutation_p.R81T	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	81					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCTCCCTGCCTCGAGGTATC	0.592																																																	0													121.0	114.0	116.0					6																	42237087		2203	4300	6503	SO:0001583	missense	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.242G>C	6.37:g.42237087C>G	ENSP00000362013:p.Arg81Thr		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.R81T	ENST00000372922.4	37	c.242	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422537	0.62622	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.17370	2.52;2.28;2.45;2.28;2.28	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.21674	0.0522	L	0.32530	0.975	0.35835	D	0.825625	D;D;D	0.71674	0.998;0.972;0.972	D;P;P	0.77557	0.99;0.875;0.875	T	0.01492	-1.1341	10	0.59425	D	0.04	-22.9592	14.5072	0.67761	0.1467:0.8533:0.0:0.0	.	81;81;81	Q96PN7-4;Q05GC8;Q96PN7	.;.;TREF1_HUMAN	T	81	ENSP00000439689:R81T;ENSP00000362008:R81T;ENSP00000362013:R81T;ENSP00000339438:R81T;ENSP00000346285:R81T	ENSP00000339438:R81T	R	-	2	0	TRERF1	42345065	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.089000	0.50183	2.664000	0.90586	0.561000	0.74099	AGG	TRERF1	-	NULL	ENSG00000124496		0.592	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	-	0.00	73	0	C	NM_033502		42237087	-1	tier1	-	no_errors	ENST00000541110	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.995	G
TRERF1	55809	genome.wustl.edu	37	6	42237087	42237087	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:42237087C>G	ENST00000372922.4	-	5	804	c.242G>C	c.(241-243)aGg>aCg	p.R81T	TRERF1_ENST00000372917.4_Missense_Mutation_p.R81T|TRERF1_ENST00000340840.2_Missense_Mutation_p.R81T|TRERF1_ENST00000541110.1_Missense_Mutation_p.R81T|TRERF1_ENST00000354325.2_Missense_Mutation_p.R81T	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	81					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCTCCCTGCCTCGAGGTATC	0.592																																																	0													121.0	114.0	116.0					6																	42237087		2203	4300	6503	SO:0001583	missense	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.242G>C	6.37:g.42237087C>G	ENSP00000362013:p.Arg81Thr		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.R81T	ENST00000372922.4	37	c.242	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422537	0.62622	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.17370	2.52;2.28;2.45;2.28;2.28	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.21674	0.0522	L	0.32530	0.975	0.35835	D	0.825625	D;D;D	0.71674	0.998;0.972;0.972	D;P;P	0.77557	0.99;0.875;0.875	T	0.01492	-1.1341	10	0.59425	D	0.04	-22.9592	14.5072	0.67761	0.1467:0.8533:0.0:0.0	.	81;81;81	Q96PN7-4;Q05GC8;Q96PN7	.;.;TREF1_HUMAN	T	81	ENSP00000439689:R81T;ENSP00000362008:R81T;ENSP00000362013:R81T;ENSP00000339438:R81T;ENSP00000346285:R81T	ENSP00000339438:R81T	R	-	2	0	TRERF1	42345065	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.089000	0.50183	2.664000	0.90586	0.561000	0.74099	AGG	TRERF1	-	NULL	ENSG00000124496		0.592	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	-	0.00	74	0	C	NM_033502		42237087	-1	tier1	-	no_errors	ENST00000541110	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.995	G
TRHDE	29953	genome.wustl.edu	37	12	73056836	73056836	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:73056836A>T	ENST00000261180.4	+	19	3032	c.2936A>T	c.(2935-2937)aAg>aTg	p.K979M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	979					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTCCAGCTCAAGAACTTCATG	0.373																																																	0													60.0	64.0	63.0					12																	73056836		2203	4300	6503	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2936A>T	12.37:g.73056836A>T	ENSP00000261180:p.Lys979Met		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.K979M	ENST00000261180.4	37	c.2936	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638017	0.47153	.	.	ENSG00000072657	ENST00000261180	T	0.06371	3.31	5.35	2.96	0.34315	.	0.000000	0.85682	D	0.000000	T	0.16342	0.0393	L	0.54965	1.715	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	T	0.00202	-1.1925	10	0.59425	D	0.04	.	9.9675	0.41734	0.8611:0.0:0.1389:0.0	.	979	Q9UKU6	TRHDE_HUMAN	M	979	ENSP00000261180:K979M	ENSP00000261180:K979M	K	+	2	0	TRHDE	71343103	1.000000	0.71417	0.993000	0.49108	0.727000	0.41649	5.446000	0.66600	0.424000	0.26061	0.455000	0.32223	AAG	TRHDE	-	NULL	ENSG00000072657		0.373	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0.00	55	0	A	NM_013381		73056836	+1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	19.23	42	10	SNP	1.000	T
TRHDE	29953	genome.wustl.edu	37	12	73056836	73056836	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:73056836A>T	ENST00000261180.4	+	19	3032	c.2936A>T	c.(2935-2937)aAg>aTg	p.K979M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	979					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTCCAGCTCAAGAACTTCATG	0.373																																																	0													60.0	64.0	63.0					12																	73056836		2203	4300	6503	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2936A>T	12.37:g.73056836A>T	ENSP00000261180:p.Lys979Met		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.K979M	ENST00000261180.4	37	c.2936	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638017	0.47153	.	.	ENSG00000072657	ENST00000261180	T	0.06371	3.31	5.35	2.96	0.34315	.	0.000000	0.85682	D	0.000000	T	0.16342	0.0393	L	0.54965	1.715	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	T	0.00202	-1.1925	10	0.59425	D	0.04	.	9.9675	0.41734	0.8611:0.0:0.1389:0.0	.	979	Q9UKU6	TRHDE_HUMAN	M	979	ENSP00000261180:K979M	ENSP00000261180:K979M	K	+	2	0	TRHDE	71343103	1.000000	0.71417	0.993000	0.49108	0.727000	0.41649	5.446000	0.66600	0.424000	0.26061	0.455000	0.32223	AAG	TRHDE	-	NULL	ENSG00000072657		0.373	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0.00	61	0	A	NM_013381		73056836	+1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	19.23	42	10	SNP	1.000	T
TRIB3	57761	genome.wustl.edu	37	20	377156	377156	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:377156C>T	ENST00000217233.3	+	4	1452	c.899C>T	c.(898-900)cCa>cTa	p.P300L	TRIB3_ENST00000422053.2_Missense_Mutation_p.P327L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CGTCGGGAGCCAGCTGAACGG	0.687																																					Melanoma(101;421 2374 19538)												0													44.0	43.0	43.0					20																	377156		2201	4293	6494	SO:0001583	missense	0			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.899C>T	20.37:g.377156C>T	ENSP00000217233:p.Pro300Leu		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.P327L	ENST00000217233.3	37	c.980	CCDS12997.1	20	.	.	.	.	.	.	.	.	.	.	C	30	5.055971	0.93793	.	.	ENSG00000101255	ENST00000217233;ENST00000422053	T;T	0.33216	1.42;1.42	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000164	T	0.72534	0.3472	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.84124	0.0408	10	0.87932	D	0	-15.8611	16.3235	0.82964	0.0:1.0:0.0:0.0	.	327;300	B4DMM9;Q96RU7	.;TRIB3_HUMAN	L	300;327	ENSP00000217233:P300L;ENSP00000415416:P327L	ENSP00000217233:P300L	P	+	2	0	TRIB3	325156	1.000000	0.71417	0.961000	0.40146	0.935000	0.57460	7.651000	0.83577	2.712000	0.92718	0.650000	0.86243	CCA	TRIB3	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000101255		0.687	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB3	HGNC	protein_coding	OTTHUMT00000077441.2	-	0.00	33	0	C	NM_021158		377156	+1	tier1	-	no_errors	ENST00000422053	ensembl	human	known	74_37	missense	27.03	27	10	SNP	1.000	T
TRIB3	57761	genome.wustl.edu	37	20	377156	377156	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:377156C>T	ENST00000217233.3	+	4	1452	c.899C>T	c.(898-900)cCa>cTa	p.P300L	TRIB3_ENST00000422053.2_Missense_Mutation_p.P327L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CGTCGGGAGCCAGCTGAACGG	0.687																																					Melanoma(101;421 2374 19538)												0													44.0	43.0	43.0					20																	377156		2201	4293	6494	SO:0001583	missense	0			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.899C>T	20.37:g.377156C>T	ENSP00000217233:p.Pro300Leu		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.P327L	ENST00000217233.3	37	c.980	CCDS12997.1	20	.	.	.	.	.	.	.	.	.	.	C	30	5.055971	0.93793	.	.	ENSG00000101255	ENST00000217233;ENST00000422053	T;T	0.33216	1.42;1.42	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000164	T	0.72534	0.3472	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.84124	0.0408	10	0.87932	D	0	-15.8611	16.3235	0.82964	0.0:1.0:0.0:0.0	.	327;300	B4DMM9;Q96RU7	.;TRIB3_HUMAN	L	300;327	ENSP00000217233:P300L;ENSP00000415416:P327L	ENSP00000217233:P300L	P	+	2	0	TRIB3	325156	1.000000	0.71417	0.961000	0.40146	0.935000	0.57460	7.651000	0.83577	2.712000	0.92718	0.650000	0.86243	CCA	TRIB3	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000101255		0.687	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB3	HGNC	protein_coding	OTTHUMT00000077441.2	-	0.00	58	0	C	NM_021158		377156	+1	tier1	-	no_errors	ENST00000422053	ensembl	human	known	74_37	missense	27.03	27	10	SNP	1.000	T
TRMT11	60487	genome.wustl.edu	37	6	126332443	126332443	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:126332443A>C	ENST00000334379.5	+	9	926	c.805A>C	c.(805-807)Aac>Cac	p.N269H	TRMT11_ENST00000368332.3_Missense_Mutation_p.N269H	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	269					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ACCAGATGAAAACATTAGGGC	0.388																																																	0													100.0	81.0	88.0					6																	126332443		2203	4300	6503	SO:0001583	missense	0			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.805A>C	6.37:g.126332443A>C	ENSP00000333934:p.Asn269His		E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	p.N269H	ENST00000334379.5	37	c.805	CCDS35496.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.4|26.4	4.732361|4.732361	0.89482|0.89482	.|.	.|.	ENSG00000066651|ENSG00000066651	ENST00000453993|ENST00000334379;ENST00000368332	.|T;T	.|0.45668	.|0.89;0.89	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Putative RNA methylase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59183|0.59183	0.2175|0.2175	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.987;0.995	T|T	0.65598|0.65598	-0.6129|-0.6129	5|10	.|0.72032	.|D	.|0.01	-16.7322|-16.7322	15.8389|15.8389	0.78824|0.78824	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|269;269	.|Q7Z4G4-2;Q7Z4G4	.|.;TRM11_HUMAN	T|H	67|269	.|ENSP00000333934:N269H;ENSP00000357316:N269H	.|ENSP00000333934:N269H	K|N	+|+	2|1	0|0	TRMT11|TRMT11	126374136|126374136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.210000|9.210000	0.95106|0.95106	2.150000|2.150000	0.67090|0.67090	0.533000|0.533000	0.62120|0.62120	AAA|AAC	TRMT11	-	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11	ENSG00000066651		0.388	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding		-	0.00	106	0	A	NM_021820		126332443	+1	tier1	-	no_errors	ENST00000334379	ensembl	human	known	74_37	missense	14.42	89	15	SNP	1.000	C
TRMT11	60487	genome.wustl.edu	37	6	126332443	126332443	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:126332443A>C	ENST00000334379.5	+	9	926	c.805A>C	c.(805-807)Aac>Cac	p.N269H	TRMT11_ENST00000368332.3_Missense_Mutation_p.N269H	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	269					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ACCAGATGAAAACATTAGGGC	0.388																																																	0													100.0	81.0	88.0					6																	126332443		2203	4300	6503	SO:0001583	missense	0			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.805A>C	6.37:g.126332443A>C	ENSP00000333934:p.Asn269His		E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	p.N269H	ENST00000334379.5	37	c.805	CCDS35496.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.4|26.4	4.732361|4.732361	0.89482|0.89482	.|.	.|.	ENSG00000066651|ENSG00000066651	ENST00000453993|ENST00000334379;ENST00000368332	.|T;T	.|0.45668	.|0.89;0.89	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Putative RNA methylase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59183|0.59183	0.2175|0.2175	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.987;0.995	T|T	0.65598|0.65598	-0.6129|-0.6129	5|10	.|0.72032	.|D	.|0.01	-16.7322|-16.7322	15.8389|15.8389	0.78824|0.78824	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|269;269	.|Q7Z4G4-2;Q7Z4G4	.|.;TRM11_HUMAN	T|H	67|269	.|ENSP00000333934:N269H;ENSP00000357316:N269H	.|ENSP00000333934:N269H	K|N	+|+	2|1	0|0	TRMT11|TRMT11	126374136|126374136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.210000|9.210000	0.95106|0.95106	2.150000|2.150000	0.67090|0.67090	0.533000|0.533000	0.62120|0.62120	AAA|AAC	TRMT11	-	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11	ENSG00000066651		0.388	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding		-	0.00	132	0	A	NM_021820		126332443	+1	tier1	-	no_errors	ENST00000334379	ensembl	human	known	74_37	missense	14.42	89	15	SNP	1.000	C
TRPA1	8989	genome.wustl.edu	37	8	72964920	72964920	+	Silent	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:72964920G>C	ENST00000262209.4	-	14	1932	c.1725C>G	c.(1723-1725)gtC>gtG	p.V575V	RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000524152.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	575					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCTTGTTCAGGACTATGTCAG	0.478																																																	0													165.0	140.0	148.0					8																	72964920		2203	4300	6503	SO:0001819	synonymous_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1725C>G	8.37:g.72964920G>C			A6NIN6	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V575	ENST00000262209.4	37	c.1725	CCDS34908.1	8																																																																																			TRPA1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.478	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0.00	64	0	G	NM_007332		72964920	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	silent	23.94	54	17	SNP	0.682	C
TRPA1	8989	genome.wustl.edu	37	8	72964920	72964920	+	Silent	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:72964920G>C	ENST00000262209.4	-	14	1932	c.1725C>G	c.(1723-1725)gtC>gtG	p.V575V	RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000524152.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	575					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCTTGTTCAGGACTATGTCAG	0.478																																																	0													165.0	140.0	148.0					8																	72964920		2203	4300	6503	SO:0001819	synonymous_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1725C>G	8.37:g.72964920G>C			A6NIN6	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V575	ENST00000262209.4	37	c.1725	CCDS34908.1	8																																																																																			TRPA1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.478	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0.00	77	0	G	NM_007332		72964920	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	silent	23.94	54	17	SNP	0.682	C
TRPC7	57113	genome.wustl.edu	37	5	135692654	135692654	+	Missense_Mutation	SNP	G	G	A	rs571109629		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:135692654G>A	ENST00000513104.1	-	2	704	c.422C>T	c.(421-423)cCg>cTg	p.P141L	TRPC7_ENST00000355180.3_Missense_Mutation_p.P141L|TRPC7_ENST00000426057.2_Missense_Mutation_p.P141L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	141					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGTTCCAGCGGGCTGAGCGT	0.672																																																	0													70.0	79.0	76.0					5																	135692654		2203	4299	6502	SO:0001583	missense	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.422C>T	5.37:g.135692654G>A	ENSP00000426070:p.Pro141Leu		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.P141L	ENST00000513104.1	37	c.422	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745564	0.69418	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.80033	-1.16;-1.33;-1.27	5.14	5.14	0.70334	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.63428	1.95	0.58432	D	0.999999	D;B;B;B	0.89917	1.0;0.047;0.017;0.017	D;B;B;B	0.81914	0.995;0.076;0.014;0.014	D	0.84095	0.0392	10	0.21540	T	0.41	-19.3673	18.7977	0.92001	0.0:0.0:1.0:0.0	.	141;141;141;141	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	L	141	ENSP00000347312:P141L;ENSP00000441628:P141L;ENSP00000426070:P141L	ENSP00000265193:P141L	P	-	2	0	TRPC7	135720553	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.657000	0.98554	2.666000	0.90696	0.561000	0.74099	CCG	TRPC7	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000069018		0.672	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	-	0.00	16	0	G	NM_020389		135692654	-1	tier1	-	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	50.00	4	4	SNP	1.000	A
TRPC7	57113	genome.wustl.edu	37	5	135692654	135692654	+	Missense_Mutation	SNP	G	G	A	rs571109629		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:135692654G>A	ENST00000513104.1	-	2	704	c.422C>T	c.(421-423)cCg>cTg	p.P141L	TRPC7_ENST00000355180.3_Missense_Mutation_p.P141L|TRPC7_ENST00000426057.2_Missense_Mutation_p.P141L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	141					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGTTCCAGCGGGCTGAGCGT	0.672																																																	0													70.0	79.0	76.0					5																	135692654		2203	4299	6502	SO:0001583	missense	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.422C>T	5.37:g.135692654G>A	ENSP00000426070:p.Pro141Leu		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.P141L	ENST00000513104.1	37	c.422	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745564	0.69418	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.80033	-1.16;-1.33;-1.27	5.14	5.14	0.70334	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.63428	1.95	0.58432	D	0.999999	D;B;B;B	0.89917	1.0;0.047;0.017;0.017	D;B;B;B	0.81914	0.995;0.076;0.014;0.014	D	0.84095	0.0392	10	0.21540	T	0.41	-19.3673	18.7977	0.92001	0.0:0.0:1.0:0.0	.	141;141;141;141	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	L	141	ENSP00000347312:P141L;ENSP00000441628:P141L;ENSP00000426070:P141L	ENSP00000265193:P141L	P	-	2	0	TRPC7	135720553	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.657000	0.98554	2.666000	0.90696	0.561000	0.74099	CCG	TRPC7	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000069018		0.672	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	-	0.00	21	0	G	NM_020389		135692654	-1	tier1	-	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	50.00	4	4	SNP	1.000	A
TRPM1	4308	genome.wustl.edu	37	15	31355402	31355402	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:31355402G>T	ENST00000256552.6	-	8	1031	c.884C>A	c.(883-885)cCc>cAc	p.P295H	TRPM1_ENST00000542188.1_Missense_Mutation_p.P312H|TRPM1_ENST00000397795.2_Missense_Mutation_p.P273H|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACAGGGATGGGAGGCTCTTC	0.607																																																	0													74.0	82.0	79.0					15																	31355402		2062	4200	6262	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.884C>A	15.37:g.31355402G>T	ENSP00000256552:p.Pro295His			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.P312H	ENST00000256552.6	37	c.935	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132007	0.77662	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.35973	1.28;1.28;1.28	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71787	-0.4487	10	0.87932	D	0	-21.5853	19.6614	0.95875	0.0:0.0:1.0:0.0	.	273;273	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	H	273;312;295;273	ENSP00000380897:P273H;ENSP00000437849:P312H;ENSP00000256552:P295H	ENSP00000256552:P295H	P	-	2	0	TRPM1	29142694	1.000000	0.71417	0.939000	0.37840	0.334000	0.28698	9.813000	0.99286	2.633000	0.89246	0.655000	0.94253	CCC	TRPM1	-	NULL	ENSG00000134160		0.607	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	-	0.00	77	0	G	NM_002420		31355402	-1	tier1	-	no_errors	ENST00000542188	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
TRPM2	7226	genome.wustl.edu	37	21	45833815	45833815	+	Missense_Mutation	SNP	G	G	A	rs148308750		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:45833815G>A	ENST00000397928.1	+	20	3449	c.3004G>A	c.(3004-3006)Gac>Aac	p.D1002N	TRPM2_ENST00000300482.5_Missense_Mutation_p.D1002N|AP001065.2_ENST00000423310.1_RNA|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.D1002N|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.D982N	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1002					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAATGGCACCGACCCCTACAA	0.607																																																	0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	192.0	195.0	194.0		3004	3.9	0.8	21	dbSNP_134	194	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRPM2	NM_003307.3	23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	1002/1504	45833815	2,13004	2203	4300	6503	SO:0001583	missense	0			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3004G>A	21.37:g.45833815G>A	ENSP00000381023:p.Asp1002Asn		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.D1002N	ENST00000397928.1	37	c.3004	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061022	0.76074	2.27E-4	1.16E-4	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	4.78	3.89	0.44902	Ion transport (1);	0.273467	0.33309	N	0.005050	T	0.71048	0.3294	L	0.41632	1.29	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.65987	0.94;0.94;0.94	T	0.66795	-0.5833	10	0.23891	T	0.37	-35.1395	13.139	0.59424	0.0786:0.0:0.9214:0.0	.	1002;788;1002	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	N	1002;1002;982;1002	ENSP00000300482:D1002N;ENSP00000381023:D1002N;ENSP00000300481:D982N;ENSP00000381026:D1002N	ENSP00000300481:D982N	D	+	1	0	TRPM2	44658243	1.000000	0.71417	0.817000	0.32601	0.889000	0.51656	4.293000	0.59037	1.135000	0.42183	0.591000	0.81541	GAC	TRPM2	-	pfam_Ion_trans_dom	ENSG00000142185		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1		0.00	68	0	G	NM_003307		45833815	+1			no_errors	ENST00000300482	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.971	A
TSPAN6	7105	genome.wustl.edu	37	X	99891563	99891563	+	Intron	DEL	G	G	-	rs371584138		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:99891563delG	ENST00000373020.4	-	1	199				TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6						negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						ACAACTAAAAGCCCGGGATCC	0.612																																																	0													23.0	21.0	22.0					X																	99891563		2183	4247	6430	SO:0001627	intron_variant	0			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.87+41C>-	X.37:g.99891563delG			Q54A42|Q6IAN9	RNA	DEL	-	NULL	ENST00000373020.4	37	NULL	CCDS14470.1	X																																																																																			TSPAN6	-	-	ENSG00000000003		0.612	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN6	HGNC	protein_coding	OTTHUMT00000057483.1		0.00	100	0	G			99891563	-1	tier1		no_errors	ENST00000496771	ensembl	human	known	74_37	rna	13.64	76	12	DEL	0.001	-
TSSC1	7260	genome.wustl.edu	37	2	3212447	3212447	+	Intron	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:3212447C>G	ENST00000382125.4	-	5	709				TSSC1_ENST00000443925.2_Missense_Mutation_p.L266F|TSSC1_ENST00000478754.1_Intron|TSSC1_ENST00000398659.4_Intron	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1											breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		AGTCATAACTCAACCCCAATT	0.537																																					Colon(140;1261 1762 4183 34270 49743)												0																																										SO:0001627	intron_variant	0			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.516+5472G>C	2.37:g.3212447C>G			D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.L266F	ENST00000382125.4	37	c.798	CCDS1651.1	2	.	.	.	.	.	.	.	.	.	.	C	2.065	-0.414527	0.04766	.	.	ENSG00000032389	ENST00000443925	.	.	.	1.26	0.319	0.15873	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36817	-0.9732	5	0.87932	D	0	.	3.4863	0.07620	0.0:0.718:0.0:0.282	.	.	.	.	F	266	.	ENSP00000389080:L266F	L	-	3	2	TSSC1	3191454	0.014000	0.17966	0.004000	0.12327	0.066000	0.16364	0.384000	0.20668	0.071000	0.16664	0.313000	0.20887	TTG	TSSC1	-	NULL	ENSG00000032389		0.537	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	HGNC	protein_coding	OTTHUMT00000206694.2	-	0.00	76	0	C	NM_003310		3212447	-1	tier1	-	no_errors	ENST00000443925	ensembl	human	putative	74_37	missense	9.52	57	6	SNP	0.005	G
TTC21B	79809	genome.wustl.edu	37	2	166781103	166781103	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:166781103A>G	ENST00000243344.7	-	12	1609	c.1472T>C	c.(1471-1473)cTt>cCt	p.L491P		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	491					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGTTTGCAGAAGACCTGGAAC	0.383																																																	0													49.0	51.0	50.0					2																	166781103		2203	4300	6503	SO:0001583	missense	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1472T>C	2.37:g.166781103A>G	ENSP00000243344:p.Leu491Pro		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L491P	ENST00000243344.7	37	c.1472	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117914	0.56505	.	.	ENSG00000123607	ENST00000243344	T	0.76839	-1.05	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90928	0.4788	10	0.87932	D	0	-14.7354	16.0824	0.81014	1.0:0.0:0.0:0.0	.	491	Q7Z4L5	TT21B_HUMAN	P	491	ENSP00000243344:L491P	ENSP00000243344:L491P	L	-	2	0	TTC21B	166489349	1.000000	0.71417	0.986000	0.45419	0.127000	0.20565	8.771000	0.91751	2.203000	0.70933	0.459000	0.35465	CTT	TTC21B	-	NULL	ENSG00000123607		0.383	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	-	0.00	121	0	A	NM_024753		166781103	-1	tier1	-	no_errors	ENST00000243344	ensembl	human	known	74_37	missense	8.22	67	6	SNP	1.000	G
TTC21B	79809	genome.wustl.edu	37	2	166781103	166781103	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:166781103A>G	ENST00000243344.7	-	12	1609	c.1472T>C	c.(1471-1473)cTt>cCt	p.L491P		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	491					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGTTTGCAGAAGACCTGGAAC	0.383																																																	0													49.0	51.0	50.0					2																	166781103		2203	4300	6503	SO:0001583	missense	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1472T>C	2.37:g.166781103A>G	ENSP00000243344:p.Leu491Pro		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L491P	ENST00000243344.7	37	c.1472	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117914	0.56505	.	.	ENSG00000123607	ENST00000243344	T	0.76839	-1.05	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90928	0.4788	10	0.87932	D	0	-14.7354	16.0824	0.81014	1.0:0.0:0.0:0.0	.	491	Q7Z4L5	TT21B_HUMAN	P	491	ENSP00000243344:L491P	ENSP00000243344:L491P	L	-	2	0	TTC21B	166489349	1.000000	0.71417	0.986000	0.45419	0.127000	0.20565	8.771000	0.91751	2.203000	0.70933	0.459000	0.35465	CTT	TTC21B	-	NULL	ENSG00000123607		0.383	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	-	0.00	68	0	A	NM_024753		166781103	-1	tier1	-	no_errors	ENST00000243344	ensembl	human	known	74_37	missense	8.22	67	6	SNP	1.000	G
TTC23L	153657	genome.wustl.edu	37	5	34839360	34839360	+	5'UTR	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:34839360C>A	ENST00000505624.1	+	0	92				TTC23L_ENST00000514080.1_3'UTR|CTD-2517O10.6_ENST00000606401.1_RNA	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like											breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GGCGCCCGGACCGAGGTGCGC	0.701																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.-12C>A	5.37:g.34839360C>A			Q6RGS4|Q8N7R3|Q96LJ2	RNA	SNP	-	NULL	ENST00000505624.1	37	NULL	CCDS54840.1	5																																																																																			TTC23L	-	-	ENSG00000205838		0.701	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	HGNC	protein_coding	OTTHUMT00000366819.1	-	0.00	38	0	C	NM_144725		34839360	+1	tier1	-	no_errors	ENST00000514080	ensembl	human	known	74_37	rna	21.95	32	9	SNP	0.000	A
TTC23L	153657	genome.wustl.edu	37	5	34839360	34839360	+	5'UTR	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:34839360C>A	ENST00000505624.1	+	0	92				TTC23L_ENST00000514080.1_3'UTR|CTD-2517O10.6_ENST00000606401.1_RNA	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like											breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GGCGCCCGGACCGAGGTGCGC	0.701																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.-12C>A	5.37:g.34839360C>A			Q6RGS4|Q8N7R3|Q96LJ2	RNA	SNP	-	NULL	ENST00000505624.1	37	NULL	CCDS54840.1	5																																																																																			TTC23L	-	-	ENSG00000205838		0.701	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	HGNC	protein_coding	OTTHUMT00000366819.1	-	0.00	53	0	C	NM_144725		34839360	+1	tier1	-	no_errors	ENST00000514080	ensembl	human	known	74_37	rna	21.95	32	9	SNP	0.000	A
TTN	7273	genome.wustl.edu	37	2	179439225	179439225	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:179439225T>G	ENST00000591111.1	-	276	66935	c.66711A>C	c.(66709-66711)aaA>aaC	p.K22237N	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K23878N|TTN_ENST00000342992.6_Missense_Mutation_p.K21310N|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14938N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15005N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14813N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22237	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTAAAGCTTTGCTCACAG	0.423																																																	0													212.0	210.0	211.0					2																	179439225		1912	4123	6035	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66711A>C	2.37:g.179439225T>G	ENSP00000465570:p.Lys22237Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K21310N	ENST00000591111.1	37	c.63930		2	.	.	.	.	.	.	.	.	.	.	T	9.804	1.181354	0.21787	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.7	2.15	0.27550	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65626	0.2709	M	0.63428	1.95	0.50632	D	0.999885	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.66736	-0.5848	9	0.87932	D	0	.	9.3386	0.38065	0.0:0.317:0.0:0.683	.	14813;14938;15005;22237	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	21310;14813;15005;14938;14811	ENSP00000343764:K21310N;ENSP00000434586:K14813N;ENSP00000340554:K15005N;ENSP00000352154:K14938N	ENSP00000340554:K15005N	K	-	3	2	TTN	179147471	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.342000	0.43992	0.997000	0.38969	0.528000	0.53228	AAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	37	0	T	NM_133378		179439225	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.998	G
TTN	7273	genome.wustl.edu	37	2	179439225	179439225	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:179439225T>G	ENST00000591111.1	-	276	66935	c.66711A>C	c.(66709-66711)aaA>aaC	p.K22237N	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K23878N|TTN_ENST00000342992.6_Missense_Mutation_p.K21310N|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14938N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15005N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14813N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22237	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTAAAGCTTTGCTCACAG	0.423																																																	0													212.0	210.0	211.0					2																	179439225		1912	4123	6035	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66711A>C	2.37:g.179439225T>G	ENSP00000465570:p.Lys22237Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K21310N	ENST00000591111.1	37	c.63930		2	.	.	.	.	.	.	.	.	.	.	T	9.804	1.181354	0.21787	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.7	2.15	0.27550	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65626	0.2709	M	0.63428	1.95	0.50632	D	0.999885	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.66736	-0.5848	9	0.87932	D	0	.	9.3386	0.38065	0.0:0.317:0.0:0.683	.	14813;14938;15005;22237	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	21310;14813;15005;14938;14811	ENSP00000343764:K21310N;ENSP00000434586:K14813N;ENSP00000340554:K15005N;ENSP00000352154:K14938N	ENSP00000340554:K15005N	K	-	3	2	TTN	179147471	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.342000	0.43992	0.997000	0.38969	0.528000	0.53228	AAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	54	0	T	NM_133378		179439225	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.998	G
TTN	7273	genome.wustl.edu	37	2	179606379	179606379	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:179606379delT	ENST00000591111.1	-	46	10854	c.10630delA	c.(10630-10632)accfs	p.T3544fs	TTN_ENST00000589042.1_Frame_Shift_Del_p.T3861fs|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Frame_Shift_Del_p.T3623fs|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.T3690fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.T3498fs|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13879	Ig-like 21.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGAAGGGGTTAATAGCACT	0.418																																																	0													123.0	118.0	120.0					2																	179606379		1919	4118	6037	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10630delA	2.37:g.179606379delT	ENSP00000465570:p.Thr3544fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T3690fs	ENST00000591111.1	37	c.11068		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	48	0	T	NM_133378		179606379	-1	tier1		no_errors	ENST00000342175	ensembl	human	known	74_37	frame_shift_del	50.00	23	23	DEL	1.000	-
TTN	7273	genome.wustl.edu	37	2	179606379	179606379	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:179606379delT	ENST00000591111.1	-	46	10854	c.10630delA	c.(10630-10632)accfs	p.T3544fs	TTN_ENST00000589042.1_Frame_Shift_Del_p.T3861fs|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Frame_Shift_Del_p.T3623fs|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.T3690fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.T3498fs|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13879	Ig-like 21.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGAAGGGGTTAATAGCACT	0.418																																																	0													123.0	118.0	120.0					2																	179606379		1919	4118	6037	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10630delA	2.37:g.179606379delT	ENSP00000465570:p.Thr3544fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T3690fs	ENST00000591111.1	37	c.11068		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	57	0	T	NM_133378		179606379	-1	tier1		no_errors	ENST00000342175	ensembl	human	known	74_37	frame_shift_del	50.00	23	23	DEL	1.000	-
TTN	7273	genome.wustl.edu	37	2	179583986	179583986	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:179583986A>C	ENST00000591111.1	-	81	23404	c.23180T>G	c.(23179-23181)cTg>cGg	p.L7727R	TTN_ENST00000589042.1_Missense_Mutation_p.L8044R|TTN_ENST00000342992.6_Missense_Mutation_p.L6800R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13270	Ig-like 59.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACAAGCTCAGATTCAAAGT	0.507																																																	0													103.0	106.0	105.0					2																	179583986		1969	4159	6128	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23180T>G	2.37:g.179583986A>C	ENSP00000465570:p.Leu7727Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L6800R	ENST00000591111.1	37	c.20399		2	.	.	.	.	.	.	.	.	.	.	A	10.27	1.302725	0.23736	.	.	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79724	0.4495	M	0.93062	3.375	0.80722	D	1	P	0.47484	0.896	P	0.46629	0.522	D	0.85095	0.0954	9	0.87932	D	0	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	7727	Q8WZ42	TITIN_HUMAN	R	6800	ENSP00000343764:L6800R	ENSP00000343764:L6800R	L	-	2	0	TTN	179292231	0.054000	0.20591	1.000000	0.80357	0.983000	0.72400	3.430000	0.52807	2.333000	0.79357	0.533000	0.62120	CTG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.507	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	83	0	A	NM_133378		179583986	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.851	C
TULP4	56995	genome.wustl.edu	37	6	158923470	158923470	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:158923470G>A	ENST00000367097.3	+	13	4132	c.2775G>A	c.(2773-2775)ttG>ttA	p.L925L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	925					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTGCCACCTTGAGGCTCACGG	0.677																																																	0													59.0	64.0	62.0					6																	158923470		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2775G>A	6.37:g.158923470G>A			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L925	ENST00000367097.3	37	c.2775	CCDS34561.1	6																																																																																			TULP4	-	NULL	ENSG00000130338		0.677	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	-	0.00	104	0	G	NM_020245		158923470	+1	tier1	-	no_errors	ENST00000367097	ensembl	human	known	74_37	silent	41.67	35	25	SNP	1.000	A
TULP4	56995	genome.wustl.edu	37	6	158923470	158923470	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:158923470G>A	ENST00000367097.3	+	13	4132	c.2775G>A	c.(2773-2775)ttG>ttA	p.L925L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	925					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTGCCACCTTGAGGCTCACGG	0.677																																																	0													59.0	64.0	62.0					6																	158923470		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2775G>A	6.37:g.158923470G>A			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L925	ENST00000367097.3	37	c.2775	CCDS34561.1	6																																																																																			TULP4	-	NULL	ENSG00000130338		0.677	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	-	0.00	108	0	G	NM_020245		158923470	+1	tier1	-	no_errors	ENST00000367097	ensembl	human	known	74_37	silent	41.67	35	25	SNP	1.000	A
UBAC2	337867	genome.wustl.edu	37	13	99970286	99970286	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:99970286C>G	ENST00000403766.3	+	6	659	c.524C>G	c.(523-525)tCt>tGt	p.S175C	UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000376440.2_Missense_Mutation_p.S140C	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	175					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTTTCACCTCTGGTTCCTAC	0.343																																																	0													117.0	110.0	113.0					13																	99970286		2203	4300	6503	SO:0001583	missense	0			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.524C>G	13.37:g.99970286C>G	ENSP00000383911:p.Ser175Cys		B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S140C	ENST00000403766.3	37	c.419	CCDS45064.1	13	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504555	0.85176	.	.	ENSG00000134882	ENST00000403766;ENST00000376440	T	0.12147	2.71	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	P;D;D;P	0.87578	0.894;0.998;0.922;0.846	T	0.09100	-1.0690	9	.	.	.	-23.9245	19.848	0.96722	0.0:1.0:0.0:0.0	.	105;140;175;175	B7Z6T7;Q8NBM4-2;A8K2S7;Q8NBM4	.;.;.;UBAC2_HUMAN	C	175;140	ENSP00000383911:S175C	.	S	+	2	0	UBAC2	98768287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.858000	0.69532	2.937000	0.99478	0.650000	0.86243	TCT	UBAC2	-	NULL	ENSG00000134882		0.343	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	UBAC2	HGNC	protein_coding	OTTHUMT00000045588.1	-	0.00	52	0	C	NM_177967		99970286	+1	tier1	-	no_errors	ENST00000376440	ensembl	human	known	74_37	missense	39.58	29	19	SNP	1.000	G
UBAC2	337867	genome.wustl.edu	37	13	99970286	99970286	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:99970286C>G	ENST00000403766.3	+	6	659	c.524C>G	c.(523-525)tCt>tGt	p.S175C	UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000376440.2_Missense_Mutation_p.S140C	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	175					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTTTCACCTCTGGTTCCTAC	0.343																																																	0													117.0	110.0	113.0					13																	99970286		2203	4300	6503	SO:0001583	missense	0			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.524C>G	13.37:g.99970286C>G	ENSP00000383911:p.Ser175Cys		B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S140C	ENST00000403766.3	37	c.419	CCDS45064.1	13	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504555	0.85176	.	.	ENSG00000134882	ENST00000403766;ENST00000376440	T	0.12147	2.71	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	P;D;D;P	0.87578	0.894;0.998;0.922;0.846	T	0.09100	-1.0690	9	.	.	.	-23.9245	19.848	0.96722	0.0:1.0:0.0:0.0	.	105;140;175;175	B7Z6T7;Q8NBM4-2;A8K2S7;Q8NBM4	.;.;.;UBAC2_HUMAN	C	175;140	ENSP00000383911:S175C	.	S	+	2	0	UBAC2	98768287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.858000	0.69532	2.937000	0.99478	0.650000	0.86243	TCT	UBAC2	-	NULL	ENSG00000134882		0.343	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	UBAC2	HGNC	protein_coding	OTTHUMT00000045588.1	-	0.00	83	0	C	NM_177967		99970286	+1	tier1	-	no_errors	ENST00000376440	ensembl	human	known	74_37	missense	39.58	29	19	SNP	1.000	G
UBQLNL	143630	genome.wustl.edu	37	11	5537370	5537370	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:5537370T>G	ENST00000380184.1	-	1	565	c.302A>C	c.(301-303)aAg>aCg	p.K101T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	101	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTGCTTGGACTTGATGACCAA	0.542																																																	0													198.0	173.0	182.0					11																	5537370		2201	4297	6498	SO:0001583	missense	0			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.302A>C	11.37:g.5537370T>G	ENSP00000369531:p.Lys101Thr		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.K101T	ENST00000380184.1	37	c.302	CCDS31385.1	11	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457954	0.43634	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.55052	0.54	5.52	4.39	0.52855	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.48286	D	0.000198	T	0.67590	0.2909	M	0.82193	2.58	0.30569	N	0.763728	P	0.46142	0.873	P	0.53185	0.72	T	0.71656	-0.4527	10	0.87932	D	0	.	12.2729	0.54716	0.1292:0.0:0.0:0.8708	.	101	Q8IYU4	UBQLN_HUMAN	T	101	ENSP00000369531:K101T	ENSP00000369531:K101T	K	-	2	0	UBQLNL	5493946	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	0.496000	0.22499	0.366000	0.24427	-1.980000	0.00456	AAG	UBQLNL	-	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	ENSG00000175518		0.542	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1	-	0.00	30	0	T	NM_145053		5537370	-1	tier1	-	no_errors	ENST00000380184	ensembl	human	putative	74_37	missense	33.33	16	8	SNP	1.000	G
UBQLNL	143630	genome.wustl.edu	37	11	5537370	5537370	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:5537370T>G	ENST00000380184.1	-	1	565	c.302A>C	c.(301-303)aAg>aCg	p.K101T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	101	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTGCTTGGACTTGATGACCAA	0.542																																																	0													198.0	173.0	182.0					11																	5537370		2201	4297	6498	SO:0001583	missense	0			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.302A>C	11.37:g.5537370T>G	ENSP00000369531:p.Lys101Thr		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.K101T	ENST00000380184.1	37	c.302	CCDS31385.1	11	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457954	0.43634	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.55052	0.54	5.52	4.39	0.52855	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.48286	D	0.000198	T	0.67590	0.2909	M	0.82193	2.58	0.30569	N	0.763728	P	0.46142	0.873	P	0.53185	0.72	T	0.71656	-0.4527	10	0.87932	D	0	.	12.2729	0.54716	0.1292:0.0:0.0:0.8708	.	101	Q8IYU4	UBQLN_HUMAN	T	101	ENSP00000369531:K101T	ENSP00000369531:K101T	K	-	2	0	UBQLNL	5493946	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	0.496000	0.22499	0.366000	0.24427	-1.980000	0.00456	AAG	UBQLNL	-	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	ENSG00000175518		0.542	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1	-	0.00	32	0	T	NM_145053		5537370	-1	tier1	-	no_errors	ENST00000380184	ensembl	human	putative	74_37	missense	33.33	16	8	SNP	1.000	G
UCN2	90226	genome.wustl.edu	37	3	48600362	48600362	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:48600362G>T	ENST00000273610.3	-	2	278	c.196C>A	c.(196-198)Cgc>Agc	p.R66S	PFKFB4_ENST00000536104.1_5'Flank|COL7A1_ENST00000470076.1_5'Flank	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	66					cAMP biosynthetic process (GO:0006171)|cell proliferation (GO:0008283)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|digestion (GO:0007586)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of gene expression (GO:0010629)|negative regulation of luteinizing hormone secretion (GO:0033685)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone binding (GO:0042562)|receptor binding (GO:0005102)								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGGGTGGCGGGTGGGGCTG	0.672																																																	0													17.0	20.0	19.0					3																	48600362		2203	4297	6500	SO:0001583	missense	0			AF320560	CCDS2772.1	3p21.3	2013-02-28			ENSG00000145040	ENSG00000145040		"""Endogenous ligands"""	18414	protein-coding gene	gene with protein product	"""prepro-urocortin 2"""	605902				11329063	Standard	NM_033199		Approved	UCNI, SRP, URP, UCN-II	uc003cty.1	Q96RP3	OTTHUMG00000133533	ENST00000273610.3:c.196C>A	3.37:g.48600362G>T	ENSP00000273610:p.Arg66Ser		Q9BUG0	Missense_Mutation	SNP	pfam_Urocortin_II/III	p.R66S	ENST00000273610.3	37	c.196	CCDS2772.1	3	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967615	0.34754	.	.	ENSG00000145040	ENST00000273610	.	.	.	4.93	1.89	0.25635	.	0.199663	0.25241	N	0.032090	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14090	-1.0485	9	0.46703	T	0.11	-15.6106	5.9681	0.19336	0.1961:0.1632:0.6407:0.0	.	66	Q96RP3	UCN2_HUMAN	S	66	.	ENSP00000273610:R66S	R	-	1	0	UCN2	48575366	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.039000	0.13884	0.646000	0.30693	0.655000	0.94253	CGC	UCN2	-	NULL	ENSG00000145040		0.672	UCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCN2	HGNC	protein_coding	OTTHUMT00000257510.1		0.00	47	0	G	NM_033199		48600362	-1			no_errors	ENST00000273610	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.000	T
UGT3A2	167127	genome.wustl.edu	37	5	36051985	36051985	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:36051985T>A	ENST00000282507.3	-	3	399	c.298A>T	c.(298-300)Act>Tct	p.T100S	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T66S|UGT3A2_ENST00000504954.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	100					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACCTAAAGTTTCTTCCAGA	0.318																																																	0													44.0	47.0	46.0					5																	36051985		2201	4299	6500	SO:0001583	missense	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.298A>T	5.37:g.36051985T>A	ENSP00000282507:p.Thr100Ser		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T100S	ENST00000282507.3	37	c.298	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	T	2.242	-0.373608	0.05034	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000515131	T;T;T	0.59083	0.29;0.29;1.55	3.33	-1.19	0.09585	.	9.883580	0.01064	U	0.004696	T	0.31638	0.0803	N	0.05383	-0.06	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.009	T	0.12528	-1.0544	10	0.09843	T	0.71	.	2.5992	0.04862	0.36:0.2585:0.0:0.3816	.	66;100	E9PFK7;Q3SY77	.;UD3A2_HUMAN	S	100;66;100	ENSP00000282507:T100S;ENSP00000427404:T66S;ENSP00000420865:T100S	ENSP00000282507:T100S	T	-	1	0	UGT3A2	36087742	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.445000	0.06845	-0.256000	0.09473	-0.242000	0.12053	ACT	UGT3A2	-	pfam_UDP_glucos_trans	ENSG00000168671		0.318	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	-	0.00	169	0	T	NM_174914		36051985	-1	tier1	-	no_errors	ENST00000282507	ensembl	human	known	74_37	missense	16.50	86	17	SNP	0.001	A
UGT3A2	167127	genome.wustl.edu	37	5	36051985	36051985	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:36051985T>A	ENST00000282507.3	-	3	399	c.298A>T	c.(298-300)Act>Tct	p.T100S	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T66S|UGT3A2_ENST00000504954.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	100					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACCTAAAGTTTCTTCCAGA	0.318																																																	0													44.0	47.0	46.0					5																	36051985		2201	4299	6500	SO:0001583	missense	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.298A>T	5.37:g.36051985T>A	ENSP00000282507:p.Thr100Ser		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T100S	ENST00000282507.3	37	c.298	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	T	2.242	-0.373608	0.05034	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000515131	T;T;T	0.59083	0.29;0.29;1.55	3.33	-1.19	0.09585	.	9.883580	0.01064	U	0.004696	T	0.31638	0.0803	N	0.05383	-0.06	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.009	T	0.12528	-1.0544	10	0.09843	T	0.71	.	2.5992	0.04862	0.36:0.2585:0.0:0.3816	.	66;100	E9PFK7;Q3SY77	.;UD3A2_HUMAN	S	100;66;100	ENSP00000282507:T100S;ENSP00000427404:T66S;ENSP00000420865:T100S	ENSP00000282507:T100S	T	-	1	0	UGT3A2	36087742	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.445000	0.06845	-0.256000	0.09473	-0.242000	0.12053	ACT	UGT3A2	-	pfam_UDP_glucos_trans	ENSG00000168671		0.318	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	-	0.00	84	0	T	NM_174914		36051985	-1	tier1	-	no_errors	ENST00000282507	ensembl	human	known	74_37	missense	16.50	86	17	SNP	0.001	A
UMOD	7369	genome.wustl.edu	37	16	20360192	20360192	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:20360192T>C	ENST00000570689.1	-	3	577	c.431A>G	c.(430-432)gAt>gGt	p.D144G	UMOD_ENST00000396138.4_Missense_Mutation_p.D193G|UMOD_ENST00000396142.2_Missense_Mutation_p.D144G|UMOD_ENST00000396134.2_Missense_Mutation_p.D177G|UMOD_ENST00000302509.4_Missense_Mutation_p.D144G|UMOD_ENST00000424589.1_Missense_Mutation_p.D177G			P07911	UROM_HUMAN	uromodulin	144	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGCCATCCATCCCCCCGGTA	0.701																																																	0													11.0	12.0	12.0					16																	20360192		2147	4190	6337	SO:0001583	missense	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.431A>G	16.37:g.20360192T>C	ENSP00000460548:p.Asp144Gly		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.D177G	ENST00000570689.1	37	c.530	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	t	19.01	3.743208	0.69418	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000396142	D;D;D;D	0.99239	-5.61;-5.61;-2.33;-2.33	5.45	4.36	0.52297	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.229903	0.30410	N	0.009697	D	0.97882	0.9304	N	0.25332	0.735	0.35680	D	0.814004	P;P	0.52692	0.955;0.72	P;B	0.52424	0.698;0.434	D	0.98977	1.0803	10	0.51188	T	0.08	-19.4721	9.2974	0.37824	0.0:0.0855:0.0:0.9145	.	177;144	E9PEA4;P07911	.;UROM_HUMAN	G	144;177;177;144;144	ENSP00000379438:D177G;ENSP00000416346:D177G;ENSP00000306279:D144G;ENSP00000379446:D144G	ENSP00000306279:D144G	D	-	2	0	UMOD	20267693	0.882000	0.30256	0.211000	0.23655	0.582000	0.36321	2.470000	0.45119	0.904000	0.36572	0.454000	0.30748	GAT	UMOD	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000169344		0.701	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	-	0.00	76	0	T			20360192	-1	tier1	-	no_errors	ENST00000424589	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.996	C
UNC13A	23025	genome.wustl.edu	37	19	17780382	17780382	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:17780382G>T	ENST00000519716.2	-	5	373	c.374C>A	c.(373-375)aCg>aAg	p.T125K	UNC13A_ENST00000428389.2_Missense_Mutation_p.T213K|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125K|UNC13A_ENST00000551649.1_Missense_Mutation_p.T125K|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125K|UNC13A_ENST00000252773.7_Missense_Mutation_p.T125K	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	125					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.T213M(2)|p.T125M(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCAAAGCGCGTGTCCAGGAG	0.612																																																	4	Substitution - Missense(4)	prostate(2)|lung(2)											38.0	42.0	41.0					19																	17780382		2053	4191	6244	SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.374C>A	19.37:g.17780382G>T	ENSP00000429562:p.Thr125Lys		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T213K	ENST00000519716.2	37	c.638	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884233	0.72410	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.92	4.92	0.64577	C2 calcium/lipid-binding domain, CaLB (1);	0.063724	0.64402	U	0.000009	T	0.67979	0.2951	M	0.65498	2.005	0.38578	D	0.950105	B	0.32203	0.36	B	0.25405	0.06	T	0.74368	-0.3688	10	0.72032	D	0.01	-13.1865	15.6173	0.76778	0.0:0.0:1.0:0.0	.	125	Q9UPW8	UN13A_HUMAN	K	125;213;125;125;125;125	ENSP00000429562:T125K;ENSP00000400409:T213K;ENSP00000252773:T125K;ENSP00000447236:T125K;ENSP00000447572:T125K;ENSP00000446831:T125K	ENSP00000252773:T125K	T	-	2	0	UNC13A	17641382	1.000000	0.71417	0.945000	0.38365	0.925000	0.55904	6.480000	0.73604	2.283000	0.76528	0.561000	0.74099	ACG	UNC13A	-	superfamily_C2_dom	ENSG00000130477		0.612	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2		0.00	59	0	G	XM_038604		17780382	-1			no_errors	ENST00000428389	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216074201	216074201	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:216074201G>T	ENST00000307340.3	-	39	7733	c.7347C>A	c.(7345-7347)acC>acA	p.T2449T	USH2A_ENST00000366943.2_Silent_p.T2449T|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2449	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGAAGACTGGTTGGAGTGG	0.512										HNSCC(13;0.011)																																							0													108.0	107.0	107.0					1																	216074201		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7347C>A	1.37:g.216074201G>T			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T2449	ENST00000307340.3	37	c.7347	CCDS31025.1	1																																																																																			USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.512	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	59	0	G	NM_007123		216074201	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	33.33	48	24	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216074201	216074201	+	Silent	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:216074201G>T	ENST00000307340.3	-	39	7733	c.7347C>A	c.(7345-7347)acC>acA	p.T2449T	USH2A_ENST00000366943.2_Silent_p.T2449T|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2449	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGAAGACTGGTTGGAGTGG	0.512										HNSCC(13;0.011)																																							0													108.0	107.0	107.0					1																	216074201		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7347C>A	1.37:g.216074201G>T			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T2449	ENST00000307340.3	37	c.7347	CCDS31025.1	1																																																																																			USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.512	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	71	0	G	NM_007123		216074201	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	33.33	48	24	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216373122	216373122	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:216373122C>G	ENST00000307340.3	-	17	4044	c.3658G>C	c.(3658-3660)Gta>Cta	p.V1220L	USH2A_ENST00000366943.2_Missense_Mutation_p.V1220L|USH2A_ENST00000366942.3_Missense_Mutation_p.V1220L|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1220	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACGCCTGTACAGAAAAATCG	0.517										HNSCC(13;0.011)																																							0													82.0	84.0	83.0					1																	216373122		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3658G>C	1.37:g.216373122C>G	ENSP00000305941:p.Val1220Leu		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.V1220L	ENST00000307340.3	37	c.3658	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467612	0.26335	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.72282	-0.64;-0.64;-0.64	5.87	4.91	0.64330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40385	N	0.001113	T	0.60143	0.2246	L	0.33189	0.99	0.36942	D	0.892448	B;B	0.20261	0.043;0.031	B;B	0.23574	0.023;0.047	T	0.57046	-0.7878	10	0.12766	T	0.61	.	16.8437	0.85975	0.0:0.8718:0.1282:0.0	.	1220;1220	O75445-2;O75445	.;USH2A_HUMAN	L	1220	ENSP00000305941:V1220L;ENSP00000355910:V1220L;ENSP00000355909:V1220L	ENSP00000305941:V1220L	V	-	1	0	USH2A	214439745	1.000000	0.71417	0.897000	0.35233	0.660000	0.38997	1.315000	0.33608	2.941000	0.99782	0.655000	0.94253	GTA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.517	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	101	0	C	NM_007123		216373122	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	12.50	63	9	SNP	0.999	G
USH2A	7399	genome.wustl.edu	37	1	216373122	216373122	+	Missense_Mutation	SNP	C	C	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:216373122C>G	ENST00000307340.3	-	17	4044	c.3658G>C	c.(3658-3660)Gta>Cta	p.V1220L	USH2A_ENST00000366943.2_Missense_Mutation_p.V1220L|USH2A_ENST00000366942.3_Missense_Mutation_p.V1220L|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1220	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACGCCTGTACAGAAAAATCG	0.517										HNSCC(13;0.011)																																							0													82.0	84.0	83.0					1																	216373122		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3658G>C	1.37:g.216373122C>G	ENSP00000305941:p.Val1220Leu		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.V1220L	ENST00000307340.3	37	c.3658	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467612	0.26335	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.72282	-0.64;-0.64;-0.64	5.87	4.91	0.64330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40385	N	0.001113	T	0.60143	0.2246	L	0.33189	0.99	0.36942	D	0.892448	B;B	0.20261	0.043;0.031	B;B	0.23574	0.023;0.047	T	0.57046	-0.7878	10	0.12766	T	0.61	.	16.8437	0.85975	0.0:0.8718:0.1282:0.0	.	1220;1220	O75445-2;O75445	.;USH2A_HUMAN	L	1220	ENSP00000305941:V1220L;ENSP00000355910:V1220L;ENSP00000355909:V1220L	ENSP00000305941:V1220L	V	-	1	0	USH2A	214439745	1.000000	0.71417	0.897000	0.35233	0.660000	0.38997	1.315000	0.33608	2.941000	0.99782	0.655000	0.94253	GTA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.517	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	54	0	C	NM_007123		216373122	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	12.50	63	9	SNP	0.999	G
USP17L2	377630	genome.wustl.edu	37	8	11996188	11996188	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:11996188C>T	ENST00000333796.3	-	1	398	c.82G>A	c.(82-84)Gct>Act	p.A28T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	28					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCAGCAAAAGCTGCATCTGGC	0.527																																																	0													22.0	26.0	25.0					8																	11996188		945	2140	3085	SO:0001583	missense	0			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.82G>A	8.37:g.11996188C>T	ENSP00000333329:p.Ala28Thr			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.A28T	ENST00000333796.3	37	c.82	CCDS43713.1	8	.	.	.	.	.	.	.	.	.	.	c	7.642	0.681184	0.14907	.	.	ENSG00000223443	ENST00000333796	T	0.12774	2.65	0.36	0.36	0.16097	.	4.515270	0.01953	U	0.042814	T	0.08088	0.0202	N	0.14661	0.345	0.09310	N	1	P	0.36438	0.553	B	0.28553	0.091	T	0.27400	-1.0075	9	0.59425	D	0.04	.	.	.	.	.	28	Q6R6M4	U17L2_HUMAN	T	28	ENSP00000333329:A28T	ENSP00000333329:A28T	A	-	1	0	USP17L2	12033597	0.035000	0.19736	0.004000	0.12327	0.004000	0.04260	0.442000	0.21628	0.469000	0.27268	0.472000	0.43445	GCT	USP17L2	-	NULL	ENSG00000223443		0.527	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2		0.00	216	0	C	NM_201402		11996188	-1			no_errors	ENST00000333796	ensembl	human	known	74_37	missense	6.56	114	8	SNP	0.028	T
USP46	64854	genome.wustl.edu	37	4	53470744	53470744	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:53470744G>A	ENST00000441222.3	-	6	829	c.645C>T	c.(643-645)ttC>ttT	p.F215F	USP46_ENST00000451218.2_Silent_p.F188F|USP46_ENST00000508499.1_Silent_p.F208F	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	215	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CTGTGTTGCTGAAGTCTCTGT	0.343																																																	0													132.0	120.0	124.0					4																	53470744		1828	4083	5911	SO:0001819	synonymous_variant	0			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.645C>T	4.37:g.53470744G>A			B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.F215	ENST00000441222.3	37	c.645	CCDS47053.1	4																																																																																			USP46	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000109189		0.343	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP46	HGNC	protein_coding	OTTHUMT00000361516.2	-	0.00	122	0	G	NM_022832		53470744	-1	tier1	-	no_errors	ENST00000441222	ensembl	human	known	74_37	silent	26.25	59	21	SNP	1.000	A
USP46	64854	genome.wustl.edu	37	4	53470744	53470744	+	Silent	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:53470744G>A	ENST00000441222.3	-	6	829	c.645C>T	c.(643-645)ttC>ttT	p.F215F	USP46_ENST00000451218.2_Silent_p.F188F|USP46_ENST00000508499.1_Silent_p.F208F	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	215	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CTGTGTTGCTGAAGTCTCTGT	0.343																																																	0													132.0	120.0	124.0					4																	53470744		1828	4083	5911	SO:0001819	synonymous_variant	0			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.645C>T	4.37:g.53470744G>A			B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.F215	ENST00000441222.3	37	c.645	CCDS47053.1	4																																																																																			USP46	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000109189		0.343	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP46	HGNC	protein_coding	OTTHUMT00000361516.2	-	0.00	74	0	G	NM_022832		53470744	-1	tier1	-	no_errors	ENST00000441222	ensembl	human	known	74_37	silent	26.25	59	21	SNP	1.000	A
USP54	159195	genome.wustl.edu	37	10	75294426	75294426	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:75294426G>T	ENST00000339859.4	-	11	1347	c.1247C>A	c.(1246-1248)tCt>tAt	p.S416Y	USP54_ENST00000394811.2_De_novo_Start_OutOfFrame|USP54_ENST00000497106.1_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.S416Y|USP54_ENST00000319786.7_Missense_Mutation_p.S416Y|USP54_ENST00000428547.1_Missense_Mutation_p.S266Y			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	416					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTGAGAATCAGAAGAGAAGTG	0.493																																					Colon(195;880 2046 8854 25025 38456)												0													133.0	129.0	130.0					10																	75294426		1925	4125	6050	SO:0001583	missense	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1247C>A	10.37:g.75294426G>T	ENSP00000345216:p.Ser416Tyr		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S416Y	ENST00000339859.4	37	c.1247	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312028	0.81358	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T	0.46819	1.01;1.01;0.86	5.54	5.54	0.83059	.	1.033900	0.07831	U	0.961312	T	0.66025	0.2748	L	0.38175	1.15	0.34322	D	0.686641	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.85130	0.996;0.994;0.997	T	0.67106	-0.5754	10	0.87932	D	0	-5.4508	19.5024	0.95100	0.0:0.0:1.0:0.0	.	416;416;416	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	Y	416;416;266;416	ENSP00000345216:S416Y;ENSP00000386080:S416Y;ENSP00000408714:S266Y	ENSP00000326547:S416Y	S	-	2	0	USP54	74964432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.017000	0.93651	2.607000	0.88179	0.655000	0.94253	TCT	USP54	-	NULL	ENSG00000166348		0.493	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	-	0.00	89	0	G	NM_152586		75294426	-1	tier1	-	no_errors	ENST00000339859	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
VAPB	9217	genome.wustl.edu	37	20	57020741	57020744	+	3'UTR	DEL	TGTG	TGTG	-	rs138225455|rs146547877|rs200528716		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	TGTG	TGTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:57020741_57020744delTGTG	ENST00000475243.1	+	0	2520_2523				VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GATTTAACTCtgtgtgtgtgtgtg	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.*1453TGTG>-	20.37:g.57020749_57020752delTGTG			A2A2F2|O95293|Q9P0H0	RNA	DEL	-	NULL	ENST00000475243.1	37	NULL	CCDS33498.1	20																																																																																			VAPB	-	-	ENSG00000124164		0.353	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPB	HGNC	protein_coding	OTTHUMT00000079875.2		0.00	20	0	TGTG			57020744	+1	tier1		no_errors	ENST00000265619	ensembl	human	known	74_37	rna	10.53	34	4	DEL	0.001:0.001:0.000:0.000	-
VASH1	22846	genome.wustl.edu	37	14	77236248	77236248	+	Intron	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:77236248G>A	ENST00000167106.4	+	2	942				VASH1_ENST00000556038.1_3'UTR|VASH1_ENST00000554237.1_Intron	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1						angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GTGTTTGGTGGACTGGAAGCT	0.607																																																	0																																										SO:0001627	intron_variant	0			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.310-58G>A	14.37:g.77236248G>A			Q96H02|Q9UBF4|Q9Y629	RNA	SNP	-	NULL	ENST00000167106.4	37	NULL	CCDS9851.1	14																																																																																			VASH1	-	-	ENSG00000071246		0.607	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	HGNC	protein_coding	OTTHUMT00000413706.1	-	0.00	48	0	G	NM_014909		77236248	+1	tier1	-	no_errors	ENST00000556038	ensembl	human	known	74_37	rna	23.40	36	11	SNP	0.000	A
VASH1	22846	genome.wustl.edu	37	14	77236248	77236248	+	Intron	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:77236248G>A	ENST00000167106.4	+	2	942				VASH1_ENST00000556038.1_3'UTR|VASH1_ENST00000554237.1_Intron	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1						angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GTGTTTGGTGGACTGGAAGCT	0.607																																																	0																																										SO:0001627	intron_variant	0			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.310-58G>A	14.37:g.77236248G>A			Q96H02|Q9UBF4|Q9Y629	RNA	SNP	-	NULL	ENST00000167106.4	37	NULL	CCDS9851.1	14																																																																																			VASH1	-	-	ENSG00000071246		0.607	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	HGNC	protein_coding	OTTHUMT00000413706.1	-	0.00	78	0	G	NM_014909		77236248	+1	tier1	-	no_errors	ENST00000556038	ensembl	human	known	74_37	rna	23.40	36	11	SNP	0.000	A
VAV2	7410	genome.wustl.edu	37	9	136662837	136662837	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:136662837C>T	ENST00000371850.3	-	10	962	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	VAV2_ENST00000371851.1_Missense_Mutation_p.V306I|VAV2_ENST00000406606.3_Missense_Mutation_p.V306I	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	311	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTACCTCGACTTTCTGCCTG	0.607																																																	0													100.0	83.0	89.0					9																	136662837		2203	4300	6503	SO:0001583	missense	0				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.931G>A	9.37:g.136662837C>T	ENSP00000360916:p.Val311Ile		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.V311I	ENST00000371850.3	37	c.931	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619580	0.66787	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.62498	0.02;0.02;0.02	4.01	4.01	0.46588	Dbl homology (DH) domain (5);	0.065541	0.64402	D	0.000010	T	0.48642	0.1511	N	0.12527	0.23	0.58432	D	0.999999	P;B	0.47604	0.898;0.049	P;B	0.48454	0.578;0.037	T	0.41910	-0.9482	10	0.22109	T	0.4	.	12.4078	0.55449	0.0:0.8303:0.1697:0.0	.	311;306	P52735;P52735-3	VAV2_HUMAN;.	I	311;306;306;306	ENSP00000360916:V311I;ENSP00000360917:V306I;ENSP00000385362:V306I	ENSP00000317258:V306I	V	-	1	0	VAV2	135652658	1.000000	0.71417	0.989000	0.46669	0.455000	0.32408	5.309000	0.65774	1.943000	0.56356	0.563000	0.77884	GTC	VAV2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000160293		0.607	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	-	0.00	50	0	C			136662837	-1	tier1	-	no_errors	ENST00000371850	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	T
VAV2	7410	genome.wustl.edu	37	9	136662837	136662837	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:136662837C>T	ENST00000371850.3	-	10	962	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	VAV2_ENST00000371851.1_Missense_Mutation_p.V306I|VAV2_ENST00000406606.3_Missense_Mutation_p.V306I	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	311	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTACCTCGACTTTCTGCCTG	0.607																																																	0													100.0	83.0	89.0					9																	136662837		2203	4300	6503	SO:0001583	missense	0				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.931G>A	9.37:g.136662837C>T	ENSP00000360916:p.Val311Ile		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.V311I	ENST00000371850.3	37	c.931	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619580	0.66787	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.62498	0.02;0.02;0.02	4.01	4.01	0.46588	Dbl homology (DH) domain (5);	0.065541	0.64402	D	0.000010	T	0.48642	0.1511	N	0.12527	0.23	0.58432	D	0.999999	P;B	0.47604	0.898;0.049	P;B	0.48454	0.578;0.037	T	0.41910	-0.9482	10	0.22109	T	0.4	.	12.4078	0.55449	0.0:0.8303:0.1697:0.0	.	311;306	P52735;P52735-3	VAV2_HUMAN;.	I	311;306;306;306	ENSP00000360916:V311I;ENSP00000360917:V306I;ENSP00000385362:V306I	ENSP00000317258:V306I	V	-	1	0	VAV2	135652658	1.000000	0.71417	0.989000	0.46669	0.455000	0.32408	5.309000	0.65774	1.943000	0.56356	0.563000	0.77884	GTC	VAV2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000160293		0.607	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	-	0.00	51	0	C			136662837	-1	tier1	-	no_errors	ENST00000371850	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	T
VPS13D	55187	genome.wustl.edu	37	1	12567015	12567015	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:12567015A>T	ENST00000358136.3	+	69	13033	c.12903A>T	c.(12901-12903)gaA>gaT	p.E4301D	VPS13D_ENST00000543766.1_Missense_Mutation_p.E299D|VPS13D_ENST00000543710.1_Missense_Mutation_p.E105D|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4276D	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTCCTAGAAGTCAAATACG	0.493																																																	0													130.0	122.0	125.0					1																	12567015		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12903A>T	1.37:g.12567015A>T	ENSP00000350854:p.Glu4301Asp			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E4301D	ENST00000358136.3	37	c.12903	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.56|15.56	2.869683|2.869683	0.51588|0.51588	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710|ENST00000011700	T;T;T|.	0.78126|.	0.55;0.55;-1.15|.	5.88|5.88	-1.61|-1.61	0.08399|0.08399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45836|0.45836	0.1362|0.1362	N|N	0.20574|0.20574	0.59|0.59	0.52099|0.52099	D|D	0.999948|0.999948	B;B;B|.	0.33103|.	0.236;0.335;0.397|.	B;B;B|.	0.34824|.	0.07;0.19;0.093|.	T|T	0.25012|0.25012	-1.0144|-1.0144	10|5	0.07175|.	T|.	0.84|.	.|.	14.3361|14.3361	0.66592|0.66592	0.4094:0.0:0.5906:0.0|0.4094:0.0:0.5906:0.0	.|.	299;4276;4300|.	F5GX56;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	D|M	4276;4301;299;105|3123	ENSP00000348666:E4276D;ENSP00000350854:E4301D;ENSP00000441122:E299D|.	ENSP00000348666:E4276D|.	E|K	+|+	3|2	2|0	VPS13D|VPS13D	12489602|12489602	0.996000|0.996000	0.38824|0.38824	0.979000|0.979000	0.43373|0.43373	0.998000|0.998000	0.95712|0.95712	0.500000|0.500000	0.22562|0.22562	-0.279000|-0.279000	0.09167|0.09167	0.533000|0.533000	0.62120|0.62120	GAA|AAG	VPS13D	-	NULL	ENSG00000048707		0.493	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0.00	60	0	A	NM_015378		12567015	+1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.996	T
VPS13D	55187	genome.wustl.edu	37	1	12567015	12567015	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:12567015A>T	ENST00000358136.3	+	69	13033	c.12903A>T	c.(12901-12903)gaA>gaT	p.E4301D	VPS13D_ENST00000543766.1_Missense_Mutation_p.E299D|VPS13D_ENST00000543710.1_Missense_Mutation_p.E105D|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4276D	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTCCTAGAAGTCAAATACG	0.493																																																	0													130.0	122.0	125.0					1																	12567015		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12903A>T	1.37:g.12567015A>T	ENSP00000350854:p.Glu4301Asp			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E4301D	ENST00000358136.3	37	c.12903	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.56|15.56	2.869683|2.869683	0.51588|0.51588	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710|ENST00000011700	T;T;T|.	0.78126|.	0.55;0.55;-1.15|.	5.88|5.88	-1.61|-1.61	0.08399|0.08399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45836|0.45836	0.1362|0.1362	N|N	0.20574|0.20574	0.59|0.59	0.52099|0.52099	D|D	0.999948|0.999948	B;B;B|.	0.33103|.	0.236;0.335;0.397|.	B;B;B|.	0.34824|.	0.07;0.19;0.093|.	T|T	0.25012|0.25012	-1.0144|-1.0144	10|5	0.07175|.	T|.	0.84|.	.|.	14.3361|14.3361	0.66592|0.66592	0.4094:0.0:0.5906:0.0|0.4094:0.0:0.5906:0.0	.|.	299;4276;4300|.	F5GX56;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	D|M	4276;4301;299;105|3123	ENSP00000348666:E4276D;ENSP00000350854:E4301D;ENSP00000441122:E299D|.	ENSP00000348666:E4276D|.	E|K	+|+	3|2	2|0	VPS13D|VPS13D	12489602|12489602	0.996000|0.996000	0.38824|0.38824	0.979000|0.979000	0.43373|0.43373	0.998000|0.998000	0.95712|0.95712	0.500000|0.500000	0.22562|0.22562	-0.279000|-0.279000	0.09167|0.09167	0.533000|0.533000	0.62120|0.62120	GAA|AAG	VPS13D	-	NULL	ENSG00000048707		0.493	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0.00	94	0	A	NM_015378		12567015	+1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.996	T
VPS16	64601	genome.wustl.edu	37	20	2845630	2845630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:2845630G>T	ENST00000380445.3	+	20	2005	c.1933G>T	c.(1933-1935)Gag>Tag	p.E645*	VPS16_ENST00000380443.3_Nonsense_Mutation_p.E331*|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Nonsense_Mutation_p.E501*	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	645					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ATAGCGTATTGAGGGGCGAGT	0.567																																																	0													85.0	81.0	83.0					20																	2845630		2203	4300	6503	SO:0001587	stop_gained	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1933G>T	20.37:g.2845630G>T	ENSP00000369810:p.Glu645*		Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Nonsense_Mutation	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.E645*	ENST00000380445.3	37	c.1933	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.187117	0.94923	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	.	.	.	4.89	4.89	0.63831	.	0.050872	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-26.8039	13.9142	0.63887	0.0:0.0:1.0:0.0	.	.	.	.	X	645;501;331	.	ENSP00000369808:E331X	E	+	1	0	VPS16	2793630	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	6.236000	0.72339	2.429000	0.82318	0.655000	0.94253	GAG	VPS16	-	pfam_Vps16_C,pirsf_VPS16	ENSG00000215305		0.567	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	-	0.00	81	0	G	NM_022575		2845630	+1	tier1	-	no_errors	ENST00000380445	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.999	T
VPS16	64601	genome.wustl.edu	37	20	2845630	2845630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:2845630G>T	ENST00000380445.3	+	20	2005	c.1933G>T	c.(1933-1935)Gag>Tag	p.E645*	VPS16_ENST00000380443.3_Nonsense_Mutation_p.E331*|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Nonsense_Mutation_p.E501*	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	645					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ATAGCGTATTGAGGGGCGAGT	0.567																																																	0													85.0	81.0	83.0					20																	2845630		2203	4300	6503	SO:0001587	stop_gained	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1933G>T	20.37:g.2845630G>T	ENSP00000369810:p.Glu645*		Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Nonsense_Mutation	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.E645*	ENST00000380445.3	37	c.1933	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.187117	0.94923	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	.	.	.	4.89	4.89	0.63831	.	0.050872	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-26.8039	13.9142	0.63887	0.0:0.0:1.0:0.0	.	.	.	.	X	645;501;331	.	ENSP00000369808:E331X	E	+	1	0	VPS16	2793630	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	6.236000	0.72339	2.429000	0.82318	0.655000	0.94253	GAG	VPS16	-	pfam_Vps16_C,pirsf_VPS16	ENSG00000215305		0.567	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	-	0.00	96	0	G	NM_022575		2845630	+1	tier1	-	no_errors	ENST00000380445	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.999	T
VPS45	11311	genome.wustl.edu	37	1	150040691	150040691	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:150040691G>T	ENST00000369130.3	+	2	644	c.98G>T	c.(97-99)gGc>gTc	p.G33V	VPS45_ENST00000369128.5_5'UTR|VPS45_ENST00000535106.1_Missense_Mutation_p.G33V	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	33					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.G33D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTACAGACTGGCATAGTGAGT	0.348																																																	1	Substitution - Missense(1)	prostate(1)											95.0	90.0	92.0					1																	150040691		2203	4300	6503	SO:0001583	missense	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.98G>T	1.37:g.150040691G>T	ENSP00000358126:p.Gly33Val		D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.G33V	ENST00000369130.3	37	c.98	CCDS944.1	1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806979	0.70797	.	.	ENSG00000136631	ENST00000369130;ENST00000535106;ENST00000419023	T;T;T	0.32272	1.46;1.46;1.46	5.23	5.23	0.72850	.	0.188529	0.56097	D	0.000033	T	0.23054	0.0557	M	0.61703	1.905	0.80722	D	1	B;B	0.20780	0.048;0.048	B;B	0.29440	0.102;0.102	T	0.03325	-1.1048	10	0.32370	T	0.25	.	16.6541	0.85224	0.0:0.0:1.0:0.0	.	33;33	Q53FR8;Q9NRW7	.;VPS45_HUMAN	V	33	ENSP00000358126:G33V;ENSP00000440690:G33V;ENSP00000400143:G33V	ENSP00000358126:G33V	G	+	2	0	VPS45	148307315	1.000000	0.71417	0.922000	0.36590	0.970000	0.65996	9.404000	0.97306	2.596000	0.87737	0.650000	0.86243	GGC	VPS45	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136631		0.348	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1		0.00	51	0	G	NM_007259		150040691	+1			no_errors	ENST00000369130	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
VTA1	51534	genome.wustl.edu	37	6	142525124	142525124	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:142525124G>T	ENST00000367630.4	+	7	758	c.700G>T	c.(700-702)Gta>Tta	p.V234L	VTA1_ENST00000367621.1_Missense_Mutation_p.V176L|VTA1_ENST00000452973.2_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	234	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATTTGCAGGTGTAGCAAGTAA	0.378																																																	0													137.0	121.0	126.0					6																	142525124		2203	4300	6503	SO:0001583	missense	0			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.700G>T	6.37:g.142525124G>T	ENSP00000356602:p.Val234Leu		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	NULL	p.V234L	ENST00000367630.4	37	c.700	CCDS5197.1	6	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740271	0.49045	.	.	ENSG00000009844	ENST00000367630;ENST00000367621	T;T	0.45276	0.9;0.9	5.79	5.79	0.91817	.	0.124363	0.56097	D	0.000036	T	0.28333	0.0700	L	0.54323	1.7	0.80722	D	1	B	0.28350	0.208	B	0.30251	0.113	T	0.05194	-1.0900	10	0.25106	T	0.35	-24.0622	17.5412	0.87848	0.0:0.0:1.0:0.0	.	234	Q9NP79	VTA1_HUMAN	L	234;176	ENSP00000356602:V234L;ENSP00000356593:V176L	ENSP00000356593:V176L	V	+	1	0	VTA1	142566817	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.042000	0.57347	2.722000	0.93159	0.655000	0.94253	GTA	VTA1	-	NULL	ENSG00000009844		0.378	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTA1	HGNC	protein_coding	OTTHUMT00000042483.2	-	0.00	111	0	G	NM_016485		142525124	+1	tier1	-	no_errors	ENST00000367630	ensembl	human	known	74_37	missense	6.25	75	5	SNP	1.000	T
VTA1	51534	genome.wustl.edu	37	6	142525124	142525124	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:142525124G>T	ENST00000367630.4	+	7	758	c.700G>T	c.(700-702)Gta>Tta	p.V234L	VTA1_ENST00000367621.1_Missense_Mutation_p.V176L|VTA1_ENST00000452973.2_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	234	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATTTGCAGGTGTAGCAAGTAA	0.378																																																	0													137.0	121.0	126.0					6																	142525124		2203	4300	6503	SO:0001583	missense	0			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.700G>T	6.37:g.142525124G>T	ENSP00000356602:p.Val234Leu		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	NULL	p.V234L	ENST00000367630.4	37	c.700	CCDS5197.1	6	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740271	0.49045	.	.	ENSG00000009844	ENST00000367630;ENST00000367621	T;T	0.45276	0.9;0.9	5.79	5.79	0.91817	.	0.124363	0.56097	D	0.000036	T	0.28333	0.0700	L	0.54323	1.7	0.80722	D	1	B	0.28350	0.208	B	0.30251	0.113	T	0.05194	-1.0900	10	0.25106	T	0.35	-24.0622	17.5412	0.87848	0.0:0.0:1.0:0.0	.	234	Q9NP79	VTA1_HUMAN	L	234;176	ENSP00000356602:V234L;ENSP00000356593:V176L	ENSP00000356593:V176L	V	+	1	0	VTA1	142566817	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.042000	0.57347	2.722000	0.93159	0.655000	0.94253	GTA	VTA1	-	NULL	ENSG00000009844		0.378	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTA1	HGNC	protein_coding	OTTHUMT00000042483.2	-	0.00	81	0	G	NM_016485		142525124	+1	tier1	-	no_errors	ENST00000367630	ensembl	human	known	74_37	missense	6.25	75	5	SNP	1.000	T
ALG3	10195	genome.wustl.edu	37	3	183957262	183957262	+	IGR	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:183957262C>A	ENST00000397676.3	-	0	1528				MIR1224_ENST00000408193.1_RNA|VWA5B2_ENST00000426955.2_Silent_p.G761G|VWA5B2_ENST00000273794.5_Silent_p.G543G|EIF2B5_ENST00000444495.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCTCCAGGCCGGGCAAACC	0.637																																																	0													23.0	27.0	26.0					3																	183957262		692	1591	2283	SO:0001628	intergenic_variant	0			BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823		3.37:g.183957262C>A			A8JZZ6|Q9BT71	Silent	SNP	NULL	p.G761	ENST00000397676.3	37	c.2283	CCDS46968.1	3																																																																																			VWA5B2	-	NULL	ENSG00000145198		0.637	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346033.1	-	0.00	47	0	C	NM_005787		183957262	+1	tier1	-	no_errors	ENST00000426955	ensembl	human	known	74_37	silent	54.55	15	18	SNP	0.650	A
ALG3	10195	genome.wustl.edu	37	3	183957262	183957262	+	IGR	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:183957262C>A	ENST00000397676.3	-	0	1528				MIR1224_ENST00000408193.1_RNA|VWA5B2_ENST00000426955.2_Silent_p.G761G|VWA5B2_ENST00000273794.5_Silent_p.G543G|EIF2B5_ENST00000444495.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCTCCAGGCCGGGCAAACC	0.637																																																	0													23.0	27.0	26.0					3																	183957262		692	1591	2283	SO:0001628	intergenic_variant	0			BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823		3.37:g.183957262C>A			A8JZZ6|Q9BT71	Silent	SNP	NULL	p.G761	ENST00000397676.3	37	c.2283	CCDS46968.1	3																																																																																			VWA5B2	-	NULL	ENSG00000145198		0.637	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346033.1	-	0.00	54	0	C	NM_005787		183957262	+1	tier1	-	no_errors	ENST00000426955	ensembl	human	known	74_37	silent	54.55	15	18	SNP	0.650	A
VWF	7450	genome.wustl.edu	37	12	6058967	6058967	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:6058967A>G	ENST00000261405.5	-	51	8492	c.8238T>C	c.(8236-8238)gaT>gaC	p.D2746D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2746	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGTAGTGGATATCCACCTCTA	0.527																																																	0													174.0	149.0	157.0					12																	6058967		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8238T>C	12.37:g.6058967A>G			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.D2746	ENST00000261405.5	37	c.8238	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF,smart_Cys_knot_C,pfscan_Cys_knot_C	ENSG00000110799		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0.00	31	0	A	NM_000552		6058967	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	31.03	20	9	SNP	1.000	G
VWF	7450	genome.wustl.edu	37	12	6058967	6058967	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:6058967A>G	ENST00000261405.5	-	51	8492	c.8238T>C	c.(8236-8238)gaT>gaC	p.D2746D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2746	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGTAGTGGATATCCACCTCTA	0.527																																																	0													174.0	149.0	157.0					12																	6058967		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8238T>C	12.37:g.6058967A>G			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.D2746	ENST00000261405.5	37	c.8238	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF,smart_Cys_knot_C,pfscan_Cys_knot_C	ENSG00000110799		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0.00	54	0	A	NM_000552		6058967	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	31.03	20	9	SNP	1.000	G
WDFY4	57705	genome.wustl.edu	37	10	49935692	49935692	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:49935692A>T	ENST00000325239.5	+	6	986	c.959A>T	c.(958-960)aAa>aTa	p.K320I	WDFY4_ENST00000413659.2_Missense_Mutation_p.K320I|WDFY4_ENST00000360890.2_Missense_Mutation_p.K320I	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	320						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CTGCTGCTCAAAGTGTTACTT	0.507																																																	0													113.0	100.0	104.0					10																	49935692		692	1591	2283	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.959A>T	10.37:g.49935692A>T	ENSP00000320563:p.Lys320Ile		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K320I	ENST00000325239.5	37	c.959	CCDS44385.1	10	.	.	.	.	.	.	.	.	.	.	A	18.63	3.665569	0.67700	.	.	ENSG00000128815	ENST00000360890;ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T;T	0.52057	0.68;1.6;1.6	6.17	5.05	0.67936	.	.	.	.	.	T	0.51466	0.1676	M	0.72118	2.19	0.30016	N	0.814745	P;P	0.44380	0.779;0.834	B;B	0.43052	0.178;0.406	T	0.58446	-0.7635	9	0.87932	D	0	.	11.4176	0.49962	0.9305:0.0:0.0695:0.0	.	320;320	Q6ZS81;Q6ZS81-2	WDFY4_HUMAN;.	I	320;329;320;320;320	ENSP00000354141:K320I;ENSP00000320563:K320I;ENSP00000403789:K320I	ENSP00000320563:K320I	K	+	2	0	WDFY4	49605698	1.000000	0.71417	0.997000	0.53966	0.631000	0.37964	3.115000	0.50391	1.166000	0.42689	0.533000	0.62120	AAA	WDFY4	-	superfamily_ARM-type_fold	ENSG00000128815		0.507	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		-	0.00	90	0	A	XM_033379		49935692	+1	tier1	-	no_errors	ENST00000325239	ensembl	human	known	74_37	missense	25.00	57	19	SNP	0.999	T
WDFY4	57705	genome.wustl.edu	37	10	50025347	50025347	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:50025347C>T	ENST00000325239.5	+	31	5425	c.5398C>T	c.(5398-5400)Cag>Tag	p.Q1800*	WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	1800						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CAGCGTGCTGCAGTTCCTCAG	0.667																																																	0													42.0	50.0	47.0					10																	50025347		692	1591	2283	SO:0001587	stop_gained	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.5398C>T	10.37:g.50025347C>T	ENSP00000320563:p.Gln1800*		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1800*	ENST00000325239.5	37	c.5398	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.923434|9.923434	0.99297|0.99297	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000312002;ENST00000374161|ENST00000426033;ENST00000325239	.|.	.|.	.|.	5.45|5.45	3.54|3.54	0.40534|0.40534	.|.	.|0.083518	.|0.49305	.|D	.|0.000146	T|.	0.68531|.	0.3011|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65672|.	-0.6111|.	4|.	.|.	.|.	.|.	.|.	13.28|13.28	0.60208|0.60208	0.2892:0.7108:0.0:0.0|0.2892:0.7108:0.0:0.0	.|.	.|.	.|.	.|.	V|X	890;346|1800	.|.	.|.	A|Q	+|+	2|1	0|0	WDFY4|WDFY4	49695353|49695353	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.123000|0.123000	0.20343|0.20343	2.998000|2.998000	0.49465|0.49465	0.633000|0.633000	0.30452|0.30452	-0.181000|-0.181000	0.13052|0.13052	GCA|CAG	WDFY4	-	NULL	ENSG00000128815		0.667	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding			0.00	74	0	C	XM_033379		50025347	+1			no_errors	ENST00000325239	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	1.000	T
WDR11	55717	genome.wustl.edu	37	10	122660587	122660587	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:122660587A>T	ENST00000263461.6	+	21	2910	c.2664A>T	c.(2662-2664)caA>caT	p.Q888H	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATCTCCTCCAAGAACAGTTGA	0.294																																																	0													72.0	79.0	77.0					10																	122660587		2201	4295	6496	SO:0001583	missense	0			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2664A>T	10.37:g.122660587A>T	ENSP00000263461:p.Gln888His		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.Q888H	ENST00000263461.6	37	c.2664	CCDS7619.1	10	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627706	0.66901	.	.	ENSG00000120008	ENST00000263461	D	0.91011	-2.77	5.81	0.658	0.17855	.	0.000000	0.85682	D	0.000000	D	0.91362	0.7275	L	0.44542	1.39	0.49130	D	0.999757	D;D;D;P	0.63880	0.99;0.99;0.993;0.93	D;D;P;P	0.72982	0.979;0.979;0.906;0.652	D	0.88229	0.2902	10	0.51188	T	0.08	-16.5495	9.7979	0.40746	0.6714:0.0:0.3286:0.0	.	888;888;179;417	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	H	888	ENSP00000263461:Q888H	ENSP00000263461:Q888H	Q	+	3	2	WDR11	122650577	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	0.857000	0.27831	-0.128000	0.11641	0.533000	0.62120	CAA	WDR11	-	NULL	ENSG00000120008		0.294	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2	-	0.00	106	0	A			122660587	+1	tier1	-	no_errors	ENST00000263461	ensembl	human	known	74_37	missense	27.39	114	43	SNP	1.000	T
WDR11	55717	genome.wustl.edu	37	10	122660587	122660587	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:122660587A>T	ENST00000263461.6	+	21	2910	c.2664A>T	c.(2662-2664)caA>caT	p.Q888H	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATCTCCTCCAAGAACAGTTGA	0.294																																																	0													72.0	79.0	77.0					10																	122660587		2201	4295	6496	SO:0001583	missense	0			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2664A>T	10.37:g.122660587A>T	ENSP00000263461:p.Gln888His		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.Q888H	ENST00000263461.6	37	c.2664	CCDS7619.1	10	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627706	0.66901	.	.	ENSG00000120008	ENST00000263461	D	0.91011	-2.77	5.81	0.658	0.17855	.	0.000000	0.85682	D	0.000000	D	0.91362	0.7275	L	0.44542	1.39	0.49130	D	0.999757	D;D;D;P	0.63880	0.99;0.99;0.993;0.93	D;D;P;P	0.72982	0.979;0.979;0.906;0.652	D	0.88229	0.2902	10	0.51188	T	0.08	-16.5495	9.7979	0.40746	0.6714:0.0:0.3286:0.0	.	888;888;179;417	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	H	888	ENSP00000263461:Q888H	ENSP00000263461:Q888H	Q	+	3	2	WDR11	122650577	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	0.857000	0.27831	-0.128000	0.11641	0.533000	0.62120	CAA	WDR11	-	NULL	ENSG00000120008		0.294	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2	-	0.00	191	0	A			122660587	+1	tier1	-	no_errors	ENST00000263461	ensembl	human	known	74_37	missense	27.39	114	43	SNP	1.000	T
WDR19	57728	genome.wustl.edu	37	4	39233547	39233547	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:39233547G>T	ENST00000399820.3	+	18	2267	c.2113G>T	c.(2113-2115)Ggc>Tgc	p.G705C	WDR19_ENST00000288634.7_Missense_Mutation_p.G545C|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	705					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TGGAAATGTTGGCATAGTGAT	0.358																																																	0													170.0	162.0	164.0					4																	39233547		1889	4123	6012	SO:0001583	missense	0			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2113G>T	4.37:g.39233547G>T	ENSP00000382717:p.Gly705Cys		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G705C	ENST00000399820.3	37	c.2113	CCDS47042.1	4	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552783	0.86127	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	D;D	0.87412	-2.25;-2.25	5.33	5.33	0.75918	.	0.097934	0.64402	D	0.000001	D	0.91476	0.7309	M	0.87547	2.89	0.80722	D	1	P	0.47762	0.9	P	0.47626	0.552	D	0.92304	0.5852	10	0.51188	T	0.08	-17.3403	19.0053	0.92848	0.0:0.0:1.0:0.0	.	705	Q8NEZ3	WDR19_HUMAN	C	705;545	ENSP00000382717:G705C;ENSP00000288634:G545C	ENSP00000288634:G545C	G	+	1	0	WDR19	38909942	1.000000	0.71417	0.951000	0.38953	0.803000	0.45373	9.332000	0.96446	2.490000	0.84030	0.491000	0.48974	GGC	WDR19	-	NULL	ENSG00000157796		0.358	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1		0.00	167	0	G			39233547	+1			no_errors	ENST00000399820	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
WDR20	91833	genome.wustl.edu	37	14	102675425	102675425	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:102675425G>T	ENST00000342702.3	+	3	949	c.918G>T	c.(916-918)tgG>tgT	p.W306C	WDR20_ENST00000556807.1_Missense_Mutation_p.W245C|WDR20_ENST00000556511.2_Missense_Mutation_p.W245C|WDR20_ENST00000335263.5_Missense_Mutation_p.W306C|WDR20_ENST00000545563.1_Missense_Mutation_p.W133C|WDR20_ENST00000424963.2_Missense_Mutation_p.W182C|WDR20_ENST00000499851.2_Missense_Mutation_p.W49C|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.W337C	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	306										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ACAAGTCCTGGGTCAGTGTTG	0.512																																																	0													91.0	76.0	81.0					14																	102675425		2203	4300	6503	SO:0001583	missense	0			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.918G>T	14.37:g.102675425G>T	ENSP00000341037:p.Trp306Cys		B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W337C	ENST00000342702.3	37	c.1011	CCDS9969.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.11|17.11	3.305788|3.305788	0.60305|0.60305	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000556511|ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000499851;ENST00000454394;ENST00000401892;ENST00000545563	.|T;T;T;T;T;T;T	.|0.51325	.|0.71;2.3;0.71;2.3;3.3;0.71;0.71	5.46|5.46	5.46|5.46	0.80206|0.80206	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74658|0.74658	0.3745|0.3745	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;0.999;0.999;1.0;1.0;0.99;1.0	T|T	0.79254|0.79254	-0.1879|-0.1879	5|10	.|0.87932	.|D	.|0	.|.	19.3216|19.3216	0.94243|0.94243	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|337;318;245;306;245;182;306	.|E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3	.|.;.;.;.;.;.;WDR20_HUMAN	C|C	237|306;245;182;306;245;49;337;236;133	.|ENSP00000335434:W306C;ENSP00000395793:W182C;ENSP00000341037:W306C;ENSP00000450636:W245C;ENSP00000443641:W49C;ENSP00000406084:W337C;ENSP00000437927:W133C	.|ENSP00000299135:W245C	G|W	+|+	1|3	0|0	WDR20|WDR20	101745178|101745178	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.476000|9.476000	0.97823|0.97823	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	GGT|TGG	WDR20	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000140153		0.512	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR20	HGNC	protein_coding	OTTHUMT00000414963.1		0.00	42	0	G	NM_181291		102675425	+1			no_errors	ENST00000454394	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T
WDR27	253769	genome.wustl.edu	37	6	170067332	170067332	+	5'UTR	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:170067332A>T	ENST00000546525.1	-	0	39				WDR27_ENST00000333572.6_Intron|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000448612.1_Intron			A2RRH5	WDR27_HUMAN	WD repeat domain 27							nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGTTGCCATTATTGCAACAGG	0.333																																																	0													36.0	32.0	33.0					6																	170067332		1821	4038	5859	SO:0001623	5_prime_UTR_variant	0			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000546525.1:c.-3472T>A	6.37:g.170067332A>T			A5PLM8|C9JGV0|Q5T066	RNA	SNP	-	NULL	ENST00000546525.1	37	NULL		6																																																																																			WDR27	-	-	ENSG00000184465		0.333	WDR27-013	KNOWN	basic	processed_transcript	WDR27	HGNC	protein_coding	OTTHUMT00000407335.1	-	0.00	39	0	A	NM_182552		170067332	-1	tier1	-	no_errors	ENST00000546525	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.000	T
WDR27	253769	genome.wustl.edu	37	6	170067332	170067332	+	5'UTR	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:170067332A>T	ENST00000546525.1	-	0	39				WDR27_ENST00000333572.6_Intron|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000448612.1_Intron			A2RRH5	WDR27_HUMAN	WD repeat domain 27							nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGTTGCCATTATTGCAACAGG	0.333																																																	0													36.0	32.0	33.0					6																	170067332		1821	4038	5859	SO:0001623	5_prime_UTR_variant	0			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000546525.1:c.-3472T>A	6.37:g.170067332A>T			A5PLM8|C9JGV0|Q5T066	RNA	SNP	-	NULL	ENST00000546525.1	37	NULL		6																																																																																			WDR27	-	-	ENSG00000184465		0.333	WDR27-013	KNOWN	basic	processed_transcript	WDR27	HGNC	protein_coding	OTTHUMT00000407335.1	-	0.00	50	0	A	NM_182552		170067332	-1	tier1	-	no_errors	ENST00000546525	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.000	T
WDR48	57599	genome.wustl.edu	37	3	39111206	39111206	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:39111206G>T	ENST00000302313.5	+	7	671	c.643G>T	c.(643-645)Gca>Tca	p.A215S	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.A133S|WDR48_ENST00000544962.1_Intron	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	215					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAATGTGAAGGCATTGCTATT	0.373																																																	0													164.0	152.0	156.0					3																	39111206		2203	4300	6503	SO:0001583	missense	0			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.643G>T	3.37:g.39111206G>T	ENSP00000307491:p.Ala215Ser		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A215S	ENST00000302313.5	37	c.643	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728958	0.48833	.	.	ENSG00000114742	ENST00000302313;ENST00000396258;ENST00000441361	T;T;T	0.56444	0.46;0.46;0.46	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052214	0.85682	D	0.000000	T	0.36663	0.0975	N	0.04245	-0.25	0.80722	D	1	B;B;B	0.21753	0.012;0.012;0.06	B;B;B	0.33690	0.05;0.05;0.168	T	0.26087	-1.0113	10	0.09590	T	0.72	-1.7952	19.9915	0.97366	0.0:0.0:1.0:0.0	.	133;206;215	Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;WDR48_HUMAN	S	215;133;145	ENSP00000307491:A215S;ENSP00000379557:A133S;ENSP00000416900:A145S	ENSP00000307491:A215S	A	+	1	0	WDR48	39086210	1.000000	0.71417	0.900000	0.35374	0.283000	0.27025	7.074000	0.76791	2.723000	0.93209	0.655000	0.94253	GCA	WDR48	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000114742		0.373	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1	-	0.00	92	0	G	NM_020839		39111206	+1	tier1	-	no_errors	ENST00000302313	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
CFAP44	55779	genome.wustl.edu	37	3	113015696	113015696	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:113015696T>G	ENST00000393845.2	-	33	5180	c.5114A>C	c.(5113-5115)aAg>aCg	p.K1705T	WDR52_ENST00000308346.6_Missense_Mutation_p.K308T	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACGGCCAAACTTGCTGATCAT	0.423																																																	0													155.0	129.0	137.0					3																	113015696		692	1591	2283	SO:0001583	missense	0																														ENST00000393845.2:c.5114A>C	3.37:g.113015696T>G	ENSP00000377428:p.Lys1705Thr			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1705T	ENST00000393845.2	37	c.5114	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.55|18.55	3.647556|3.647556	0.67358|0.67358	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845;ENST00000308346|ENST00000465636	T;T|.	0.44482|.	0.92;0.92|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.187028|.	0.56097|.	D|.	0.000031|.	T|T	0.76314|0.76314	0.3970|0.3970	M|M	0.79258|0.79258	2.445|2.445	0.41880|0.41880	D|D	0.990319|0.990319	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.78059|0.78059	-0.2352|-0.2352	10|5	0.52906|.	T|.	0.07|.	-34.026|-34.026	15.7286|15.7286	0.77784|0.77784	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1705|.	Q96MT7-2|.	.|.	T|H	1705;308|841	ENSP00000377428:K1705T;ENSP00000311497:K308T|.	ENSP00000311497:K308T|.	K|Q	-|-	2|3	0|2	WDR52|WDR52	114498386|114498386	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.466000|0.466000	0.32739|0.32739	5.833000|5.833000	0.69349|0.69349	2.114000|2.114000	0.64651|0.64651	0.459000|0.459000	0.35465|0.35465	AAG|CAA	WDR52	-	NULL	ENSG00000206530		0.423	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		-	0.00	52	0	T			113015696	-1	tier1	-	no_errors	ENST00000393845	ensembl	human	known	74_37	missense	21.05	44	12	SNP	1.000	G
CFAP44	55779	genome.wustl.edu	37	3	113015696	113015696	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:113015696T>G	ENST00000393845.2	-	33	5180	c.5114A>C	c.(5113-5115)aAg>aCg	p.K1705T	WDR52_ENST00000308346.6_Missense_Mutation_p.K308T	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACGGCCAAACTTGCTGATCAT	0.423																																																	0													155.0	129.0	137.0					3																	113015696		692	1591	2283	SO:0001583	missense	0																														ENST00000393845.2:c.5114A>C	3.37:g.113015696T>G	ENSP00000377428:p.Lys1705Thr			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1705T	ENST00000393845.2	37	c.5114	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.55|18.55	3.647556|3.647556	0.67358|0.67358	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845;ENST00000308346|ENST00000465636	T;T|.	0.44482|.	0.92;0.92|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.187028|.	0.56097|.	D|.	0.000031|.	T|T	0.76314|0.76314	0.3970|0.3970	M|M	0.79258|0.79258	2.445|2.445	0.41880|0.41880	D|D	0.990319|0.990319	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.78059|0.78059	-0.2352|-0.2352	10|5	0.52906|.	T|.	0.07|.	-34.026|-34.026	15.7286|15.7286	0.77784|0.77784	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1705|.	Q96MT7-2|.	.|.	T|H	1705;308|841	ENSP00000377428:K1705T;ENSP00000311497:K308T|.	ENSP00000311497:K308T|.	K|Q	-|-	2|3	0|2	WDR52|WDR52	114498386|114498386	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.466000|0.466000	0.32739|0.32739	5.833000|5.833000	0.69349|0.69349	2.114000|2.114000	0.64651|0.64651	0.459000|0.459000	0.35465|0.35465	AAG|CAA	WDR52	-	NULL	ENSG00000206530		0.423	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		-	0.00	62	0	T			113015696	-1	tier1	-	no_errors	ENST00000393845	ensembl	human	known	74_37	missense	21.05	44	12	SNP	1.000	G
WDR87	83889	genome.wustl.edu	37	19	38378044	38378044	+	Silent	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:38378044T>C	ENST00000303868.5	-	6	6374	c.6150A>G	c.(6148-6150)agA>agG	p.R2050R	WDR87_ENST00000447313.2_Silent_p.R2089R	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2050	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TGGCTAACTTTCTTTGCCCCT	0.398																																																	0													80.0	62.0	67.0					19																	38378044		692	1591	2283	SO:0001819	synonymous_variant	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.6150A>G	19.37:g.38378044T>C			Q9BWV9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2089	ENST00000303868.5	37	c.6267	CCDS46063.1	19																																																																																			WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.398	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2		0.00	74	0	T	XM_940478		38378044	-1			no_errors	ENST00000447313	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.969	C
WNK1	65125	genome.wustl.edu	37	12	977760	977760	+	Intron	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:977760T>C	ENST00000315939.6	+	9	2782				WNK1_ENST00000530271.2_Silent_p.T1041T|WNK1_ENST00000537687.1_Silent_p.T956T|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Silent_p.T255T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTGTGTTAACTCATAACAATG	0.433																																					Colon(19;451 567 6672 12618 28860)												0													49.0	49.0	49.0					12																	977760		1913	4124	6037	SO:0001627	intron_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2671T>C	12.37:g.977760T>C			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T1041	ENST00000315939.6	37	c.3123	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.433	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	-	0.00	35	0	T	NM_018979		977760	+1	tier1	-	no_errors	ENST00000530271	ensembl	human	known	74_37	silent	22.86	27	8	SNP	1.000	C
WNK1	65125	genome.wustl.edu	37	12	977760	977760	+	Intron	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:977760T>C	ENST00000315939.6	+	9	2782				WNK1_ENST00000530271.2_Silent_p.T1041T|WNK1_ENST00000537687.1_Silent_p.T956T|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Silent_p.T255T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTGTGTTAACTCATAACAATG	0.433																																					Colon(19;451 567 6672 12618 28860)												0													49.0	49.0	49.0					12																	977760		1913	4124	6037	SO:0001627	intron_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2671T>C	12.37:g.977760T>C			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T1041	ENST00000315939.6	37	c.3123	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.433	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	-	0.00	52	0	T	NM_018979		977760	+1	tier1	-	no_errors	ENST00000530271	ensembl	human	known	74_37	silent	22.86	27	8	SNP	1.000	C
WWC3	55841	genome.wustl.edu	37	X	10096087	10096087	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:10096087G>C	ENST00000380861.4	+	16	2557	c.2166G>C	c.(2164-2166)tgG>tgC	p.W722C	WWC3_ENST00000454666.1_Missense_Mutation_p.W722C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	722					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCTGCGCTGGCATTCCGTGC	0.562																																																	0													102.0	91.0	95.0					X																	10096087		2203	4300	6503	SO:0001583	missense	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2166G>C	X.37:g.10096087G>C	ENSP00000370242:p.Trp722Cys		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_dom	p.W722C	ENST00000380861.4	37	c.2166	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222958	0.79464	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.47177	0.85;0.85	5.88	5.88	0.94601	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74725	-0.3568	9	.	.	.	-22.1889	19.1732	0.93588	0.0:0.0:1.0:0.0	.	722	Q9ULE0	WWC3_HUMAN	C	722;722;217	ENSP00000370242:W722C;ENSP00000399584:W722C	.	W	+	3	0	WWC3	10056087	1.000000	0.71417	0.991000	0.47740	0.803000	0.45373	7.965000	0.87945	2.479000	0.83701	0.600000	0.82982	TGG	WWC3	-	superfamily_C2_dom	ENSG00000047644		0.562	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	-	0.00	39	0	G	NM_015691		10096087	+1	tier1	-	no_errors	ENST00000380861	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	C
WWC3	55841	genome.wustl.edu	37	X	10096087	10096087	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:10096087G>C	ENST00000380861.4	+	16	2557	c.2166G>C	c.(2164-2166)tgG>tgC	p.W722C	WWC3_ENST00000454666.1_Missense_Mutation_p.W722C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	722					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCTGCGCTGGCATTCCGTGC	0.562																																																	0													102.0	91.0	95.0					X																	10096087		2203	4300	6503	SO:0001583	missense	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2166G>C	X.37:g.10096087G>C	ENSP00000370242:p.Trp722Cys		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_dom	p.W722C	ENST00000380861.4	37	c.2166	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222958	0.79464	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.47177	0.85;0.85	5.88	5.88	0.94601	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74725	-0.3568	9	.	.	.	-22.1889	19.1732	0.93588	0.0:0.0:1.0:0.0	.	722	Q9ULE0	WWC3_HUMAN	C	722;722;217	ENSP00000370242:W722C;ENSP00000399584:W722C	.	W	+	3	0	WWC3	10056087	1.000000	0.71417	0.991000	0.47740	0.803000	0.45373	7.965000	0.87945	2.479000	0.83701	0.600000	0.82982	TGG	WWC3	-	superfamily_C2_dom	ENSG00000047644		0.562	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	-	0.00	47	0	G	NM_015691		10096087	+1	tier1	-	no_errors	ENST00000380861	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	C
XIRP2	129446	genome.wustl.edu	37	2	167760191	167760191	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:167760191G>T	ENST00000409728.1	+	2	288	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	XIRP2_ENST00000295237.9_Missense_Mutation_p.G67W|XIRP2_ENST00000420519.1_Missense_Mutation_p.G67W|XIRP2_ENST00000409043.1_Missense_Mutation_p.G67W|XIRP2_ENST00000409195.1_Missense_Mutation_p.G67W|XIRP2_ENST00000409756.2_Missense_Mutation_p.G67W	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.G67R(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTACAGTACAGGGGAAGAGAT	0.493																																																	2	Substitution - Missense(2)	lung(2)											77.0	78.0	78.0					2																	167760191		1949	4131	6080	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.199G>T	2.37:g.167760191G>T	ENSP00000386619:p.Gly67Trp		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.G67W	ENST00000409728.1	37	c.199	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392895	0.42410	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.79653	-1.28;-1.29;4.06;-1.28;-1.29;4.06	4.79	-1.8	0.07907	.	.	.	.	.	T	0.82250	0.4996	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.58873	0.847;0.847	T	0.71377	-0.4611	8	0.62326	D	0.03	-4.9467	5.2753	0.15645	0.471:0.1457:0.3834:0.0	.	67;67	A4UGR9-4;A4UGR9-6	.;.	W	67	ENSP00000386454:G67W;ENSP00000386619:G67W;ENSP00000386840:G67W;ENSP00000386724:G67W;ENSP00000415541:G67W;ENSP00000295237:G67W	ENSP00000295237:G67W	G	+	1	0	XIRP2	167468437	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.077000	0.03416	-0.442000	0.07190	0.655000	0.94253	GGG	XIRP2	-	NULL	ENSG00000163092		0.493	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	-	0.00	82	0	G	NM_152381		167760191	+1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.000	T
XIRP2	129446	genome.wustl.edu	37	2	167760191	167760191	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:167760191G>T	ENST00000409728.1	+	2	288	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	XIRP2_ENST00000295237.9_Missense_Mutation_p.G67W|XIRP2_ENST00000420519.1_Missense_Mutation_p.G67W|XIRP2_ENST00000409043.1_Missense_Mutation_p.G67W|XIRP2_ENST00000409195.1_Missense_Mutation_p.G67W|XIRP2_ENST00000409756.2_Missense_Mutation_p.G67W	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.G67R(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTACAGTACAGGGGAAGAGAT	0.493																																																	2	Substitution - Missense(2)	lung(2)											77.0	78.0	78.0					2																	167760191		1949	4131	6080	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.199G>T	2.37:g.167760191G>T	ENSP00000386619:p.Gly67Trp		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.G67W	ENST00000409728.1	37	c.199	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392895	0.42410	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.79653	-1.28;-1.29;4.06;-1.28;-1.29;4.06	4.79	-1.8	0.07907	.	.	.	.	.	T	0.82250	0.4996	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.58873	0.847;0.847	T	0.71377	-0.4611	8	0.62326	D	0.03	-4.9467	5.2753	0.15645	0.471:0.1457:0.3834:0.0	.	67;67	A4UGR9-4;A4UGR9-6	.;.	W	67	ENSP00000386454:G67W;ENSP00000386619:G67W;ENSP00000386840:G67W;ENSP00000386724:G67W;ENSP00000415541:G67W;ENSP00000295237:G67W	ENSP00000295237:G67W	G	+	1	0	XIRP2	167468437	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.077000	0.03416	-0.442000	0.07190	0.655000	0.94253	GGG	XIRP2	-	NULL	ENSG00000163092		0.493	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	-	0.00	84	0	G	NM_152381		167760191	+1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.000	T
XIRP2	129446	genome.wustl.edu	37	2	167992503	167992503	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:167992503G>A	ENST00000409728.1	+	3	582	c.493G>A	c.(493-495)Gac>Aac	p.D165N	XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000420519.1_Missense_Mutation_p.D165N|XIRP2_ENST00000409195.1_Missense_Mutation_p.D165N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D165N|XIRP2_ENST00000409043.1_Missense_Mutation_p.D165N|XIRP2_ENST00000409756.2_Missense_Mutation_p.D165N	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D165Y(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAGATTCAGACAAGAAAGG	0.428																																																	2	Substitution - Missense(2)	lung(2)											94.0	95.0	95.0					2																	167992503		1903	4125	6028	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.493G>A	2.37:g.167992503G>A	ENSP00000386619:p.Asp165Asn		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.D165N	ENST00000409728.1	37	c.493	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486269	0.44147	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.85702	-1.59;-2.02;3.78;-1.59;-2.02;3.78	5.51	4.63	0.57726	.	.	.	.	.	T	0.79452	0.4448	.	.	.	0.22330	N	0.999199	P;P	0.41848	0.763;0.763	P;P	0.44990	0.466;0.466	T	0.66052	-0.6019	8	0.16420	T	0.52	-7.4776	9.3532	0.38151	0.1758:0.0:0.8242:0.0	.	165;165	A4UGR9-4;A4UGR9-6	.;.	N	165	ENSP00000386454:D165N;ENSP00000386619:D165N;ENSP00000386840:D165N;ENSP00000386724:D165N;ENSP00000415541:D165N;ENSP00000295237:D165N	ENSP00000295237:D165N	D	+	1	0	XIRP2	167700749	0.994000	0.37717	1.000000	0.80357	0.806000	0.45545	3.219000	0.51200	1.337000	0.45525	0.591000	0.81541	GAC	XIRP2	-	NULL	ENSG00000163092		0.428	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1		0.00	60	0	G	NM_152381		167992503	+1			no_errors	ENST00000295237	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.996	A
XRRA1	143570	genome.wustl.edu	37	11	74632295	74632295	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:74632295A>C	ENST00000340360.6	-	8	927	c.596T>G	c.(595-597)cTt>cGt	p.L199R	XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.L199R	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CAGGGAGGTAAGGCCATTGCC	0.517																																																	0													77.0	81.0	80.0					11																	74632295		1996	4166	6162	SO:0001583	missense	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.596T>G	11.37:g.74632295A>C	ENSP00000339918:p.Leu199Arg			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L199R	ENST00000340360.6	37	c.596	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941575	0.73557	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.69306	1.29;-0.39;-0.23	5.02	5.02	0.67125	.	0.260987	0.31936	N	0.006833	T	0.76723	0.4027	L	0.54323	1.7	0.44454	D	0.997387	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78848	-0.2042	10	0.87932	D	0	-16.8375	11.4252	0.50007	1.0:0.0:0.0:0.0	.	199;199	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	R	199;199;199;199;207	ENSP00000339918:L199R;ENSP00000435838:L199R;ENSP00000437334:L207R	ENSP00000339918:L199R	L	-	2	0	XRRA1	74309943	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.850000	0.62889	2.018000	0.59344	0.533000	0.62120	CTT	XRRA1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000166435		0.517	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	-	0.00	47	0	A	NM_182969		74632295	-1	tier1	-	no_errors	ENST00000340360	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	C
XRRA1	143570	genome.wustl.edu	37	11	74632295	74632295	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:74632295A>C	ENST00000340360.6	-	8	927	c.596T>G	c.(595-597)cTt>cGt	p.L199R	XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.L199R	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CAGGGAGGTAAGGCCATTGCC	0.517																																																	0													77.0	81.0	80.0					11																	74632295		1996	4166	6162	SO:0001583	missense	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.596T>G	11.37:g.74632295A>C	ENSP00000339918:p.Leu199Arg			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L199R	ENST00000340360.6	37	c.596	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941575	0.73557	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.69306	1.29;-0.39;-0.23	5.02	5.02	0.67125	.	0.260987	0.31936	N	0.006833	T	0.76723	0.4027	L	0.54323	1.7	0.44454	D	0.997387	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78848	-0.2042	10	0.87932	D	0	-16.8375	11.4252	0.50007	1.0:0.0:0.0:0.0	.	199;199	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	R	199;199;199;199;207	ENSP00000339918:L199R;ENSP00000435838:L199R;ENSP00000437334:L207R	ENSP00000339918:L199R	L	-	2	0	XRRA1	74309943	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.850000	0.62889	2.018000	0.59344	0.533000	0.62120	CTT	XRRA1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000166435		0.517	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	-	0.00	53	0	A	NM_182969		74632295	-1	tier1	-	no_errors	ENST00000340360	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	C
YIPF6	286451	genome.wustl.edu	37	X	67733414	67733414	+	Intron	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:67733414T>G	ENST00000462683.1	+	3	1009				YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6						intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						AATTAAAAATTGATtttattt	0.318																																																	0																																										SO:0001627	intron_variant	0			BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.265+167T>G	X.37:g.67733414T>G			B4E1U7|G5E997|Q5JP08	RNA	SNP	-	NULL	ENST00000462683.1	37	NULL	CCDS14389.1	X																																																																																			YIPF6	-	-	ENSG00000181704		0.318	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF6	HGNC	protein_coding	OTTHUMT00000057016.1	-	0.00	23	0	T	NM_173834		67733414	+1	tier1	-	no_errors	ENST00000470730	ensembl	human	known	74_37	rna	75.00	3	9	SNP	0.001	G
ZBTB4	57659	genome.wustl.edu	37	17	7369677	7369677	+	Silent	SNP	G	G	A	rs146654674		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:7369677G>A	ENST00000311403.4	-	3	783	c.444C>T	c.(442-444)ctC>ctT	p.L148L	ZBTB4_ENST00000380599.4_Silent_p.L148L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	148	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGGCAGTGCGAGCCGGGCGC	0.657																																																	0								G	,	1,4403		0,1,2201	20.0	22.0	21.0		444,444	-2.9	1.0	17	dbSNP_134	21	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	ZBTB4	NM_001128833.1,NM_020899.3	,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,	148/1014,148/1014	7369677	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.444C>T	17.37:g.7369677G>A			B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L148	ENST00000311403.4	37	c.444	CCDS11107.1	17																																																																																			ZBTB4	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000174282		0.657	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	-	0.00	120	0	G	NM_020899		7369677	-1	tier1	rs146654674	no_errors	ENST00000311403	ensembl	human	known	74_37	silent	21.35	70	19	SNP	0.271	A
ZBTB4	57659	genome.wustl.edu	37	17	7369677	7369677	+	Silent	SNP	G	G	A	rs146654674		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:7369677G>A	ENST00000311403.4	-	3	783	c.444C>T	c.(442-444)ctC>ctT	p.L148L	ZBTB4_ENST00000380599.4_Silent_p.L148L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	148	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGGCAGTGCGAGCCGGGCGC	0.657																																																	0								G	,	1,4403		0,1,2201	20.0	22.0	21.0		444,444	-2.9	1.0	17	dbSNP_134	21	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	ZBTB4	NM_001128833.1,NM_020899.3	,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,	148/1014,148/1014	7369677	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.444C>T	17.37:g.7369677G>A			B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L148	ENST00000311403.4	37	c.444	CCDS11107.1	17																																																																																			ZBTB4	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000174282		0.657	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	-	0.00	147	0	G	NM_020899		7369677	-1	tier1	rs146654674	no_errors	ENST00000311403	ensembl	human	known	74_37	silent	21.35	70	19	SNP	0.271	A
ZBTB7B	51043	genome.wustl.edu	37	1	154987372	154987372	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:154987372C>T	ENST00000368426.3	+	3	373	c.236C>T	c.(235-237)aCg>aTg	p.T79M	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.T79M|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.T79M|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.T113M|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	79	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTAGCGGGACGGCCACTGGG	0.632																																																	0													31.0	37.0	35.0					1																	154987372		2203	4300	6503	SO:0001583	missense	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.236C>T	1.37:g.154987372C>T	ENSP00000357411:p.Thr79Met		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T113M	ENST00000368426.3	37	c.338	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	C	0.874	-0.730879	0.03135	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	3.66	0.294	0.15747	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.506287	0.15964	N	0.236108	T	0.15522	0.0374	N	0.01096	-1.015	0.09310	N	1	B;B;B	0.12013	0.005;0.001;0.005	B;B;B	0.12156	0.007;0.001;0.007	T	0.31641	-0.9936	10	0.40728	T	0.16	.	5.1431	0.14969	0.0:0.6034:0.1781:0.2185	.	79;79;113	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	M	79;79;113;79	ENSP00000438647:T79M;ENSP00000357411:T79M;ENSP00000406286:T113M;ENSP00000292176:T79M	ENSP00000292176:T79M	T	+	2	0	ZBTB7B	153253996	0.000000	0.05858	0.038000	0.18304	0.008000	0.06430	0.328000	0.19681	0.170000	0.19704	0.455000	0.32223	ACG	ZBTB7B	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000160685		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	-	0.00	51	0	C	NM_015872		154987372	+1	tier1	-	no_errors	ENST00000417934	ensembl	human	known	74_37	missense	15.69	43	8	SNP	0.001	T
ZBTB7B	51043	genome.wustl.edu	37	1	154987372	154987372	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:154987372C>T	ENST00000368426.3	+	3	373	c.236C>T	c.(235-237)aCg>aTg	p.T79M	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.T79M|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.T79M|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.T113M|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	79	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTAGCGGGACGGCCACTGGG	0.632																																																	0													31.0	37.0	35.0					1																	154987372		2203	4300	6503	SO:0001583	missense	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.236C>T	1.37:g.154987372C>T	ENSP00000357411:p.Thr79Met		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T113M	ENST00000368426.3	37	c.338	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	C	0.874	-0.730879	0.03135	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	3.66	0.294	0.15747	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.506287	0.15964	N	0.236108	T	0.15522	0.0374	N	0.01096	-1.015	0.09310	N	1	B;B;B	0.12013	0.005;0.001;0.005	B;B;B	0.12156	0.007;0.001;0.007	T	0.31641	-0.9936	10	0.40728	T	0.16	.	5.1431	0.14969	0.0:0.6034:0.1781:0.2185	.	79;79;113	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	M	79;79;113;79	ENSP00000438647:T79M;ENSP00000357411:T79M;ENSP00000406286:T113M;ENSP00000292176:T79M	ENSP00000292176:T79M	T	+	2	0	ZBTB7B	153253996	0.000000	0.05858	0.038000	0.18304	0.008000	0.06430	0.328000	0.19681	0.170000	0.19704	0.455000	0.32223	ACG	ZBTB7B	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000160685		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	-	0.00	66	0	C	NM_015872		154987372	+1	tier1	-	no_errors	ENST00000417934	ensembl	human	known	74_37	missense	15.69	43	8	SNP	0.001	T
ZFHX2	85446	genome.wustl.edu	37	14	23996152	23996152	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:23996152T>A	ENST00000419474.3	-	8	3521	c.3166A>T	c.(3166-3168)Aaa>Taa	p.K1056*	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	1056					adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						GACAGCACTTTGGTTGTAAAT	0.542																																																	0																																										SO:0001587	stop_gained	0			AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.3166A>T	14.37:g.23996152T>A	ENSP00000413418:p.Lys1056*		Q9UPU6	Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.K1056*	ENST00000419474.3	37	c.3166	CCDS55907.1	14	.	.	.	.	.	.	.	.	.	.	T	42	9.774930	0.99260	.	.	ENSG00000136367	ENST00000419474	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	13.4628	0.61237	0.0:0.0:0.0:1.0	.	.	.	.	X	1056	.	ENSP00000413418:K1056X	K	-	1	0	ZFHX2	23065992	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.106000	0.57804	2.163000	0.67991	0.383000	0.25322	AAA	ZFHX2	-	NULL	ENSG00000136367		0.542	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3		0.00	60	0	T	NM_014894		23996152	-1			no_errors	ENST00000419474	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	1.000	A
ZFP42	132625	genome.wustl.edu	37	4	188924157	188924157	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:188924157G>C	ENST00000326866.4	+	4	604	c.196G>C	c.(196-198)Gat>Cat	p.D66H	ZFP42_ENST00000509524.1_Missense_Mutation_p.D66H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	66					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCTCGGAGGGGATGATTTCTC	0.502																																																	0													103.0	96.0	99.0					4																	188924157		2203	4300	6503	SO:0001583	missense	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.196G>C	4.37:g.188924157G>C	ENSP00000317686:p.Asp66His		D3DP65|Q8WXE2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D66H	ENST00000326866.4	37	c.196	CCDS3849.1	4	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517247	0.44763	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.75260	-0.92;-0.92	4.52	3.68	0.42216	.	0.261456	0.28700	U	0.014423	T	0.76765	0.4033	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	P	0.54460	0.753	T	0.69191	-0.5210	10	0.87932	D	0	.	10.7394	0.46145	0.0935:0.0:0.9064:0.0	.	66	Q96MM3	ZFP42_HUMAN	H	66	ENSP00000317686:D66H;ENSP00000424662:D66H	ENSP00000317686:D66H	D	+	1	0	ZFP42	189161151	0.708000	0.27876	0.005000	0.12908	0.001000	0.01503	3.313000	0.51935	1.511000	0.48818	0.655000	0.94253	GAT	ZFP42	-	NULL	ENSG00000179059		0.502	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	-	0.00	54	0	G	NM_174900		188924157	+1	tier1	-	no_errors	ENST00000326866	ensembl	human	known	74_37	missense	16.00	42	8	SNP	0.010	C
ZFP42	132625	genome.wustl.edu	37	4	188924157	188924157	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:188924157G>C	ENST00000326866.4	+	4	604	c.196G>C	c.(196-198)Gat>Cat	p.D66H	ZFP42_ENST00000509524.1_Missense_Mutation_p.D66H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	66					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCTCGGAGGGGATGATTTCTC	0.502																																																	0													103.0	96.0	99.0					4																	188924157		2203	4300	6503	SO:0001583	missense	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.196G>C	4.37:g.188924157G>C	ENSP00000317686:p.Asp66His		D3DP65|Q8WXE2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D66H	ENST00000326866.4	37	c.196	CCDS3849.1	4	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517247	0.44763	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.75260	-0.92;-0.92	4.52	3.68	0.42216	.	0.261456	0.28700	U	0.014423	T	0.76765	0.4033	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	P	0.54460	0.753	T	0.69191	-0.5210	10	0.87932	D	0	.	10.7394	0.46145	0.0935:0.0:0.9064:0.0	.	66	Q96MM3	ZFP42_HUMAN	H	66	ENSP00000317686:D66H;ENSP00000424662:D66H	ENSP00000317686:D66H	D	+	1	0	ZFP42	189161151	0.708000	0.27876	0.005000	0.12908	0.001000	0.01503	3.313000	0.51935	1.511000	0.48818	0.655000	0.94253	GAT	ZFP42	-	NULL	ENSG00000179059		0.502	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	-	0.00	79	0	G	NM_174900		188924157	+1	tier1	-	no_errors	ENST00000326866	ensembl	human	known	74_37	missense	16.00	42	8	SNP	0.010	C
ZFPM2	23414	genome.wustl.edu	37	8	106814840	106814840	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:106814840A>G	ENST00000407775.2	+	8	2780	c.2530A>G	c.(2530-2532)Acc>Gcc	p.T844A	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T575A|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T712A|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T712A|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	844					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGAGCGGACGACCACGTCTCC	0.458																																																	0													49.0	44.0	46.0					8																	106814840		1956	4166	6122	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2530A>G	8.37:g.106814840A>G	ENSP00000384179:p.Thr844Ala		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T844A	ENST00000407775.2	37	c.2530	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	A	7.350	0.622594	0.14193	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.17370	2.28;2.78;2.78;3.99	5.86	4.66	0.58398	.	0.135969	0.64402	D	0.000002	T	0.07728	0.0194	N	0.08118	0	0.26163	N	0.97998	B	0.11235	0.004	B	0.04013	0.001	T	0.31420	-0.9944	10	0.16420	T	0.52	.	8.6656	0.34118	0.6209:0.0:0.0:0.3791	.	844	Q8WW38	FOG2_HUMAN	A	844;712;712;575	ENSP00000384179:T844A;ENSP00000430757:T712A;ENSP00000428720:T712A;ENSP00000367733:T575A	ENSP00000367733:T575A	T	+	1	0	ZFPM2	106884016	0.994000	0.37717	0.047000	0.18901	0.988000	0.76386	3.688000	0.54699	2.241000	0.73720	0.533000	0.62120	ACC	ZFPM2	-	NULL	ENSG00000169946		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0.00	45	0	A			106814840	+1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	65.38	18	34	SNP	0.639	G
ZFPM2	23414	genome.wustl.edu	37	8	106814840	106814840	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:106814840A>G	ENST00000407775.2	+	8	2780	c.2530A>G	c.(2530-2532)Acc>Gcc	p.T844A	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T575A|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T712A|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T712A|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	844					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGAGCGGACGACCACGTCTCC	0.458																																																	0													49.0	44.0	46.0					8																	106814840		1956	4166	6122	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2530A>G	8.37:g.106814840A>G	ENSP00000384179:p.Thr844Ala		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T844A	ENST00000407775.2	37	c.2530	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	A	7.350	0.622594	0.14193	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.17370	2.28;2.78;2.78;3.99	5.86	4.66	0.58398	.	0.135969	0.64402	D	0.000002	T	0.07728	0.0194	N	0.08118	0	0.26163	N	0.97998	B	0.11235	0.004	B	0.04013	0.001	T	0.31420	-0.9944	10	0.16420	T	0.52	.	8.6656	0.34118	0.6209:0.0:0.0:0.3791	.	844	Q8WW38	FOG2_HUMAN	A	844;712;712;575	ENSP00000384179:T844A;ENSP00000430757:T712A;ENSP00000428720:T712A;ENSP00000367733:T575A	ENSP00000367733:T575A	T	+	1	0	ZFPM2	106884016	0.994000	0.37717	0.047000	0.18901	0.988000	0.76386	3.688000	0.54699	2.241000	0.73720	0.533000	0.62120	ACC	ZFPM2	-	NULL	ENSG00000169946		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0.00	74	0	A			106814840	+1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	65.38	18	34	SNP	0.639	G
ZNF107	51427	genome.wustl.edu	37	7	64168006	64168006	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:64168006T>G	ENST00000395391.1	+	4	2699	c.1324T>G	c.(1324-1326)Tgt>Ggt	p.C442G	ZNF107_ENST00000423627.1_Missense_Mutation_p.C442G|ZNF107_ENST00000344930.3_Missense_Mutation_p.C442G			Q9UII5	ZN107_HUMAN	zinc finger protein 107	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACCCTACAAATGTGAAGAATG	0.363																																																	0													29.0	32.0	31.0					7																	64168006		2192	4292	6484	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1324T>G	7.37:g.64168006T>G	ENSP00000378789:p.Cys442Gly			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C442G	ENST00000395391.1	37	c.1324	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	16.66	3.183733	0.57800	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	D;D;D	0.85258	-1.96;-1.96;-1.96	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94288	0.8165	H	0.98295	4.195	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84155	0.0425	8	.	.	.	.	6.2392	0.20780	0.0:0.0:0.0:1.0	.	442	Q9UII5	ZN107_HUMAN	G	442	ENSP00000343443:C442G;ENSP00000400037:C442G;ENSP00000378789:C442G	.	C	+	1	0	ZNF107	63805441	0.999000	0.42202	0.225000	0.23894	0.971000	0.66376	3.930000	0.56522	0.530000	0.28619	0.260000	0.18958	TGT	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196247		0.363	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1		0.00	49	0	T	NM_016220		64168006	+1			no_errors	ENST00000344930	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.022	G
ZNF133	7692	genome.wustl.edu	37	20	18296340	18296340	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:18296340A>T	ENST00000316358.4	+	4	942	c.845A>T	c.(844-846)aAg>aTg	p.K282M	ZNF133_ENST00000401790.1_Missense_Mutation_p.K282M|ZNF133_ENST00000538547.1_Missense_Mutation_p.K187M|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000535822.1_Missense_Mutation_p.K187M|ZNF133_ENST00000402618.2_Missense_Mutation_p.K219M|ZNF133_ENST00000377671.3_Missense_Mutation_p.K281M|ZNF133_ENST00000396026.3_Missense_Mutation_p.K285M|ZNF133_ENST00000462170.1_3'UTR	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	282					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TTTAACCGGAAGTCAACGCTA	0.532																																																	0													83.0	69.0	74.0					20																	18296340		2203	4300	6503	SO:0001583	missense	0			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.845A>T	20.37:g.18296340A>T	ENSP00000346090:p.Lys282Met		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	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.K285M	ENST00000316358.4	37	c.854		20	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598000	0.28445	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.35973	2.3;2.3;1.28;2.3;1.28;1.28;2.3	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000182	T	0.53302	0.1788	M	0.75447	2.3	0.25509	N	0.987473	D;D;D;D	0.76494	0.999;0.994;0.997;0.998	D;P;D;D	0.68943	0.959;0.851;0.914;0.961	T	0.48234	-0.9053	10	0.72032	D	0.01	-35.2524	6.5733	0.22551	0.8956:0.0:0.1044:0.0	.	219;285;282;281	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	M	281;285;219;282;187;187;282	ENSP00000366899:K281M;ENSP00000400897:K285M;ENSP00000385279:K219M;ENSP00000383945:K282M;ENSP00000442978:K187M;ENSP00000439427:K187M;ENSP00000346090:K282M	ENSP00000346090:K282M	K	+	2	0	ZNF133	18244340	0.000000	0.05858	1.000000	0.80357	0.057000	0.15508	-1.032000	0.03574	2.154000	0.67381	0.459000	0.35465	AAG	ZNF133	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125846		0.532	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	-	0.00	60	0	A	NM_003434		18296340	+1	tier1	-	no_errors	ENST00000396026	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.849	T
ZNF133	7692	genome.wustl.edu	37	20	18296340	18296340	+	Missense_Mutation	SNP	A	A	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:18296340A>T	ENST00000316358.4	+	4	942	c.845A>T	c.(844-846)aAg>aTg	p.K282M	ZNF133_ENST00000401790.1_Missense_Mutation_p.K282M|ZNF133_ENST00000538547.1_Missense_Mutation_p.K187M|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000535822.1_Missense_Mutation_p.K187M|ZNF133_ENST00000402618.2_Missense_Mutation_p.K219M|ZNF133_ENST00000377671.3_Missense_Mutation_p.K281M|ZNF133_ENST00000396026.3_Missense_Mutation_p.K285M|ZNF133_ENST00000462170.1_3'UTR	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	282					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TTTAACCGGAAGTCAACGCTA	0.532																																																	0													83.0	69.0	74.0					20																	18296340		2203	4300	6503	SO:0001583	missense	0			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.845A>T	20.37:g.18296340A>T	ENSP00000346090:p.Lys282Met		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	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.K285M	ENST00000316358.4	37	c.854		20	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598000	0.28445	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.35973	2.3;2.3;1.28;2.3;1.28;1.28;2.3	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000182	T	0.53302	0.1788	M	0.75447	2.3	0.25509	N	0.987473	D;D;D;D	0.76494	0.999;0.994;0.997;0.998	D;P;D;D	0.68943	0.959;0.851;0.914;0.961	T	0.48234	-0.9053	10	0.72032	D	0.01	-35.2524	6.5733	0.22551	0.8956:0.0:0.1044:0.0	.	219;285;282;281	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	M	281;285;219;282;187;187;282	ENSP00000366899:K281M;ENSP00000400897:K285M;ENSP00000385279:K219M;ENSP00000383945:K282M;ENSP00000442978:K187M;ENSP00000439427:K187M;ENSP00000346090:K282M	ENSP00000346090:K282M	K	+	2	0	ZNF133	18244340	0.000000	0.05858	1.000000	0.80357	0.057000	0.15508	-1.032000	0.03574	2.154000	0.67381	0.459000	0.35465	AAG	ZNF133	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125846		0.532	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	-	0.00	79	0	A	NM_003434		18296340	+1	tier1	-	no_errors	ENST00000396026	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.849	T
ZNF257	113835	genome.wustl.edu	37	19	22271475	22271475	+	Missense_Mutation	SNP	G	G	T	rs538824538		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:22271475G>T	ENST00000594947.1	+	4	1067	c.923G>T	c.(922-924)aGa>aTa	p.R308I		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAACATAAGAGAATTCATACT	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20641	0.0		0.0	False		,,,				2504	0.0																0													47.0	52.0	50.0					19																	22271475		2133	4262	6395	SO:0001583	missense	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.923G>T	19.37:g.22271475G>T	ENSP00000470209:p.Arg308Ile		B3KPS4|E9PG34|Q8NE34	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.R308I	ENST00000594947.1	37	c.923	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	G	3.616	-0.078616	0.07141	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.334	0.12666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48960	0.1529	M	0.66378	2.025	0.44024	D	0.996748	B	0.26876	0.162	B	0.27715	0.082	T	0.21793	-1.0235	8	0.25106	T	0.35	.	7.0337	0.24980	0.0:0.0:0.7294:0.2705	.	308	Q9Y2Q1	ZN257_HUMAN	I	308;280	.	ENSP00000380312:R280I	R	+	2	0	ZNF257	22063315	0.000000	0.05858	0.351000	0.25721	0.204000	0.24138	-0.487000	0.06505	-0.427000	0.07350	-0.823000	0.03104	AGA	ZNF257	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197134		0.403	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1		0.00	56	0	G			22271475	+1			no_errors	ENST00000594947	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
ZNF234	10780	genome.wustl.edu	37	19	44661688	44661688	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:44661688A>C	ENST00000426739.2	+	6	1777	c.1519A>C	c.(1519-1521)Aca>Cca	p.T507P	ZNF234_ENST00000592437.1_Missense_Mutation_p.T507P	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TAGGATCCACACAGGGGAGAA	0.453																																																	0													73.0	78.0	76.0					19																	44661688		2133	4275	6408	SO:0001583	missense	0			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1519A>C	19.37:g.44661688A>C	ENSP00000400878:p.Thr507Pro		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	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.T507P	ENST00000426739.2	37	c.1519	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067625	0.76301	.	.	ENSG00000167380	ENST00000426739	T	0.25749	1.78	4.03	4.03	0.46877	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47710	0.1460	M	0.67517	2.055	0.35159	D	0.770499	D	0.76494	0.999	D	0.87578	0.998	T	0.62455	-0.6851	9	0.87932	D	0	.	12.3548	0.55169	1.0:0.0:0.0:0.0	.	507	Q14588	ZN234_HUMAN	P	507	ENSP00000400878:T507P	ENSP00000400878:T507P	T	+	1	0	ZNF226	49353528	0.994000	0.37717	0.928000	0.36995	0.941000	0.58515	3.203000	0.51075	1.812000	0.52913	0.482000	0.46254	ACA	ZNF234	-	pfscan_Znf_C2H2	ENSG00000263002		0.453	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	-	0.00	101	0	A			44661688	+1	tier1	-	no_errors	ENST00000426739	ensembl	human	known	74_37	missense	25.68	54	19	SNP	1.000	C
ZNF234	10780	genome.wustl.edu	37	19	44661688	44661688	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:44661688A>C	ENST00000426739.2	+	6	1777	c.1519A>C	c.(1519-1521)Aca>Cca	p.T507P	ZNF234_ENST00000592437.1_Missense_Mutation_p.T507P	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TAGGATCCACACAGGGGAGAA	0.453																																																	0													73.0	78.0	76.0					19																	44661688		2133	4275	6408	SO:0001583	missense	0			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1519A>C	19.37:g.44661688A>C	ENSP00000400878:p.Thr507Pro		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	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.T507P	ENST00000426739.2	37	c.1519	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067625	0.76301	.	.	ENSG00000167380	ENST00000426739	T	0.25749	1.78	4.03	4.03	0.46877	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47710	0.1460	M	0.67517	2.055	0.35159	D	0.770499	D	0.76494	0.999	D	0.87578	0.998	T	0.62455	-0.6851	9	0.87932	D	0	.	12.3548	0.55169	1.0:0.0:0.0:0.0	.	507	Q14588	ZN234_HUMAN	P	507	ENSP00000400878:T507P	ENSP00000400878:T507P	T	+	1	0	ZNF226	49353528	0.994000	0.37717	0.928000	0.36995	0.941000	0.58515	3.203000	0.51075	1.812000	0.52913	0.482000	0.46254	ACA	ZNF234	-	pfscan_Znf_C2H2	ENSG00000263002		0.453	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	-	0.00	107	0	A			44661688	+1	tier1	-	no_errors	ENST00000426739	ensembl	human	known	74_37	missense	25.68	54	19	SNP	1.000	C
ZNF229	7772	genome.wustl.edu	37	19	44933017	44933017	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:44933017G>T	ENST00000588931.1	-	6	2372	c.1939C>A	c.(1939-1941)Cag>Aag	p.Q647K	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.Q641K|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGGACTCTCTGGTGAATGAGA	0.517																																																	0													108.0	111.0	110.0					19																	44933017		2169	4288	6457	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1939C>A	19.37:g.44933017G>T	ENSP00000466519:p.Gln647Lys		B2RWN3|Q59FV2|Q86WL9	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.Q647K	ENST00000588931.1	37	c.1939	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685312	0.47991	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.35	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17066	0.0410	N	0.04820	-0.15	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.21586	-1.0241	8	0.32370	T	0.25	.	7.3565	0.26721	0.0:0.1846:0.6256:0.1898	.	647	Q9UJW7	ZN229_HUMAN	K	647	.	ENSP00000291187:Q647K	Q	-	1	0	ZNF229	49624857	0.004000	0.15560	0.040000	0.18447	0.674000	0.39518	0.322000	0.19576	0.492000	0.27815	0.609000	0.83330	CAG	ZNF229	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167383		0.517	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	-	0.00	73	0	G	NM_014518		44933017	-1	tier1	-	no_errors	ENST00000588931	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.411	T
ZNF292	23036	genome.wustl.edu	37	6	87968021	87968021	+	Silent	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:87968021T>G	ENST00000369577.3	+	8	4717	c.4674T>G	c.(4672-4674)acT>acG	p.T1558T	ZNF292_ENST00000339907.4_Silent_p.T1553T	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1558						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACTCCAAAACTTCCTCCATTG	0.438																																																	0													73.0	72.0	72.0					6																	87968021		1997	4173	6170	SO:0001819	synonymous_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4674T>G	6.37:g.87968021T>G			Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1558	ENST00000369577.3	37	c.4674	CCDS47457.1	6																																																																																			ZNF292	-	NULL	ENSG00000188994		0.438	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2		0.00	44	0	T	NM_015021		87968021	+1			no_errors	ENST00000369577	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.999	G
ZNF408	79797	genome.wustl.edu	37	11	46724278	46724278	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:46724278G>C	ENST00000311764.2	+	3	585	c.355G>C	c.(355-357)Gac>Cac	p.D119H	ARHGAP1_ENST00000311956.4_5'Flank	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCATGGGGAGACGTGTGTGC	0.468																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													258.0	248.0	251.0					11																	46724278		2201	4299	6500	SO:0001583	missense	0			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.355G>C	11.37:g.46724278G>C	ENSP00000309606:p.Asp119His			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D119H	ENST00000311764.2	37	c.355	CCDS7923.1	11	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260639	0.39995	.	.	ENSG00000175213	ENST00000311764	T	0.10382	2.88	5.06	4.14	0.48551	.	0.362815	0.19711	N	0.107809	T	0.18341	0.0440	M	0.65975	2.015	0.23144	N	0.998221	D;D	0.56746	0.977;0.977	P;P	0.49708	0.62;0.62	T	0.07947	-1.0746	10	0.72032	D	0.01	-15.2848	8.869	0.35305	0.0992:0.0:0.9008:0.0	.	111;119	B4DXY4;Q9H9D4	.;ZN408_HUMAN	H	119	ENSP00000309606:D119H	ENSP00000309606:D119H	D	+	1	0	ZNF408	46680854	0.809000	0.29036	0.741000	0.31004	0.108000	0.19459	1.107000	0.31110	1.362000	0.46000	0.655000	0.94253	GAC	ZNF408	-	NULL	ENSG00000175213		0.468	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	-	0.00	146	0	G	NM_024741		46724278	+1	tier1	-	no_errors	ENST00000311764	ensembl	human	known	74_37	missense	13.48	77	12	SNP	0.630	C
ZNF408	79797	genome.wustl.edu	37	11	46724278	46724278	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:46724278G>C	ENST00000311764.2	+	3	585	c.355G>C	c.(355-357)Gac>Cac	p.D119H	ARHGAP1_ENST00000311956.4_5'Flank	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCATGGGGAGACGTGTGTGC	0.468																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													258.0	248.0	251.0					11																	46724278		2201	4299	6500	SO:0001583	missense	0			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.355G>C	11.37:g.46724278G>C	ENSP00000309606:p.Asp119His			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D119H	ENST00000311764.2	37	c.355	CCDS7923.1	11	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260639	0.39995	.	.	ENSG00000175213	ENST00000311764	T	0.10382	2.88	5.06	4.14	0.48551	.	0.362815	0.19711	N	0.107809	T	0.18341	0.0440	M	0.65975	2.015	0.23144	N	0.998221	D;D	0.56746	0.977;0.977	P;P	0.49708	0.62;0.62	T	0.07947	-1.0746	10	0.72032	D	0.01	-15.2848	8.869	0.35305	0.0992:0.0:0.9008:0.0	.	111;119	B4DXY4;Q9H9D4	.;ZN408_HUMAN	H	119	ENSP00000309606:D119H	ENSP00000309606:D119H	D	+	1	0	ZNF408	46680854	0.809000	0.29036	0.741000	0.31004	0.108000	0.19459	1.107000	0.31110	1.362000	0.46000	0.655000	0.94253	GAC	ZNF408	-	NULL	ENSG00000175213		0.468	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	-	0.00	97	0	G	NM_024741		46724278	+1	tier1	-	no_errors	ENST00000311764	ensembl	human	known	74_37	missense	13.48	77	12	SNP	0.630	C
ZNF410	57862	genome.wustl.edu	37	14	74371668	74371668	+	Silent	SNP	G	G	A	rs375182218		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:74371668G>A	ENST00000555044.1	+	7	989	c.795G>A	c.(793-795)agG>agA	p.R265R	Y_RNA_ENST00000362602.1_RNA|ZNF410_ENST00000540593.1_Silent_p.R192R|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000324593.6_Silent_p.R265R|RP5-1021I20.6_ENST00000602874.1_RNA|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000334521.4_Silent_p.R212R|ZNF410_ENST00000442160.3_Silent_p.R282R	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TGCTGCAGAGGCTGAAGGTGC	0.453																																																	0								G	,,,,	0,4406		0,0,2203	98.0	87.0	91.0		846,795,576,207,795	2.6	1.0	14		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF410	NM_001242924.1,NM_001242926.1,NM_001242927.1,NM_001242928.1,NM_021188.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	282/517,265/432,192/406,69/313,265/479	74371668	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.795G>A	14.37:g.74371668G>A			B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A256T	ENST00000555044.1	37	c.766	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595100	0.28445	0.0	1.16E-4	ENSG00000119725	ENST00000555602	.	.	.	5.55	2.57	0.30868	.	.	.	.	.	T	0.60843	0.2300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61564	-0.7037	5	0.87932	D	0	.	5.8768	0.18834	0.2991:0.1372:0.5636:0.0	.	.	.	.	D	79	.	ENSP00000443318:G162D	G	+	2	0	ZNF410	73441421	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.999000	0.49473	0.907000	0.36646	-0.140000	0.14226	GGC	ZNF410	-	NULL	ENSG00000119725		0.453	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	-	0.00	69	0	G	NM_021188		74371668	+1	tier1	-	no_errors	ENST00000398139	ensembl	human	known	74_37	missense	29.41	47	20	SNP	1.000	A
ZNF410	57862	genome.wustl.edu	37	14	74371668	74371668	+	Silent	SNP	G	G	A	rs375182218		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:74371668G>A	ENST00000555044.1	+	7	989	c.795G>A	c.(793-795)agG>agA	p.R265R	Y_RNA_ENST00000362602.1_RNA|ZNF410_ENST00000540593.1_Silent_p.R192R|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000324593.6_Silent_p.R265R|RP5-1021I20.6_ENST00000602874.1_RNA|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000334521.4_Silent_p.R212R|ZNF410_ENST00000442160.3_Silent_p.R282R	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TGCTGCAGAGGCTGAAGGTGC	0.453																																																	0								G	,,,,	0,4406		0,0,2203	98.0	87.0	91.0		846,795,576,207,795	2.6	1.0	14		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF410	NM_001242924.1,NM_001242926.1,NM_001242927.1,NM_001242928.1,NM_021188.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	282/517,265/432,192/406,69/313,265/479	74371668	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.795G>A	14.37:g.74371668G>A			B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A256T	ENST00000555044.1	37	c.766	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595100	0.28445	0.0	1.16E-4	ENSG00000119725	ENST00000555602	.	.	.	5.55	2.57	0.30868	.	.	.	.	.	T	0.60843	0.2300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61564	-0.7037	5	0.87932	D	0	.	5.8768	0.18834	0.2991:0.1372:0.5636:0.0	.	.	.	.	D	79	.	ENSP00000443318:G162D	G	+	2	0	ZNF410	73441421	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.999000	0.49473	0.907000	0.36646	-0.140000	0.14226	GGC	ZNF410	-	NULL	ENSG00000119725		0.453	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	-	0.00	80	0	G	NM_021188		74371668	+1	tier1	-	no_errors	ENST00000398139	ensembl	human	known	74_37	missense	29.41	47	20	SNP	1.000	A
ZNF467	168544	genome.wustl.edu	37	7	149462894	149462894	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:149462894G>T	ENST00000302017.3	-	5	1110	c.697C>A	c.(697-699)Cgc>Agc	p.R233S	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCAGGTGGCGGGTCAGATGG	0.682																																																	0													18.0	16.0	17.0					7																	149462894		2201	4297	6498	SO:0001583	missense	0			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.697C>A	7.37:g.149462894G>T	ENSP00000304769:p.Arg233Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R233S	ENST00000302017.3	37	c.697	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	g	15.81	2.941755	0.53079	.	.	ENSG00000181444	ENST00000302017	T	0.07021	3.23	4.06	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32093	U	0.006589	T	0.12817	0.0311	N	0.16833	0.445	0.29607	N	0.847194	D	0.89917	1.0	D	0.85130	0.997	T	0.10042	-1.0647	10	0.17832	T	0.49	-23.3294	12.1655	0.54127	0.0:0.0:0.8282:0.1718	.	233	Q7Z7K2	ZN467_HUMAN	S	233	ENSP00000304769:R233S	ENSP00000304769:R233S	R	-	1	0	ZNF467	149093827	0.000000	0.05858	1.000000	0.80357	0.978000	0.69477	0.011000	0.13264	1.779000	0.52309	0.306000	0.20318	CGC	ZNF467	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181444		0.682	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	-	0.00	51	0	G	NM_207336		149462894	-1	tier1	-	no_errors	ENST00000302017	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.999	T
ZNF503	84858	genome.wustl.edu	37	10	77163096	77163096	+	5'Flank	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:77163096G>C	ENST00000372524.4	-	0	0				RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000425916.3_RNA|ZNF503-AS2_ENST00000486015.1_RNA|ZNF503_ENST00000535216.1_5'Flank|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503						G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					ATCCCCGCAGGCTGGGGAGCC	0.627																																																	0																																										SO:0001631	upstream_gene_variant	0			AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526		10.37:g.77163096G>C	Exception_encountered		Q8NAC5|Q96E25|Q96IJ0	RNA	SNP	-	NULL	ENST00000372524.4	37	NULL	CCDS7350.1	10	.	.	.	.	.	.	.	.	.	.	g	18.03	3.533157	0.64972	.	.	ENSG00000237149	ENST00000425916	.	.	.	5.27	-5.75	0.02384	.	.	.	.	.	T	0.30448	0.0765	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43718	-0.9374	5	0.87932	D	0	.	2.1814	0.03876	0.1841:0.3902:0.1168:0.3089	.	.	.	.	P	28	.	ENSP00000412272:A28P	A	+	1	0	NCRNA00245	76833102	0.000000	0.05858	0.000000	0.03702	0.390000	0.30446	-1.470000	0.02346	-0.913000	0.03832	0.543000	0.68304	GCT	ZNF503-AS2	-	-	ENSG00000237149		0.627	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF503-AS2	HGNC	protein_coding	OTTHUMT00000048826.1	-	0.00	59	0	G	NM_032772		77163096	+1	tier1	-	no_errors	ENST00000425916	ensembl	human	known	74_37	rna	27.27	24	9	SNP	0.000	C
ZNF503	84858	genome.wustl.edu	37	10	77163096	77163096	+	5'Flank	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:77163096G>C	ENST00000372524.4	-	0	0				RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000425916.3_RNA|ZNF503-AS2_ENST00000486015.1_RNA|ZNF503_ENST00000535216.1_5'Flank|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503						G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					ATCCCCGCAGGCTGGGGAGCC	0.627																																																	0																																										SO:0001631	upstream_gene_variant	0			AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526		10.37:g.77163096G>C	Exception_encountered		Q8NAC5|Q96E25|Q96IJ0	RNA	SNP	-	NULL	ENST00000372524.4	37	NULL	CCDS7350.1	10	.	.	.	.	.	.	.	.	.	.	g	18.03	3.533157	0.64972	.	.	ENSG00000237149	ENST00000425916	.	.	.	5.27	-5.75	0.02384	.	.	.	.	.	T	0.30448	0.0765	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43718	-0.9374	5	0.87932	D	0	.	2.1814	0.03876	0.1841:0.3902:0.1168:0.3089	.	.	.	.	P	28	.	ENSP00000412272:A28P	A	+	1	0	NCRNA00245	76833102	0.000000	0.05858	0.000000	0.03702	0.390000	0.30446	-1.470000	0.02346	-0.913000	0.03832	0.543000	0.68304	GCT	ZNF503-AS2	-	-	ENSG00000237149		0.627	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF503-AS2	HGNC	protein_coding	OTTHUMT00000048826.1	-	0.00	65	0	G	NM_032772		77163096	+1	tier1	-	no_errors	ENST00000425916	ensembl	human	known	74_37	rna	27.27	24	9	SNP	0.000	C
ZNF507	22847	genome.wustl.edu	37	19	32845759	32845759	+	Missense_Mutation	SNP	G	G	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:32845759G>A	ENST00000311921.4	+	2	2215	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	ZNF507_ENST00000544431.1_Missense_Mutation_p.E675K|ZNF507_ENST00000355898.5_Missense_Mutation_p.E675K	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	675					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TCCTATCTGCGAGCACATAGC	0.483																																																	0													160.0	125.0	137.0					19																	32845759		2203	4300	6503	SO:0001583	missense	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2023G>A	19.37:g.32845759G>A	ENSP00000312277:p.Glu675Lys		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E675K	ENST00000311921.4	37	c.2023	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622289	0.87460	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.15487	2.42;2.42;2.42	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	N	0.25144	0.715	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.08848	-1.0702	10	0.62326	D	0.03	-25.2868	19.2483	0.93912	0.0:0.0:1.0:0.0	.	675;675	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	K	675	ENSP00000348162:E675K;ENSP00000312277:E675K;ENSP00000441549:E675K	ENSP00000312277:E675K	E	+	1	0	ZNF507	37537599	1.000000	0.71417	0.998000	0.56505	0.215000	0.24574	9.476000	0.97823	2.540000	0.85666	0.491000	0.48974	GAG	ZNF507	-	smart_Znf_C2H2-like	ENSG00000168813		0.483	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3		0.00	54	0	G	NM_014910		32845759	+1			no_errors	ENST00000311921	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
ZNF565	147929	genome.wustl.edu	37	19	36674142	36674142	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:36674142C>A	ENST00000355114.5	-	5	1572	c.846G>T	c.(844-846)caG>caT	p.Q282H	ZNF565_ENST00000392173.2_Missense_Mutation_p.Q242H|ZNF565_ENST00000304116.5_Missense_Mutation_p.Q242H			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TATGAAGTCTCTGATGTAGAA	0.438																																																	0													83.0	77.0	79.0					19																	36674142		2203	4300	6503	SO:0001583	missense	0			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.846G>T	19.37:g.36674142C>A	ENSP00000347234:p.Gln282His		B3KQ35|Q6NUS2	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.Q242H	ENST00000355114.5	37	c.726		19	.	.	.	.	.	.	.	.	.	.	c	9.665	1.145125	0.21288	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.36520	1.25;1.25;1.25	4.36	-0.629	0.11533	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37715	N	0.001971	T	0.20088	0.0483	L	0.38531	1.155	0.22500	N	0.999041	P	0.35456	0.502	B	0.28849	0.095	T	0.10497	-1.0627	10	0.56958	D	0.05	.	4.9067	0.13802	0.0:0.5506:0.1548:0.2946	.	242	Q8N9K5	ZN565_HUMAN	H	242;242;282	ENSP00000376013:Q242H;ENSP00000306869:Q242H;ENSP00000347234:Q282H	ENSP00000306869:Q242H	Q	-	3	2	ZNF565	41365982	0.003000	0.15002	0.107000	0.21349	0.009000	0.06853	-0.477000	0.06583	-0.077000	0.12752	0.585000	0.79938	CAG	ZNF565	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196357		0.438	ZNF565-003	PUTATIVE	basic	protein_coding	ZNF565	HGNC	protein_coding	OTTHUMT00000451697.1	-	0.00	33	0	C	NM_152477		36674142	-1	tier1	-	no_errors	ENST00000304116	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.980	A
ZNF570	148268	genome.wustl.edu	37	19	37960418	37960418	+	5'UTR	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:37960418A>C	ENST00000330173.1	+	0	437				ZNF569_ENST00000591073.1_5'Flank|ZNF570_ENST00000586475.1_Missense_Mutation_p.S26R|ZNF569_ENST00000592490.1_5'Flank|ZNF569_ENST00000316950.6_5'Flank|ZNF569_ENST00000392149.2_5'Flank|ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000591380.1_3'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCTCCGGAAGCTCGTCGCA	0.622																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.-93A>C	19.37:g.37960418A>C			A1L472|B4DMP1	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.S26R	ENST00000330173.1	37	c.76	CCDS12504.1	19																																																																																			ZNF570	-	NULL	ENSG00000171827		0.622	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0.00	33	0	A	NM_144694		37960418	+1	tier1	-	no_errors	ENST00000586475	ensembl	human	putative	74_37	missense	41.18	10	7	SNP	0.000	C
ZNF570	148268	genome.wustl.edu	37	19	37960418	37960418	+	5'UTR	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:37960418A>C	ENST00000330173.1	+	0	437				ZNF569_ENST00000591073.1_5'Flank|ZNF570_ENST00000586475.1_Missense_Mutation_p.S26R|ZNF569_ENST00000592490.1_5'Flank|ZNF569_ENST00000316950.6_5'Flank|ZNF569_ENST00000392149.2_5'Flank|ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000591380.1_3'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCTCCGGAAGCTCGTCGCA	0.622																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.-93A>C	19.37:g.37960418A>C			A1L472|B4DMP1	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.S26R	ENST00000330173.1	37	c.76	CCDS12504.1	19																																																																																			ZNF570	-	NULL	ENSG00000171827		0.622	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0.00	34	0	A	NM_144694		37960418	+1	tier1	-	no_errors	ENST00000586475	ensembl	human	putative	74_37	missense	41.18	10	7	SNP	0.000	C
AC006116.24	0	genome.wustl.edu	37	19	56888972	56888972	+	RNA	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:56888972C>A	ENST00000591836.1	-	0	0				ZNF542_ENST00000490123.1_RNA																							TCACTCTGCACAGGAGAATTC	0.418																																																	0																																												0																															19.37:g.56888972C>A				RNA	SNP	-	NULL	ENST00000591836.1	37	NULL		19																																																																																			ZNF542	-	-	ENSG00000240225		0.418	AC006116.24-001	KNOWN	basic	sense_intronic	ZNF542	HGNC	sense_intronic	OTTHUMT00000459747.1	-	0.00	64	0	C			56888972	+1	tier1	-	no_errors	ENST00000467807	ensembl	human	known	74_37	rna	55.56	28	35	SNP	0.980	A
AC006116.24	0	genome.wustl.edu	37	19	56888972	56888972	+	RNA	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:56888972C>A	ENST00000591836.1	-	0	0				ZNF542_ENST00000490123.1_RNA																							TCACTCTGCACAGGAGAATTC	0.418																																																	0																																												0																															19.37:g.56888972C>A				RNA	SNP	-	NULL	ENST00000591836.1	37	NULL		19																																																																																			ZNF542	-	-	ENSG00000240225		0.418	AC006116.24-001	KNOWN	basic	sense_intronic	ZNF542	HGNC	sense_intronic	OTTHUMT00000459747.1	-	0.00	91	0	C			56888972	+1	tier1	-	no_errors	ENST00000467807	ensembl	human	known	74_37	rna	55.56	28	35	SNP	0.980	A
ZNF572	137209	genome.wustl.edu	37	8	125989136	125989136	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:125989136C>A	ENST00000319286.5	+	3	780	c.626C>A	c.(625-627)aCt>aAt	p.T209N		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATGAGAGAACTCACACGGGA	0.458										HNSCC(60;0.17)																																							0													78.0	81.0	80.0					8																	125989136		2203	4300	6503	SO:0001583	missense	0			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.626C>A	8.37:g.125989136C>A	ENSP00000319305:p.Thr209Asn		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T209N	ENST00000319286.5	37	c.626	CCDS6354.1	8	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752466	0.49362	.	.	ENSG00000180938	ENST00000319286	T	0.01025	5.43	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000107	T	0.03263	0.0095	M	0.73372	2.23	0.24800	N	0.992706	P	0.52692	0.955	P	0.56788	0.806	T	0.18524	-1.0334	10	0.87932	D	0	-11.1876	9.5817	0.39493	0.0:0.908:0.0:0.092	.	209	Q7Z3I7	ZN572_HUMAN	N	209	ENSP00000319305:T209N	ENSP00000319305:T209N	T	+	2	0	ZNF572	126058317	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.062000	0.11674	2.709000	0.92574	0.655000	0.94253	ACT	ZNF572	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180938		0.458	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1	-	0.00	35	0	C	NM_152412		125989136	+1	tier1	-	no_errors	ENST00000319286	ensembl	human	known	74_37	missense	23.53	39	12	SNP	0.990	A
ZNF572	137209	genome.wustl.edu	37	8	125989136	125989136	+	Missense_Mutation	SNP	C	C	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:125989136C>A	ENST00000319286.5	+	3	780	c.626C>A	c.(625-627)aCt>aAt	p.T209N		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATGAGAGAACTCACACGGGA	0.458										HNSCC(60;0.17)																																							0													78.0	81.0	80.0					8																	125989136		2203	4300	6503	SO:0001583	missense	0			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.626C>A	8.37:g.125989136C>A	ENSP00000319305:p.Thr209Asn		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T209N	ENST00000319286.5	37	c.626	CCDS6354.1	8	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752466	0.49362	.	.	ENSG00000180938	ENST00000319286	T	0.01025	5.43	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000107	T	0.03263	0.0095	M	0.73372	2.23	0.24800	N	0.992706	P	0.52692	0.955	P	0.56788	0.806	T	0.18524	-1.0334	10	0.87932	D	0	-11.1876	9.5817	0.39493	0.0:0.908:0.0:0.092	.	209	Q7Z3I7	ZN572_HUMAN	N	209	ENSP00000319305:T209N	ENSP00000319305:T209N	T	+	2	0	ZNF572	126058317	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.062000	0.11674	2.709000	0.92574	0.655000	0.94253	ACT	ZNF572	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180938		0.458	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1	-	0.00	59	0	C	NM_152412		125989136	+1	tier1	-	no_errors	ENST00000319286	ensembl	human	known	74_37	missense	23.53	39	12	SNP	0.990	A
ZNF615	284370	genome.wustl.edu	37	19	52505106	52505106	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:52505106A>G	ENST00000602063.1	-	5	547	c.198T>C	c.(196-198)acT>acC	p.T66T	ZNF615_ENST00000597747.1_Silent_p.T66T|ZNF615_ENST00000598071.1_Silent_p.T66T|ZNF615_ENST00000595114.1_5'Flank|ZNF615_ENST00000376716.5_Silent_p.T66T|ZNF615_ENST00000391795.3_Silent_p.T71T|ZNF615_ENST00000594083.1_Silent_p.T66T			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTGTTGTGCAAGTTTCTTCTC	0.483																																																	0													181.0	137.0	152.0					19																	52505106		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.198T>C	19.37:g.52505106A>G			B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T66	ENST00000602063.1	37	c.198	CCDS12846.1	19																																																																																			ZNF615	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197619		0.483	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	-	0.00	100	0	A	NM_198480		52505106	-1	tier1	-	no_errors	ENST00000594083	ensembl	human	known	74_37	silent	8.20	56	5	SNP	0.000	G
ZNF615	284370	genome.wustl.edu	37	19	52505106	52505106	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:52505106A>G	ENST00000602063.1	-	5	547	c.198T>C	c.(196-198)acT>acC	p.T66T	ZNF615_ENST00000597747.1_Silent_p.T66T|ZNF615_ENST00000598071.1_Silent_p.T66T|ZNF615_ENST00000595114.1_5'Flank|ZNF615_ENST00000376716.5_Silent_p.T66T|ZNF615_ENST00000391795.3_Silent_p.T71T|ZNF615_ENST00000594083.1_Silent_p.T66T			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTGTTGTGCAAGTTTCTTCTC	0.483																																																	0													181.0	137.0	152.0					19																	52505106		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.198T>C	19.37:g.52505106A>G			B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T66	ENST00000602063.1	37	c.198	CCDS12846.1	19																																																																																			ZNF615	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197619		0.483	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	-	0.00	63	0	A	NM_198480		52505106	-1	tier1	-	no_errors	ENST00000594083	ensembl	human	known	74_37	silent	8.20	56	5	SNP	0.000	G
ZNF616	90317	genome.wustl.edu	37	19	52620093	52620093	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:52620093A>G	ENST00000600228.1	-	4	585	c.324T>C	c.(322-324)gaT>gaC	p.D108D	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GCACTTCTTTATCATTTGTTT	0.333																																																	0													195.0	176.0	183.0					19																	52620093		2202	4300	6502	SO:0001819	synonymous_variant	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.324T>C	19.37:g.52620093A>G			B3KRV1|Q0P658|Q658V7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D108	ENST00000600228.1	37	c.324	CCDS33090.1	19																																																																																			ZNF616	-	NULL	ENSG00000204611		0.333	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	-	0.00	60	0	A	XM_030892		52620093	-1	tier1	-	no_errors	ENST00000600228	ensembl	human	known	74_37	silent	18.03	50	11	SNP	0.004	G
ZNF616	90317	genome.wustl.edu	37	19	52620093	52620093	+	Silent	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:52620093A>G	ENST00000600228.1	-	4	585	c.324T>C	c.(322-324)gaT>gaC	p.D108D	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GCACTTCTTTATCATTTGTTT	0.333																																																	0													195.0	176.0	183.0					19																	52620093		2202	4300	6502	SO:0001819	synonymous_variant	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.324T>C	19.37:g.52620093A>G			B3KRV1|Q0P658|Q658V7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D108	ENST00000600228.1	37	c.324	CCDS33090.1	19																																																																																			ZNF616	-	NULL	ENSG00000204611		0.333	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	-	0.00	87	0	A	XM_030892		52620093	-1	tier1	-	no_errors	ENST00000600228	ensembl	human	known	74_37	silent	18.03	50	11	SNP	0.004	G
ZNF600	162966	genome.wustl.edu	37	19	53269900	53269900	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:53269900T>A	ENST00000338230.3	-	3	1376	c.1109A>T	c.(1108-1110)aAg>aTg	p.K370M		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AAGGGATGACTTGTGACTGAA	0.418																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0													158.0	151.0	154.0					19																	53269900		2203	4300	6503	SO:0001583	missense	0			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1109A>T	19.37:g.53269900T>A	ENSP00000344791:p.Lys370Met		Q6MZR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K370M	ENST00000338230.3	37	c.1109	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	3.934	-0.015486	0.07681	.	.	ENSG00000189190	ENST00000338230	T	0.36157	1.27	1.58	-0.939	0.10408	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22003	0.0530	L	0.31845	0.965	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21109	-1.0255	9	0.34782	T	0.22	.	3.8782	0.09066	0.0:0.1541:0.218:0.6279	.	370	Q6ZNG1	ZN600_HUMAN	M	370	ENSP00000344791:K370M	ENSP00000344791:K370M	K	-	2	0	ZNF600	57961712	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.798000	0.00762	-0.100000	0.12241	0.254000	0.18369	AAG	ZNF600	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189190		0.418	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1	-	0.00	127	0	T	NM_198457		53269900	-1	tier1	-	no_errors	ENST00000338230	ensembl	human	known	74_37	missense	7.62	97	8	SNP	0.000	A
ZNF600	162966	genome.wustl.edu	37	19	53269900	53269900	+	Missense_Mutation	SNP	T	T	A			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:53269900T>A	ENST00000338230.3	-	3	1376	c.1109A>T	c.(1108-1110)aAg>aTg	p.K370M		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AAGGGATGACTTGTGACTGAA	0.418																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0													158.0	151.0	154.0					19																	53269900		2203	4300	6503	SO:0001583	missense	0			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1109A>T	19.37:g.53269900T>A	ENSP00000344791:p.Lys370Met		Q6MZR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K370M	ENST00000338230.3	37	c.1109	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	3.934	-0.015486	0.07681	.	.	ENSG00000189190	ENST00000338230	T	0.36157	1.27	1.58	-0.939	0.10408	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22003	0.0530	L	0.31845	0.965	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21109	-1.0255	9	0.34782	T	0.22	.	3.8782	0.09066	0.0:0.1541:0.218:0.6279	.	370	Q6ZNG1	ZN600_HUMAN	M	370	ENSP00000344791:K370M	ENSP00000344791:K370M	K	-	2	0	ZNF600	57961712	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.798000	0.00762	-0.100000	0.12241	0.254000	0.18369	AAG	ZNF600	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189190		0.418	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1	-	0.00	86	0	T	NM_198457		53269900	-1	tier1	-	no_errors	ENST00000338230	ensembl	human	known	74_37	missense	7.62	97	8	SNP	0.000	A
ZNF646	9726	genome.wustl.edu	37	16	31093027	31093027	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:31093027G>T	ENST00000394979.2	+	1	5805	c.5382G>T	c.(5380-5382)agG>agT	p.R1794S	ZNF646_ENST00000300850.5_Intron			O15015	ZN646_HUMAN	zinc finger protein 646	1794					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCTCCGGTAGGGGGCATGAAG	0.677																																																	0													8.0	10.0	10.0					16																	31093027		1924	3793	5717	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5382G>T	16.37:g.31093027G>T	ENSP00000378429:p.Arg1794Ser		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1794S	ENST00000394979.2	37	c.5382		16	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803348	0.31869	.	.	ENSG00000167395	ENST00000394979	T	0.08370	3.1	5.34	0.259	0.15583	.	.	.	.	.	T	0.08935	0.0221	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.34004	-0.9846	6	0.51188	T	0.08	.	5.6248	0.17477	0.0884:0.1886:0.5929:0.1301	.	.	.	.	S	1794	ENSP00000378429:R1794S	ENSP00000378429:R1794S	R	+	3	2	ZNF646	31000528	0.997000	0.39634	0.509000	0.27700	0.629000	0.37895	0.366000	0.20365	0.192000	0.20272	0.655000	0.94253	AGG	ZNF646	-	NULL	ENSG00000167395		0.677	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0.00	104	0	G	NM_014699		31093027	+1	tier1	-	no_errors	ENST00000394979	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.396	T
ZNF646	9726	genome.wustl.edu	37	16	31093027	31093027	+	Missense_Mutation	SNP	G	G	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:31093027G>T	ENST00000394979.2	+	1	5805	c.5382G>T	c.(5380-5382)agG>agT	p.R1794S	ZNF646_ENST00000300850.5_Intron			O15015	ZN646_HUMAN	zinc finger protein 646	1794					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCTCCGGTAGGGGGCATGAAG	0.677																																																	0													8.0	10.0	10.0					16																	31093027		1924	3793	5717	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5382G>T	16.37:g.31093027G>T	ENSP00000378429:p.Arg1794Ser		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1794S	ENST00000394979.2	37	c.5382		16	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803348	0.31869	.	.	ENSG00000167395	ENST00000394979	T	0.08370	3.1	5.34	0.259	0.15583	.	.	.	.	.	T	0.08935	0.0221	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.34004	-0.9846	6	0.51188	T	0.08	.	5.6248	0.17477	0.0884:0.1886:0.5929:0.1301	.	.	.	.	S	1794	ENSP00000378429:R1794S	ENSP00000378429:R1794S	R	+	3	2	ZNF646	31000528	0.997000	0.39634	0.509000	0.27700	0.629000	0.37895	0.366000	0.20365	0.192000	0.20272	0.655000	0.94253	AGG	ZNF646	-	NULL	ENSG00000167395		0.677	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0.00	107	0	G	NM_014699		31093027	+1	tier1	-	no_errors	ENST00000394979	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.396	T
ZNF662	389114	genome.wustl.edu	37	3	42956638	42956638	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:42956638A>G	ENST00000541208.1	+	5	1442	c.1073A>G	c.(1072-1074)aAg>aGg	p.K358R	ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.K358R|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.K384R			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACTGGGGACAAGCCTCATGAA	0.463																																																	0													86.0	85.0	85.0					3																	42956638		2203	4300	6503	SO:0001583	missense	0			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1073A>G	3.37:g.42956638A>G	ENSP00000446208:p.Lys358Arg		A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	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.K384R	ENST00000541208.1	37	c.1151	CCDS2708.1	3	.	.	.	.	.	.	.	.	.	.	A	13.54	2.268829	0.40095	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.24908	1.83;1.83;1.83	3.27	2.07	0.26955	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	N	0.12920	0.275	0.28225	N	0.926355	B;B	0.27823	0.158;0.19	B;B	0.39562	0.201;0.303	T	0.35450	-0.9788	9	0.59425	D	0.04	.	7.0664	0.25154	0.7977:0.0:0.0:0.2023	.	384;358	F8W7S8;Q6ZS27	.;ZN662_HUMAN	R	358;384;358	ENSP00000405047:K358R;ENSP00000329264:K384R;ENSP00000446208:K358R	ENSP00000329264:K384R	K	+	2	0	ZNF662	42931642	0.565000	0.26610	1.000000	0.80357	0.978000	0.69477	1.226000	0.32563	0.453000	0.26858	0.528000	0.53228	AAG	ZNF662	-	pfscan_Znf_C2H2	ENSG00000182983		0.463	ZNF662-201	KNOWN	basic|CCDS	protein_coding	ZNF662	HGNC	protein_coding	OTTHUMT00000256646.4	-	0.00	29	0	A	NM_207404		42956638	+1	tier1	-	no_errors	ENST00000328199	ensembl	human	known	74_37	missense	40.43	28	19	SNP	1.000	G
ZNF662	389114	genome.wustl.edu	37	3	42956638	42956638	+	Missense_Mutation	SNP	A	A	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:42956638A>G	ENST00000541208.1	+	5	1442	c.1073A>G	c.(1072-1074)aAg>aGg	p.K358R	ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.K358R|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.K384R			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACTGGGGACAAGCCTCATGAA	0.463																																																	0													86.0	85.0	85.0					3																	42956638		2203	4300	6503	SO:0001583	missense	0			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1073A>G	3.37:g.42956638A>G	ENSP00000446208:p.Lys358Arg		A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	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.K384R	ENST00000541208.1	37	c.1151	CCDS2708.1	3	.	.	.	.	.	.	.	.	.	.	A	13.54	2.268829	0.40095	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.24908	1.83;1.83;1.83	3.27	2.07	0.26955	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	N	0.12920	0.275	0.28225	N	0.926355	B;B	0.27823	0.158;0.19	B;B	0.39562	0.201;0.303	T	0.35450	-0.9788	9	0.59425	D	0.04	.	7.0664	0.25154	0.7977:0.0:0.0:0.2023	.	384;358	F8W7S8;Q6ZS27	.;ZN662_HUMAN	R	358;384;358	ENSP00000405047:K358R;ENSP00000329264:K384R;ENSP00000446208:K358R	ENSP00000329264:K384R	K	+	2	0	ZNF662	42931642	0.565000	0.26610	1.000000	0.80357	0.978000	0.69477	1.226000	0.32563	0.453000	0.26858	0.528000	0.53228	AAG	ZNF662	-	pfscan_Znf_C2H2	ENSG00000182983		0.463	ZNF662-201	KNOWN	basic|CCDS	protein_coding	ZNF662	HGNC	protein_coding	OTTHUMT00000256646.4	-	0.00	50	0	A	NM_207404		42956638	+1	tier1	-	no_errors	ENST00000328199	ensembl	human	known	74_37	missense	40.43	28	19	SNP	1.000	G
ZNF729	100287226	genome.wustl.edu	37	19	22498243	22498243	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:22498243A>C	ENST00000601693.1	+	4	2142	c.2024A>C	c.(2023-2025)aAg>aCg	p.K675T	ZNF729_ENST00000357491.6_Missense_Mutation_p.K675T			A6NN14	ZN729_HUMAN	zinc finger protein 729	675					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						AGAAGACATAAGATAATTCAT	0.368																																																	0																																										SO:0001583	missense	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.2024A>C	19.37:g.22498243A>C	ENSP00000469582:p.Lys675Thr		M0QY45	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.K675T	ENST00000601693.1	37	c.2024	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	11.16	1.556725	0.27827	.	.	ENSG00000196350	ENST00000357491	T	0.51817	0.69	0.996	0.996	0.19844	.	.	.	.	.	T	0.31888	0.0811	N	0.16016	0.355	.	.	.	.	.	.	.	.	.	T	0.41106	-0.9527	6	0.54805	T	0.06	.	6.8976	0.24265	1.0:0.0:0.0:0.0	.	.	.	.	T	675	ENSP00000350085:K675T	ENSP00000350085:K675T	K	+	2	0	ZNF729	22290083	0.000000	0.05858	0.024000	0.17045	0.021000	0.10359	-0.030000	0.12308	0.352000	0.24053	0.341000	0.21757	AAG	ZNF729	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196350		0.368	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	-	0.00	59	0	A	XM_496301		22498243	+1	tier1	-	no_errors	ENST00000601693	ensembl	human	novel	74_37	missense	23.86	66	21	SNP	0.996	C
ZNF681	148213	genome.wustl.edu	37	19	23928012	23928012	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:23928012T>G	ENST00000402377.3	-	4	481	c.340A>C	c.(340-342)Agt>Cgt	p.S114R	ZNF681_ENST00000395385.3_Missense_Mutation_p.S45R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACACTTTTACTTAACTGTAAA	0.343																																																	0													53.0	51.0	51.0					19																	23928012		2203	4298	6501	SO:0001583	missense	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.340A>C	19.37:g.23928012T>G	ENSP00000384000:p.Ser114Arg		B3KVF7	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.S114R	ENST00000402377.3	37	c.340	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.122354	0.00346	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.06068	3.4;3.35;6.13;6.47	0.886	0.886	0.19194	.	.	.	.	.	T	0.00845	0.0028	N	0.00020	-2.77	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.05959	T	0.93	.	5.595	0.17321	0.0:0.0:0.0:1.0	.	114	Q96N22	ZN681_HUMAN	R	114;45;45;45	ENSP00000384000:S114R;ENSP00000378783:S45R;ENSP00000433806:S45R;ENSP00000435824:S45R	ENSP00000378783:S45R	S	-	1	0	ZNF681	23719852	0.000000	0.05858	0.031000	0.17742	0.023000	0.10783	-0.614000	0.05604	0.257000	0.21650	0.254000	0.18369	AGT	ZNF681	-	NULL	ENSG00000196172		0.343	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0.00	107	0	T	NM_138286		23928012	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	48.28	45	42	SNP	0.019	G
ZNF681	148213	genome.wustl.edu	37	19	23928012	23928012	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:23928012T>G	ENST00000402377.3	-	4	481	c.340A>C	c.(340-342)Agt>Cgt	p.S114R	ZNF681_ENST00000395385.3_Missense_Mutation_p.S45R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACACTTTTACTTAACTGTAAA	0.343																																																	0													53.0	51.0	51.0					19																	23928012		2203	4298	6501	SO:0001583	missense	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.340A>C	19.37:g.23928012T>G	ENSP00000384000:p.Ser114Arg		B3KVF7	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.S114R	ENST00000402377.3	37	c.340	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.122354	0.00346	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.06068	3.4;3.35;6.13;6.47	0.886	0.886	0.19194	.	.	.	.	.	T	0.00845	0.0028	N	0.00020	-2.77	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.05959	T	0.93	.	5.595	0.17321	0.0:0.0:0.0:1.0	.	114	Q96N22	ZN681_HUMAN	R	114;45;45;45	ENSP00000384000:S114R;ENSP00000378783:S45R;ENSP00000433806:S45R;ENSP00000435824:S45R	ENSP00000378783:S45R	S	-	1	0	ZNF681	23719852	0.000000	0.05858	0.031000	0.17742	0.023000	0.10783	-0.614000	0.05604	0.257000	0.21650	0.254000	0.18369	AGT	ZNF681	-	NULL	ENSG00000196172		0.343	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0.00	59	0	T	NM_138286		23928012	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	48.28	45	42	SNP	0.019	G
ZNF733P	643955	genome.wustl.edu	37	7	62752733	62752733	+	RNA	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:62752733C>T	ENST00000331425.6	-	0	702					NR_003952.1				zinc finger protein 733, pseudogene																		TGCCACATTCCTCACATCTAT	0.403																																																	0																																												0					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752733C>T				RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-	ENSG00000185037		0.403	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	-	0.00	92	0	C			62752733	-1	tier1	-	no_errors	ENST00000331425	ensembl	human	known	74_37	rna	6.96	107	8	SNP	0.055	T
ZNF747	65988	genome.wustl.edu	37	16	30545589	30545590	+	Nonsense_Mutation	DNP	TC	TC	AA			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:30545589_30545590TC>AA	ENST00000252799.3	-	1	1078_1079	c.411_412GA>TT	c.(409-414)agGAga>agTTga	p.137_138RR>S*	ZNF747_ENST00000569360.1_Missense_Mutation_p.E91L|ZNF747_ENST00000568028.1_Missense_Mutation_p.E91L|ZNF747_ENST00000395094.3_Nonsense_Mutation_p.137_138RR>S*|AC002310.13_ENST00000568114.1_Missense_Mutation_p.E80L|ZNF747_ENST00000535210.1_Missense_Mutation_p.E91L|AC002310.12_ENST00000457283.3_RNA|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	137	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						TTCGGCCTTCTCCTCCACCCAG	0.688																																																	0																																										SO:0001587	stop_gained	0			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.411_412delinsAA	16.37:g.30545589_30545590delinsAA	ENSP00000252799:p.R137_R138delinsS*		A8K827|B7WNU3|Q59FB4|Q96NW0	Nonsense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box|pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R138*|p.E91*	ENST00000252799.3	37	c.412|c.271	CCDS10682.1	16																																																																																			ZNF747	-	pfscan_Krueppel-associated_box|superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000169955		0.688	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	ZNF747	HGNC	protein_coding	OTTHUMT00000255532.2	-	0.00	36|37	0	T|C	NM_023931		30545589|30545590	-1	tier1	-	no_errors	ENST00000252799|ENST00000535210	ensembl	human	known	74_37	nonsense	12.50	35	5	SNP	0.009	A
ZNF747	65988	genome.wustl.edu	37	16	30545589	30545590	+	Nonsense_Mutation	DNP	TC	TC	AA			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:30545589_30545590TC>AA	ENST00000252799.3	-	1	1078_1079	c.411_412GA>TT	c.(409-414)agGAga>agTTga	p.137_138RR>S*	ZNF747_ENST00000569360.1_Missense_Mutation_p.E91L|ZNF747_ENST00000568028.1_Missense_Mutation_p.E91L|ZNF747_ENST00000395094.3_Nonsense_Mutation_p.137_138RR>S*|AC002310.13_ENST00000568114.1_Missense_Mutation_p.E80L|ZNF747_ENST00000535210.1_Missense_Mutation_p.E91L|AC002310.12_ENST00000457283.3_RNA|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	137	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						TTCGGCCTTCTCCTCCACCCAG	0.688																																																	0																																										SO:0001587	stop_gained	0			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.411_412delinsAA	16.37:g.30545589_30545590delinsAA	ENSP00000252799:p.R137_R138delinsS*		A8K827|B7WNU3|Q59FB4|Q96NW0	Nonsense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box|pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R138*|p.E91*	ENST00000252799.3	37	c.412|c.271	CCDS10682.1	16																																																																																			ZNF747	-	pfscan_Krueppel-associated_box|superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000169955		0.688	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	ZNF747	HGNC	protein_coding	OTTHUMT00000255532.2	-	0.00	36|53	0	T|C	NM_023931		30545589|30545590	-1	tier1	-	no_errors	ENST00000252799|ENST00000535210	ensembl	human	known	74_37	nonsense	12.50	35	5	SNP	0.009	A
ZNF747	65988	genome.wustl.edu	37	16	30545589	30545590	+	Nonsense_Mutation	DNP	TC	TC	AA			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:30545589_30545590TC>AA	ENST00000252799.3	-	1	1078_1079	c.411_412GA>TT	c.(409-414)agGAga>agTTga	p.137_138RR>S*	ZNF747_ENST00000569360.1_Missense_Mutation_p.E91L|ZNF747_ENST00000568028.1_Missense_Mutation_p.E91L|ZNF747_ENST00000395094.3_Nonsense_Mutation_p.137_138RR>S*|AC002310.13_ENST00000568114.1_Missense_Mutation_p.E80L|ZNF747_ENST00000535210.1_Missense_Mutation_p.E91L|AC002310.12_ENST00000457283.3_RNA|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	137	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						TTCGGCCTTCTCCTCCACCCAG	0.688																																																	0																																										SO:0001587	stop_gained	0			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.411_412delinsAA	16.37:g.30545589_30545590delinsAA	ENSP00000252799:p.R137_R138delinsS*		A8K827|B7WNU3|Q59FB4|Q96NW0	Nonsense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box|pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R138*|p.E91*	ENST00000252799.3	37	c.412|c.271	CCDS10682.1	16																																																																																			ZNF747	-	pfscan_Krueppel-associated_box|superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000169955		0.688	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	ZNF747	HGNC	protein_coding	OTTHUMT00000255532.2	-	0.00	54|37	0	T|C	NM_023931		30545589|30545590	-1	tier1	-	no_errors	ENST00000252799|ENST00000535210	ensembl	human	known	74_37	nonsense	12.50	35	5	SNP	0.009	A
ZNF747	65988	genome.wustl.edu	37	16	30545589	30545590	+	Nonsense_Mutation	DNP	TC	TC	AA			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:30545589_30545590TC>AA	ENST00000252799.3	-	1	1078_1079	c.411_412GA>TT	c.(409-414)agGAga>agTTga	p.137_138RR>S*	ZNF747_ENST00000569360.1_Missense_Mutation_p.E91L|ZNF747_ENST00000568028.1_Missense_Mutation_p.E91L|ZNF747_ENST00000395094.3_Nonsense_Mutation_p.137_138RR>S*|AC002310.13_ENST00000568114.1_Missense_Mutation_p.E80L|ZNF747_ENST00000535210.1_Missense_Mutation_p.E91L|AC002310.12_ENST00000457283.3_RNA|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	137	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						TTCGGCCTTCTCCTCCACCCAG	0.688																																																	0																																										SO:0001587	stop_gained	0			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.411_412delinsAA	16.37:g.30545589_30545590delinsAA	ENSP00000252799:p.R137_R138delinsS*		A8K827|B7WNU3|Q59FB4|Q96NW0	Nonsense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box|pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R138*|p.E91*	ENST00000252799.3	37	c.412|c.271	CCDS10682.1	16																																																																																			ZNF747	-	pfscan_Krueppel-associated_box|superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000169955		0.688	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	ZNF747	HGNC	protein_coding	OTTHUMT00000255532.2	-	0.00	54|53	0	T|C	NM_023931		30545589|30545590	-1	tier1	-	no_errors	ENST00000252799|ENST00000535210	ensembl	human	known	74_37	nonsense	12.50	35	5	SNP	0.009	A
ZNF772	400720	genome.wustl.edu	37	19	57984884	57984884	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:57984884C>T	ENST00000343280.4	-	5	1488	c.1228G>A	c.(1228-1230)Gca>Aca	p.A410T	ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000427512.2_Missense_Mutation_p.A298T|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.A369T|AC004076.9_ENST00000596831.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TTCCCACATGCGATGCACTCA	0.418																																					Melanoma(5;289 436 14293 15924 30817)												0													128.0	114.0	119.0					19																	57984884		2203	4300	6503	SO:0001583	missense	0			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.1228G>A	19.37:g.57984884C>T	ENSP00000341165:p.Ala410Thr		A6NJK9|B4DH56|B4DYS0	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.A410T	ENST00000343280.4	37	c.1228	CCDS33133.1	19	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405653	0.62288	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	T;T;T	0.07567	3.18;3.18;3.18	3.72	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.03084	-0.415	0.34007	D	0.651021	B;P;D	0.76494	0.401;0.665;0.999	B;B;D	0.83275	0.073;0.12;0.996	T	0.37197	-0.9716	9	0.87932	D	0	.	9.3404	0.38076	0.0:0.8855:0.0:0.1145	.	298;369;410	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	T	410;298;369;335	ENSP00000341165:A410T;ENSP00000395967:A298T;ENSP00000348992:A369T	ENSP00000291809:A335T	A	-	1	0	ZNF772	62676696	0.000000	0.05858	1.000000	0.80357	0.913000	0.54294	-0.320000	0.08028	1.917000	0.55516	0.305000	0.20034	GCA	ZNF772	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197128		0.418	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	HGNC	protein_coding	OTTHUMT00000397447.1	-	0.00	72	0	C	NM_001024596		57984884	-1	tier1	-	no_errors	ENST00000343280	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.498	T
ZNF804B	219578	genome.wustl.edu	37	7	88964359	88964359	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:88964359T>C	ENST00000333190.4	+	4	2672	c.2063T>C	c.(2062-2064)gTt>gCt	p.V688A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	688							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCAGCAAGGTTTCCGGATGT	0.453										HNSCC(36;0.09)																																							0													80.0	78.0	78.0					7																	88964359		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2063T>C	7.37:g.88964359T>C	ENSP00000329638:p.Val688Ala		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.V688A	ENST00000333190.4	37	c.2063	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.991082	0.00439	.	.	ENSG00000182348	ENST00000333190	T	0.04502	3.61	4.95	-3.53	0.04667	.	1.458410	0.03956	N	0.289242	T	0.02230	0.0069	N	0.04203	-0.255	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45086	-0.9285	10	0.15066	T	0.55	-0.0052	5.6578	0.17652	0.0996:0.5168:0.0926:0.291	.	688	A4D1E1	Z804B_HUMAN	A	688	ENSP00000329638:V688A	ENSP00000329638:V688A	V	+	2	0	ZNF804B	88802295	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.469000	0.02348	-0.796000	0.04456	0.454000	0.30748	GTT	ZNF804B	-	NULL	ENSG00000182348		0.453	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0.00	38	0	T	NM_181646		88964359	+1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	38.00	31	19	SNP	0.000	C
ZNF804B	219578	genome.wustl.edu	37	7	88964359	88964359	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:88964359T>C	ENST00000333190.4	+	4	2672	c.2063T>C	c.(2062-2064)gTt>gCt	p.V688A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	688							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCAGCAAGGTTTCCGGATGT	0.453										HNSCC(36;0.09)																																							0													80.0	78.0	78.0					7																	88964359		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2063T>C	7.37:g.88964359T>C	ENSP00000329638:p.Val688Ala		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.V688A	ENST00000333190.4	37	c.2063	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.991082	0.00439	.	.	ENSG00000182348	ENST00000333190	T	0.04502	3.61	4.95	-3.53	0.04667	.	1.458410	0.03956	N	0.289242	T	0.02230	0.0069	N	0.04203	-0.255	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45086	-0.9285	10	0.15066	T	0.55	-0.0052	5.6578	0.17652	0.0996:0.5168:0.0926:0.291	.	688	A4D1E1	Z804B_HUMAN	A	688	ENSP00000329638:V688A	ENSP00000329638:V688A	V	+	2	0	ZNF804B	88802295	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.469000	0.02348	-0.796000	0.04456	0.454000	0.30748	GTT	ZNF804B	-	NULL	ENSG00000182348		0.453	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0.00	48	0	T	NM_181646		88964359	+1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	38.00	31	19	SNP	0.000	C
ZNF826P	664701	genome.wustl.edu	37	19	20607676	20607676	+	RNA	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:20607676C>T	ENST00000502675.1	-	0	86					NR_036455.1		Q6ZT77	ZN826_HUMAN	zinc finger protein 826, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(4)	4						GGCTGGGCCTCTATGAGCAGA	0.567																																																	0																																												0			BC016785		19p12	2010-08-03	2010-08-03	2010-08-03	ENSG00000231205	ENSG00000231205			33875	pseudogene	pseudogene			"""zinc finger protein 826"""	ZNF826			Standard	NR_036455		Approved	FLJ44894	uc021urn.2	Q6ZT77	OTTHUMG00000162773		19.37:g.20607676C>T				RNA	SNP	-	NULL	ENST00000502675.1	37	NULL		19																																																																																			ZNF826P	-	-	ENSG00000231205		0.567	ZNF826P-001	KNOWN	basic	processed_transcript	ZNF826P	HGNC	pseudogene	OTTHUMT00000370365.1	-	0.00	102	0	C	NM_001039884		20607676	-1	tier1	-	no_errors	ENST00000502675	ensembl	human	known	74_37	rna	14.94	74	13	SNP	0.002	T
ZNF826P	664701	genome.wustl.edu	37	19	20607676	20607676	+	RNA	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:20607676C>T	ENST00000502675.1	-	0	86					NR_036455.1		Q6ZT77	ZN826_HUMAN	zinc finger protein 826, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(4)	4						GGCTGGGCCTCTATGAGCAGA	0.567																																																	0																																												0			BC016785		19p12	2010-08-03	2010-08-03	2010-08-03	ENSG00000231205	ENSG00000231205			33875	pseudogene	pseudogene			"""zinc finger protein 826"""	ZNF826			Standard	NR_036455		Approved	FLJ44894	uc021urn.2	Q6ZT77	OTTHUMG00000162773		19.37:g.20607676C>T				RNA	SNP	-	NULL	ENST00000502675.1	37	NULL		19																																																																																			ZNF826P	-	-	ENSG00000231205		0.567	ZNF826P-001	KNOWN	basic	processed_transcript	ZNF826P	HGNC	pseudogene	OTTHUMT00000370365.1	-	0.00	125	0	C	NM_001039884		20607676	-1	tier1	-	no_errors	ENST00000502675	ensembl	human	known	74_37	rna	14.94	74	13	SNP	0.002	T
ZNF85	7639	genome.wustl.edu	37	19	21132738	21132738	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:21132738A>C	ENST00000328178.8	+	4	1531	c.1418A>C	c.(1417-1419)aAg>aCg	p.K473T	ZNF85_ENST00000345030.6_Missense_Mutation_p.K440T|ZNF85_ENST00000601023.1_Missense_Mutation_p.K414T	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	473					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						ACTAGACATAAGAAAAGTCAT	0.343																																																	0													25.0	26.0	26.0					19																	21132738		2200	4294	6494	SO:0001583	missense	0			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1418A>C	19.37:g.21132738A>C	ENSP00000329793:p.Lys473Thr		B9ZVP4|Q6NVI0	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.K473T	ENST00000328178.8	37	c.1418	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	4.754	0.140157	0.09083	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.51817	0.69;0.69	1.35	0.105	0.14535	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52837	0.1759	L	0.49571	1.57	0.34613	D	0.717794	D;B;P	0.69078	0.997;0.051;0.555	D;B;P	0.74674	0.984;0.079;0.535	T	0.59490	-0.7445	9	0.72032	D	0.01	.	2.0098	0.03485	0.5508:0.0:0.1882:0.2611	.	440;414;473	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	T	473;440;348	ENSP00000329793:K473T;ENSP00000342340:K440T	ENSP00000329793:K473T	K	+	2	0	ZNF85	20924578	0.000000	0.05858	0.037000	0.18230	0.031000	0.12232	0.454000	0.21827	-0.196000	0.10366	0.379000	0.24179	AAG	ZNF85	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105750		0.343	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	-	0.00	51	0	A	NM_003429		21132738	+1	tier1	-	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	23.33	46	14	SNP	0.643	C
ZNF85	7639	genome.wustl.edu	37	19	21132738	21132738	+	Missense_Mutation	SNP	A	A	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:21132738A>C	ENST00000328178.8	+	4	1531	c.1418A>C	c.(1417-1419)aAg>aCg	p.K473T	ZNF85_ENST00000345030.6_Missense_Mutation_p.K440T|ZNF85_ENST00000601023.1_Missense_Mutation_p.K414T	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	473					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						ACTAGACATAAGAAAAGTCAT	0.343																																																	0													25.0	26.0	26.0					19																	21132738		2200	4294	6494	SO:0001583	missense	0			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1418A>C	19.37:g.21132738A>C	ENSP00000329793:p.Lys473Thr		B9ZVP4|Q6NVI0	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.K473T	ENST00000328178.8	37	c.1418	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	4.754	0.140157	0.09083	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.51817	0.69;0.69	1.35	0.105	0.14535	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52837	0.1759	L	0.49571	1.57	0.34613	D	0.717794	D;B;P	0.69078	0.997;0.051;0.555	D;B;P	0.74674	0.984;0.079;0.535	T	0.59490	-0.7445	9	0.72032	D	0.01	.	2.0098	0.03485	0.5508:0.0:0.1882:0.2611	.	440;414;473	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	T	473;440;348	ENSP00000329793:K473T;ENSP00000342340:K440T	ENSP00000329793:K473T	K	+	2	0	ZNF85	20924578	0.000000	0.05858	0.037000	0.18230	0.031000	0.12232	0.454000	0.21827	-0.196000	0.10366	0.379000	0.24179	AAG	ZNF85	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105750		0.343	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	-	0.00	72	0	A	NM_003429		21132738	+1	tier1	-	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	23.33	46	14	SNP	0.643	C
ZNF99	7652	genome.wustl.edu	37	19	22951136	22951136	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:22951136T>G	ENST00000596209.1	-	3	287	c.197A>C	c.(196-198)aAg>aCg	p.K66T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K87T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTCATGTCTCTTCATATTCCA	0.383																																																	0													58.0	62.0	61.0					19																	22951136		2174	4291	6465	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.197A>C	19.37:g.22951136T>G	ENSP00000472969:p.Lys66Thr		M0R335	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.K87T	ENST00000596209.1	37	c.260	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	t	5.519	0.280654	0.10458	.	.	ENSG00000213973	ENST00000397104	T	0.06449	3.3	0.428	-0.855	0.10700	Krueppel-associated box (1);	.	.	.	.	T	0.14184	0.0343	M	0.66439	2.03	0.09310	N	1	D	0.71674	0.998	D	0.67900	0.954	T	0.22382	-1.0218	8	0.15499	T	0.54	.	.	.	.	.	87	A8MXY4	ZNF99_HUMAN	T	87	ENSP00000380293:K87T	ENSP00000380293:K87T	K	-	2	0	ZNF99	22742976	0.001000	0.12720	0.079000	0.20413	0.076000	0.17211	0.164000	0.16542	-0.593000	0.05844	-0.611000	0.04053	AAG	ZNF99	-	pfscan_Krueppel-associated_box	ENSG00000213973		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0.00	118	0	T	XM_065124		22951136	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	37.90	77	47	SNP	0.104	G
ZNF99	7652	genome.wustl.edu	37	19	22951136	22951136	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:22951136T>G	ENST00000596209.1	-	3	287	c.197A>C	c.(196-198)aAg>aCg	p.K66T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K87T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTCATGTCTCTTCATATTCCA	0.383																																																	0													58.0	62.0	61.0					19																	22951136		2174	4291	6465	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.197A>C	19.37:g.22951136T>G	ENSP00000472969:p.Lys66Thr		M0R335	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.K87T	ENST00000596209.1	37	c.260	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	t	5.519	0.280654	0.10458	.	.	ENSG00000213973	ENST00000397104	T	0.06449	3.3	0.428	-0.855	0.10700	Krueppel-associated box (1);	.	.	.	.	T	0.14184	0.0343	M	0.66439	2.03	0.09310	N	1	D	0.71674	0.998	D	0.67900	0.954	T	0.22382	-1.0218	8	0.15499	T	0.54	.	.	.	.	.	87	A8MXY4	ZNF99_HUMAN	T	87	ENSP00000380293:K87T	ENSP00000380293:K87T	K	-	2	0	ZNF99	22742976	0.001000	0.12720	0.079000	0.20413	0.076000	0.17211	0.164000	0.16542	-0.593000	0.05844	-0.611000	0.04053	AAG	ZNF99	-	pfscan_Krueppel-associated_box	ENSG00000213973		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0.00	190	0	T	XM_065124		22951136	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	37.90	77	47	SNP	0.104	G
ZNF880	400713	genome.wustl.edu	37	19	52887662	52887662	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:52887662T>C	ENST00000422689.2	+	4	844	c.829T>C	c.(829-831)Ttc>Ctc	p.F277L		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	277					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGGCAAAGTCTTCACTCAAAA	0.408																																																	0													62.0	57.0	59.0					19																	52887662		1568	3582	5150	SO:0001583	missense	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.829T>C	19.37:g.52887662T>C	ENSP00000406318:p.Phe277Leu		B4DNA6	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.F277L	ENST00000422689.2	37	c.829	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392033	0.62066	.	.	ENSG00000221923	ENST00000422689	T	0.46063	0.88	2.03	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67021	0.2849	M	0.90705	3.14	0.23780	N	0.996863	D	0.89917	1.0	D	0.91635	0.999	T	0.54289	-0.8316	8	.	.	.	.	8.7771	0.34769	0.0:0.0:0.0:1.0	.	277	Q6PDB4	ZN880_HUMAN	L	277	ENSP00000406318:F277L	.	F	+	1	0	ZNF880	57579474	1.000000	0.71417	0.004000	0.12327	0.037000	0.13140	6.236000	0.72339	0.918000	0.36919	0.450000	0.29827	TTC	ZNF880	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000221923		0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	-	0.00	43	0	T	NM_001145434		52887662	+1	tier1	-	no_errors	ENST00000422689	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.645	C
ZNF880	400713	genome.wustl.edu	37	19	52887662	52887662	+	Missense_Mutation	SNP	T	T	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:52887662T>C	ENST00000422689.2	+	4	844	c.829T>C	c.(829-831)Ttc>Ctc	p.F277L		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	277					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGGCAAAGTCTTCACTCAAAA	0.408																																																	0													62.0	57.0	59.0					19																	52887662		1568	3582	5150	SO:0001583	missense	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.829T>C	19.37:g.52887662T>C	ENSP00000406318:p.Phe277Leu		B4DNA6	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.F277L	ENST00000422689.2	37	c.829	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392033	0.62066	.	.	ENSG00000221923	ENST00000422689	T	0.46063	0.88	2.03	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67021	0.2849	M	0.90705	3.14	0.23780	N	0.996863	D	0.89917	1.0	D	0.91635	0.999	T	0.54289	-0.8316	8	.	.	.	.	8.7771	0.34769	0.0:0.0:0.0:1.0	.	277	Q6PDB4	ZN880_HUMAN	L	277	ENSP00000406318:F277L	.	F	+	1	0	ZNF880	57579474	1.000000	0.71417	0.004000	0.12327	0.037000	0.13140	6.236000	0.72339	0.918000	0.36919	0.450000	0.29827	TTC	ZNF880	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000221923		0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	-	0.00	71	0	T	NM_001145434		52887662	+1	tier1	-	no_errors	ENST00000422689	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.645	C
ZNF813	126017	genome.wustl.edu	37	19	53994412	53994412	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:53994412G>C	ENST00000396403.4	+	4	1054	c.926G>C	c.(925-927)aGt>aCt	p.S309T	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAAGCTTTCAGTTTCAAATCA	0.393																																																	0													70.0	77.0	75.0					19																	53994412		2192	4298	6490	SO:0001583	missense	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.926G>C	19.37:g.53994412G>C	ENSP00000379684:p.Ser309Thr			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.S309T	ENST00000396403.4	37	c.926	CCDS46172.1	19	.	.	.	.	.	.	.	.	.	.	g	8.944	0.966449	0.18659	.	.	ENSG00000198346	ENST00000396403	T	0.01981	4.52	1.28	-0.239	0.13050	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	L	0.27975	0.815	0.09310	N	1	B	0.29188	0.236	B	0.28305	0.088	T	0.49011	-0.8983	9	0.25751	T	0.34	.	7.7016	0.28625	0.0:0.5016:0.4984:0.0	.	309	Q6ZN06	ZN813_HUMAN	T	309	ENSP00000379684:S309T	ENSP00000379684:S309T	S	+	2	0	ZNF813	58686224	0.000000	0.05858	0.030000	0.17652	0.670000	0.39368	-7.482000	0.00035	-0.666000	0.05310	0.186000	0.17326	AGT	ZNF813	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198346		0.393	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	-	0.00	112	0	G	NM_001004301		53994412	+1	tier1	-	no_errors	ENST00000396403	ensembl	human	known	74_37	missense	13.92	68	11	SNP	0.000	C
ZNF813	126017	genome.wustl.edu	37	19	53994412	53994412	+	Missense_Mutation	SNP	G	G	C			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:53994412G>C	ENST00000396403.4	+	4	1054	c.926G>C	c.(925-927)aGt>aCt	p.S309T	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAAGCTTTCAGTTTCAAATCA	0.393																																																	0													70.0	77.0	75.0					19																	53994412		2192	4298	6490	SO:0001583	missense	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.926G>C	19.37:g.53994412G>C	ENSP00000379684:p.Ser309Thr			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.S309T	ENST00000396403.4	37	c.926	CCDS46172.1	19	.	.	.	.	.	.	.	.	.	.	g	8.944	0.966449	0.18659	.	.	ENSG00000198346	ENST00000396403	T	0.01981	4.52	1.28	-0.239	0.13050	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	L	0.27975	0.815	0.09310	N	1	B	0.29188	0.236	B	0.28305	0.088	T	0.49011	-0.8983	9	0.25751	T	0.34	.	7.7016	0.28625	0.0:0.5016:0.4984:0.0	.	309	Q6ZN06	ZN813_HUMAN	T	309	ENSP00000379684:S309T	ENSP00000379684:S309T	S	+	2	0	ZNF813	58686224	0.000000	0.05858	0.030000	0.17652	0.670000	0.39368	-7.482000	0.00035	-0.666000	0.05310	0.186000	0.17326	AGT	ZNF813	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198346		0.393	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	-	0.00	84	0	G	NM_001004301		53994412	+1	tier1	-	no_errors	ENST00000396403	ensembl	human	known	74_37	missense	13.92	68	11	SNP	0.000	C
ZSWIM2	151112	genome.wustl.edu	37	2	187694604	187694604	+	Missense_Mutation	SNP	T	T	G			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:187694604T>G	ENST00000295131.2	-	8	984	c.945A>C	c.(943-945)caA>caC	p.Q315H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	315					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTGTGTAAACTTGGCTGAATG	0.368																																																	0													190.0	181.0	184.0					2																	187694604		2203	4300	6503	SO:0001583	missense	0			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.945A>C	2.37:g.187694604T>G	ENSP00000295131:p.Gln315His		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.Q315H	ENST00000295131.2	37	c.945	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295010	0.23564	.	.	ENSG00000163012	ENST00000295131	T	0.24723	1.84	5.74	-4.51	0.03483	.	0.619164	0.14633	N	0.307711	T	0.14874	0.0359	L	0.43923	1.385	0.09310	N	1	P	0.42337	0.776	B	0.37780	0.258	T	0.11155	-1.0599	10	0.48119	T	0.1	-5.8848	4.8335	0.13453	0.11:0.1766:0.1085:0.6049	.	315	Q8NEG5	ZSWM2_HUMAN	H	315	ENSP00000295131:Q315H	ENSP00000295131:Q315H	Q	-	3	2	ZSWIM2	187402849	0.000000	0.05858	0.082000	0.20525	0.295000	0.27426	-1.942000	0.01541	-0.441000	0.07201	-0.371000	0.07208	CAA	ZSWIM2	-	NULL	ENSG00000163012		0.368	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1		0.00	83	0	T	NM_182521		187694604	-1			no_errors	ENST00000295131	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.003	G
ZSWIM6	57688	genome.wustl.edu	37	5	60768550	60768550	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:60768550C>T	ENST00000252744.5	+	2	719	c.719C>T	c.(718-720)tCg>tTg	p.S240L		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	240					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)	p.S240W(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						GCAATACAATCGGAGCCAGAA	0.458																																																	1	Substitution - Missense(1)	endometrium(1)											99.0	83.0	88.0					5																	60768550		692	1591	2283	SO:0001583	missense	0			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.719C>T	5.37:g.60768550C>T	ENSP00000252744:p.Ser240Leu			Missense_Mutation	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.S240L	ENST00000252744.5	37	c.719	CCDS47215.1	5	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589782	0.86851	.	.	ENSG00000130449	ENST00000252744	T	0.70869	-0.52	5.61	5.61	0.85477	.	.	.	.	.	T	0.68979	0.3060	L	0.55990	1.75	0.49582	D	0.999808	P	0.50819	0.939	B	0.43508	0.422	T	0.65138	-0.6241	9	0.16420	T	0.52	0.0159	19.9997	0.97405	0.0:1.0:0.0:0.0	.	240	Q9HCJ5	ZSWM6_HUMAN	L	240	ENSP00000252744:S240L	ENSP00000252744:S240L	S	+	2	0	ZSWIM6	60804307	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	TCG	ZSWIM6	-	NULL	ENSG00000130449		0.458	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1		0.00	33	0	C	NM_020928		60768550	+1			no_errors	ENST00000252744	ensembl	human	novel	74_37	missense	7.89	35	3	SNP	1.000	T
ZSWIM6	57688	genome.wustl.edu	37	5	60839555	60839555	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:60839555C>T	ENST00000252744.5	+	14	3059	c.3059C>T	c.(3058-3060)gCt>gTt	p.A1020V		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	1020					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						GTTCTCGACGCTGCTACGACT	0.537																																																	0													46.0	43.0	44.0					5																	60839555		692	1591	2283	SO:0001583	missense	0			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.3059C>T	5.37:g.60839555C>T	ENSP00000252744:p.Ala1020Val			Missense_Mutation	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.A1020V	ENST00000252744.5	37	c.3059	CCDS47215.1	5	.	.	.	.	.	.	.	.	.	.	c	20.8	4.051097	0.75960	.	.	ENSG00000130449	ENST00000252744	T	0.55052	0.54	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	M	0.67953	2.075	0.52099	D	0.999941	D	0.89917	1.0	D	0.91635	0.999	T	0.71771	-0.4492	10	0.49607	T	0.09	-8.7648	18.885	0.92372	0.0:1.0:0.0:0.0	.	1020	Q9HCJ5	ZSWM6_HUMAN	V	1020	ENSP00000252744:A1020V	ENSP00000252744:A1020V	A	+	2	0	ZSWIM6	60875312	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.648000	0.83479	2.696000	0.92011	0.556000	0.70494	GCT	ZSWIM6	-	NULL	ENSG00000130449		0.537	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1	-	0.00	34	0	C	NM_020928		60839555	+1	tier1	-	no_errors	ENST00000252744	ensembl	human	novel	74_37	missense	33.33	22	11	SNP	1.000	T
ZSWIM6	57688	genome.wustl.edu	37	5	60839555	60839555	+	Missense_Mutation	SNP	C	C	T			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:60839555C>T	ENST00000252744.5	+	14	3059	c.3059C>T	c.(3058-3060)gCt>gTt	p.A1020V		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	1020					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						GTTCTCGACGCTGCTACGACT	0.537																																																	0													46.0	43.0	44.0					5																	60839555		692	1591	2283	SO:0001583	missense	0			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.3059C>T	5.37:g.60839555C>T	ENSP00000252744:p.Ala1020Val			Missense_Mutation	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.A1020V	ENST00000252744.5	37	c.3059	CCDS47215.1	5	.	.	.	.	.	.	.	.	.	.	c	20.8	4.051097	0.75960	.	.	ENSG00000130449	ENST00000252744	T	0.55052	0.54	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	M	0.67953	2.075	0.52099	D	0.999941	D	0.89917	1.0	D	0.91635	0.999	T	0.71771	-0.4492	10	0.49607	T	0.09	-8.7648	18.885	0.92372	0.0:1.0:0.0:0.0	.	1020	Q9HCJ5	ZSWM6_HUMAN	V	1020	ENSP00000252744:A1020V	ENSP00000252744:A1020V	A	+	2	0	ZSWIM6	60875312	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.648000	0.83479	2.696000	0.92011	0.556000	0.70494	GCT	ZSWIM6	-	NULL	ENSG00000130449		0.537	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1	-	0.00	44	0	C	NM_020928		60839555	+1	tier1	-	no_errors	ENST00000252744	ensembl	human	novel	74_37	missense	33.33	22	11	SNP	1.000	T
